Happy New Year for everyone

Happy New Year for everyone!!!!!!!!!!

Thank you for your support!

I believe in miracle...2016 approved the drug Spinraza for the treatment of spinal muscular atrophy (SMA).

Approved the drug Spinraza for the treatment of SMA

The FDA on December 23, 2016 approved the drug Spinraza for the treatment of spinal muscular atrophy (SMA). Dr. Tom Crawford, Director of the MDA Care Center at Johns Hopkins Hospital in Baltimore, Maryland, talks about the significance of the approval. For more information, go to mda.org.

Video from: https://www.youtube.com/watch?v=B0ayLo27Ros

Welcome to my charitably Art auction!

Hi, my friends! I created charitably Art auction of my art works "My flowers".

Welcome to my page: http://profile.empowr.com/Profile/NewCustomProfile.aspx?u=033a0ad310ae402585f5cbabc6ec74f6

We'll fight SMA

I am dream about  it in new year...

Meryl Christmas!

In the World has approved a new Drug Treatment for SMA!!!!!!!

Today, unusual day! In the World has approved a new Drug Treatment for SMA!!!!!!!

Today, the FDA announced that it has approved Spinraza (nusinersen) to treat spinal muscular atrophy, making it the first-ever FDA-approved therapy for SMA.

We are thrilled to see our community’s efforts culminate in the approval of Spinraza: not only the first-ever approved treatment for this disease, but also one that addresses the underlying genetic cause of SMA. This has been a story of all groups—families, researchers, companies and the FDA—working together as one community to reach this amazing milestone.

We are especially pleased that the sophisticated and rigorous clinical development plan that Biogen and Ionis chose to implement has resulted in a broad label that will now give so many patients access.

The approval from the FDA for all SMA—pediatric and adult—is the broadest possible label, with no restrictions—and this matches our core value at Cure SMA of being one united community for all ages and all types of SMA.

“Biogen is committed to continuing to work together with the SMA community as we embark on a future where there is now a treatment available for this devastating disease,” said George A. Scangos, PhD, chief executive officer at Biogen. “The teams at Biogen and Ionis are grateful for the support we have received and we join Cure SMA and SMA families in celebrating this critical milestone for the community.”

“There has been a long-standing need for a treatment for spinal muscular atrophy, the most common genetic cause of death in infants, and a disease that can affect people at any stage of life,” said Billy Dunn, MD, director of the Division of Neurology Products in the FDA’s Center for Drug Evaluation and Research. “As shown by our suggestion to the sponsor to analyze the results of the study earlier than planned, the FDA is committed to assisting with the development and approval of safe and effective drugs for rare diseases and we worked hard to review this application quickly; we could not be more pleased to have the first approved treatment for this debilitating disease.”

An Historic Moment for the SMA Community

This is an historic moment that our community has been working toward for decades. We extend our deepest gratitude to all our chapters, families, supporters, donors, and partners who have contributed to this milestone.
“This is a landmark day for the SMA community with the first approved drug for the disease. Cure SMA and our entire community have worked together tirelessly for more than thirty years to make this happen. It is important for all of us to stop and celebrate this shared accomplishment that will change and improve the lives of SMA patients,” said Jill Jarecki, PhD, Cure SMA’s Chief Scientific Officer.
Thank You

From 2003 to 2006, Cure SMA provided the very first research funding needed to begin investigation into this therapeutic approach. We thank Drs. Ravindra Singh and Elliot Androphy of the University of Massachusetts Medical School for their work funded by Cure SMA in originally identifying the ISSN1 gene sequence, which is the sequence targeted by Spinraza. We acknowledge Dr. Adrian Krainer and his colleagues at Cold Spring Harbor Laboratory for generating critical intellectual property. All this work was then licensed to Ionis Pharmaceuticals to create the antisense therapy Spinraza. We especially appreciate the team at Ionis for their central role in the rapid advancement of Spinraza.

We are particularly thankful to our partners at Biogen. Together with Ionis, Biogen worked to develop and implement a comprehensive clinical testing program that would provide both the quickest route to approval and the high quality data necessary to support a broad label and access. We thank the families who made many sacrifices to participate in these clinical trials, including the placebo-control groups which were so critical to prove the effectiveness of Spinraza for the whole community.
Finally, we want to recognize the FDA for their partnership with us throughout this process. The FDA understood the critical urgency within our community and acted incredibly quickly to review the robust data submitted in the New Drug Application.
“This first approved treatment provides the greatest hope, and reaffirms the commitment made by the entire community, to create a world without spinal muscular atrophy and rid the world of the suffering wrought by this terrible disease,” said Richard Rubenstein, Chair of the Cure SMA Board of Directors. “It is gratifying to see all of the efforts made by so many people for so many years realized with this breakthrough.”
More About Spinraza

SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein—called survival motor neuron protein or SMN protein—that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness.
All individuals affected by SMA have at least one copy of survival motor neuron gene 2 (SMN2), often referred to as the SMA "backup gene." Due to a splicing error, most of the SMN protein made by SMN2 is missing an important piece, called exon 7. Antisense drugs are small snippets of synthetic genetic material that bind to ribonucleic acid (RNA), so they can be used to fix splicing errors in genes such as SMN2. Spinraza is antisense oligonucleotide that targets SMN2, causing it to make more complete SMN protein.
Spinraza was first known as IONIS-SMNRx, then nusinersen.

Timeline of Events

2003 - 2006: Cure SMA makes $500,000 in seed grants to fund the therapeutic approach that led to Spinraza.

July 2010: Ionis (then known as Isis Pharmaceuticals) licenses the intellectual property to begin development of Spinraza.

December 2011: Ionis initiates a Phase 1 clinical trial of Spinraza.

January 2012: Biogen and Ionis enter into a partnership agreement to continue developing Spinraza.

April 2013: Ionis begins testing Spinraza in Phase 2 clinical trials.

August 2014: Ionis and Biogen launch ENDEAR, a Phase 3 clinical trial testing Spinraza in infants with SMA type I.

November 2014: Ionis and Biogen launch CHERISH, a Phase 3 clinical trial testing Spinraza in children with SMA type II.

March 2015: Biogen and Ionis launch NURTURE, a Phase 2 clinical trial testing Spinraza in infants genetically diagnosed with SMA but not yet showing symptoms.

August 12, 2016: Biogen and Ionis announce their intention to initiate regulatory filings for Spinraza, after the drug meets its primary endpoint in an interim analysis of ENDEAR.

September 26, 2016: Biogen and Ionis announce that they have completed their rolling NDA submission to the FDA and EMA.

October 28, 2016: Biogen and Ionis announce that the FDA has accepted their New Drug Application with priority review.

November 7, 2016: Biogen and Ionis announce that SPINRAZA also met its primary endpoint in an interim analysis of CHERISH.

December 23, 2016. The FDA approves Spinraza for SMA.

Text from; http://www.curesma.org/news/spinraza-approved.html

Christmas charity for Monika

In soon time Christmas holiday...
But I'm sick for five days, it's just a cold but it is very spoils the mood. Today I have much better, so I can write here.

I very need your support especially now. Soon begins January and left a few months before my first treatment in the clinic Nigrisoli in Bologna. This treatment very important for me because it will improve condition of my respiratory system, and then I can get to the surgery for correction scoliosis.

I can't cope without you. Don't forget about me!

Every your donation is one step on the way to my health: https://www.gofundme.com/pleasehelpMONIKA

AveXis to Use Intended Commercial GMP Product in SMA Type 2 Study

Wandering news from AveXis!

News from CHICAGO, Dec. 21, 2016 (GLOBE NEWSWIRE) -- AveXis, Inc. (NASDAQ:AVXS), a clinical-stage gene therapy company developing treatments for patients suffering from rare and life-threatening neurological genetic diseases, today reported that, based on emerging data from its intended commercial Good Manufacturing Practice (GMP) development work and ongoing discussions with the U.S. Food and Drug Administration (FDA), the company has made the strategic decision to use the intended commercial GMP derived product in all future studies of the company’s proprietary gene therapy candidate, AVXS-101, including the planned spinal muscular atrophy (SMA) Type 2 trial.

The company had originally planned to use existing inventory for its initial trial in SMA Type 2, and to then use its intended commercial GMP derived product in later Type 2 trials. By using the intended commercial GMP derived product for the duration of its study of AVXS-101 in Type 2 patients, the need for a comparability analysis later in program development is eliminated, potentially accelerating the timeframe for gathering clinical data that may be used as part of a data set to support a future SMA Type 2 indication.

“We believe this strategic decision has the potential to streamline the development of the clinical data set for AVXS-101 in SMA Type 2,” said Sean Nolan, President and Chief Executive Officer of AveXis. “We are pleased with the advances we have seen from our process development efforts and believe the optimal approach is to use the scalable process in our clinical evaluation of AVXS-101 in SMA Type 2 from the outset.”

The company now expects to initiate the planned study of AVXS-101 in SMA Type 2 patients in Q2 2017, assuming a positive outcome from its Type B manufacturing meeting with the FDA, currently anticipated to occur in Q1 2017.

This approach is intended to potentially expedite the SMA Type 2 program and does not impact the development program for AVXS-101 in SMA Type 1. AveXis expects to initiate a U.S. pivotal trial of AVXS-101 in patients with SMA Type 1 in the first half of 2017, and plans to use the same intended commercial GMP derived product for that study.

Conference Call Information
AveXis will host a conference call and webcast at 4:30 p.m. EST today, December 21, 2016, to discuss this clinical development update for AVXS-101.

Analysts and investors can participate in the conference call by dialing (844) 889-6863 for domestic callers and (661) 378-9762 for international callers, using the conference ID 43591277. The webcast can be accessed live on the Events and Presentations page in the Investors and Media section of the AveXis website, www.AveXis.com. The webcast will be archived on the company’s website for 30 days, and will be available for telephonic replay for 14 days following the call by dialing (855) 859-2056 (Domestic) or (404) 537-3406 (International), conference ID 43591277.

About SMA
SMA is a severe neuromuscular disease characterized by the loss of motor neurons leading to progressive muscle weakness and paralysis. SMA is caused by a genetic defect in the SMN1 gene that codes SMN, a protein necessary for survival of motor neurons. The incidence of SMA is approximately one in 10,000 live births. SMA is the leading genetic cause of infant mortality.

The most severe form of SMA is Type 1, a lethal genetic disorder characterized by motor neuron loss and associated muscle deterioration, which results in mortality or the need for permanent ventilation support before the age of two for greater than 90 percent of patients. Approximately 30 percent of cases are expected to be SMA Type 2. SMA Type 2 typically presents between six and 18 months of age. Affected patients will never walk without support, and SMA Type 2 results in mortality for more than 30 percent of patients by age 25.

About AVXS-101
AVXS-101 is a proprietary gene therapy candidate of a one-time treatment for SMA Type 1 and is designed to address the monogenic root cause of SMA and prevent further muscle degeneration by addressing the defective and/or loss of the primary SMN1 gene. AVXS-101 also targets motor neurons providing rapid onset of effect, and crosses the blood brain barrier allowing an IV dosing route and effective targeting of both central and systemic features.

About AveXis, Inc.
AveXis is a clinical-stage gene therapy company developing treatments for patients suffering from rare and life-threatening neurological genetic diseases. The company’s initial proprietary gene therapy candidate, AVXS-101, is in an ongoing Phase 1 clinical trial for the treatment of SMA Type 1. For additional information, please visit www.avexis.com.

Forward-Looking Statements
This press release contains "forward-looking statements," within the meaning of the Private Securities Litigation Reform Act of 1995, regarding, among other things, AveXis’ research, development and regulatory plans for AVXS-101, including the potential of AVXS-101 to positively impact quality of life and alter the course of disease in children with SMA Type 1, expectations regarding design and timing of the SMA Type 2 trial of AVXS-101 and the overall clinical development of AVXS-101 and AveXis’ manufacturing processes. Such forward-looking statements are based on current expectations and involve inherent risks and uncertainties, including factors that could delay, divert or change any of them, and could cause actual results to differ materially from those projected in its forward-looking statements. Meaningful factors which could cause actual results to differ include, but are not limited to, the scope, progress, expansion, and costs of developing and commercializing AveXis’ product candidates; regulatory developments in the United States and foreign countries, as well as other factors discussed in the "Risk Factors" included as Exhibit 99.1 to the Company’s Current Report on Form 8-K filed with the Securities and Exchange Commission on September 7, 2016 and the "Management's Discussion and Analysis of Financial Condition and Results of Operations" section of AveXis’ Quarterly Report on Form 10-Q for the quarter ended September 30, 2016, filed with the SEC on November 10, 2016. In addition to the risks described above and in the Annual Reports on Form 10-K, Quarterly Reports on Form 10-Q, Current Reports on Form 8-K and other filings with the SEC, other unknown or unpredictable factors also could affect AveXis’ results. There can be no assurance that the actual results or developments anticipated by AveXis will be realized or, even if substantially realized, that they will have the expected consequences to, or effects on, AveXis. Therefore, no assurance can be given that the outcomes stated in such forward-looking statements and estimates will be achieved.

All forward-looking statements contained in this press release are expressly qualified by the cautionary statements contained or referred to herein. AveXis cautions investors not to rely too heavily on the forward-looking statements AveXis makes or that are made on its behalf. These forward-looking statements speak only as of the date of this press release (unless another date is indicated). AveXis undertakes no obligation, and specifically declines any obligation, to publicly update or revise any such forward-looking statements, whether as a result of new information, future events or otherwise, except as required by law.

Text from oficial site AveXis: http://investors.avexis.com/phoenix.zhtml?c=254285&p=irol-newsArticle&ID=2231235

Researchers Identify Gene Causing Atypical SMA With SMN gene in Infants

Japanese researchers have identified a new gene that likely gives rise to spinal muscular atrophy (SMA) with severe brain degeneration.

The team at the University of Miyazaki studied two sisters who developed atypical SMA shortly after birth. Atypical SMA involves muscle atrophy that is accompanied by other neurological symptoms, such as seizures or atrophy of the brain’s cerebellum.

The study, “TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy,” was published in the Journal of Human Genetics.

The girls were born to healthy parents. Doctors noticed problems with the older sister when she was only a month old. She had poor muscle tone, but was alert and reacted to light and visual stimuli. She could swallow, but not lift her arms and legs, and she had weak hands and feet movement. She had some reflexes but not others.

In their first examination of the girl, doctors noted no abnormal values on laboratory tests, and brain scans were normal. The team excluded the possibility of typical infantile SMA since they did not find mutations of the SMN gene.

But the girl’s condition deteriorated rapidly. At three months, she had lost the ability to smile and react to visual cues, and she had muscle twitching in the tongue — a feature indicating lower-motor-neuron injury.

At seven months, brain scans showed tissue loss in the larger part of her brain, but not in the cerebellum or brain stem. She developed seizures, and had difficulty swallowing and breathing. At one year she had lost all means of communication, relied on mechanical ventilation for breathing, and was tube fed. The girl died of aspiration pneumonia when she was 6.

Her younger sister had a similar course of illness, needing a tracheostomy with mechanical ventilation at seven months. Now 7, the girl is still alive.

Since tests for mitochondrial disease and other suspected conditions were negative, researchers sequenced the parents’ genomes in their search for explanations.

They noted that the girls shared two unusual mutations. Both gene variants were homozygous, meaning they were found in both gene copies. A computer analysis suggested that one was likely harmless. Researchers believe the other, in the TBCD (tubulin-folding cofactor D) gene, is connected to the damage.

Each parent carried the mutation in one of their gene copies. This gene codes for a factor that is crucial for normal muscle function, but also important to nerve cells.

Other reports of patients with symptoms similar to the girls’ have been published recently, the Japanese team said. Although the patients also had TBCD mutations, none had conditions as severe as the girls’. Based on this, the researchers concluded that homozygous mutations in the TBCD gene are likely responsible for a new and severe neurodegenerative disorder.

From:http://smanewstoday.com/researchers-identify-gene-causing-atypical-sma-with-brain-degeneration-in-infants

Your donation for Monika's treatments!

Dear, friends!

Soon begins the Christmas holidays. And I want to remind everyone that I love you everyone very much, and thank you for your help and support! In December, I received five donations from around the world and I hope that more donations will come this month. Thank you very much to all of you!

But these donations is not enough for my treatment in Bologna and subsequent surgery scoliosis. I have constant back pain every day and I really need your help. So I beg you not to forget about me, do repost my post, tell your friends about me. Maybe your friends will want to do charity for me.

You can will sending donation to my charity page: https://www.gofundme.com/pleasehelpMONIKA

Or on my charity account PayPal: Lemeshonok@gmail.com

More information about me: https://www.facebook.com/groups/1183688658388473/

Help me! My Friend!

Dear, friends!

I very need your help. Charitable donations are periodically transfer to my page and my Paypal account, but so far these funds is not enough for my treatment in Bologna.

I ask all my friends to do repost this post and to ask their friends and also make a repost. This will help me to find donators in soon time.

Your repost very important to me.

My charity page: https://www.gofundme.com/pleasehelpMONIKA

charity Christmas week

Now I will start charity Christmas week and look forward to your help. Urgent charity fund for respiratory treatment in Bologna and further orthopedic surgery.

You already know that in the short time I have to go for treatment at the clinic Nigrisoli in Bologna to improve my breathing condition of spinal muscular atrophy, and then make the scoliosis surgery in the future.

Only you can help me in this, because I do not have the funds for it. And I hope only on you.

I have charity page on facebook and Gofundme: https://www.gofundme.com/pleasehelpMONIKA

https://www.facebook.com/groups/1183688658388473/

I need your help!

My friend Marco Akamawa helped me to Start a Fundraiser charitable collection page on Gofundme for my treatment in Bologna and my scoliosis surgery.

I ask you to do repost this link on your wall, and maybe you can help me find donators in soon time.

Many thanks all! I love you everyone and hope on your support!

Please help! https://www.gofundme.com/pleasehelpMONIKA

Today GivingTuesday! I ask your help

Today GivingTuesday! I ask your help. Read my story, please.

My name is Monika Lemeshonok, I am artist and painter from Belarus. From born I have rare disease of the spinal cord - Spinal Muscular Atrophy Type 2. From this disease, I can’t walk and move, I'm in a wheelchair. This disease affects neurons in the upper part of the spinal cord and person gradually loses the ability to move. And with age problem starts with the respiratory system and the spine.
But I love life and around the world. I express my love for life through painting artwork, I have art exhibitions throughout Europe and many art lovers appreciate my works.
But now I very need your help! Now I have problems with health from progression of my disease. I have very strong scoliosis and from it I have pain in my spine every day, from scoliosis I can not to sit a long time. My lungs are highly compressed and hard to breathe. I need surgery to correct scoliosis, but before my surgery I need my medical treatment and improvement of the respiratory system in Italian clinic Nigrisoli (Bologna). I also need noninvasive ventilator for my lungs, because my lungs are now weak and this treatment will improve my condition. This treatment I needed as soon as possible, because it affects my life in the future. I'm asking for your help! This treatment costs 3000 €.

I need 40,000€ total for my treatment and surgery. I ask everyone to help me with my problem. I hope very much for your help. This treatment will improve my life.
My charity account:
PayPal: Lemeshonok@gmail.com
VISA: 4246 4100 5470 2615

https://www.facebook.com/groups/1183688658388473/

SMA Cure for Monika

Hi, everyone!

Today my blog changed name. New name of my blog "SMA Cure for Monika".

"SMA Cure for Monika" it is social project about my life and will be how charity platform for donation of my treatment.

My medical consultation in clinic Nigrisoli in Bologna

Hi, everyone! Long time I don't wrote here, because I was very busy. I have very much news. In October I was in Bologna (Italy), I had orthopedic consultation in clinic Rizzoli, for my future surgery scoliosis. But unfortunately I got refused from doctors because my lungs weakness and for me needed in first time treatment of my respiratory system.

On 28 October I was in clinic Nigrisoli. This is wandering clinic, in this clinic research problem of Spinal Muscular Atrophy. I got medical consultation from Doctor M.Villanova, he is told about problem with my respiratory system. He is did invitation me arrived to this clinic again for my medical examination and involved my respiratory system with help Noninvasive ventilation. And after this procedures perhaps I be able to will giving application to another orthopedic clinic for my surgery scoliosis.

Medical Management

Respiratory muscle weakness

In several forms of SMA, respiratory muscle weakness is a significant problem. It’s the most common cause of death in types 1 and type 2 chromosome 5 (SMN-related) SMA.

When the respiratory muscles weaken, air doesn’t move into and out of the lungs very well, with subsequent adverse effects on general health. Signs of weakening respiratory muscles are headaches, difficulty sleeping at night, excess sleepiness during the day, poor concentration, chest infections and, eventually, heart damage and respiratory failure.

Often, in infantile-onset SMA, the muscles between the baby's ribs are very weak, while the diaphragm muscle stays fairly strong. This leads to children who appear to be breathing by moving their bellies rather than their chests and to a pear-shaped body in these infants.

In recent years, the availability of portable, effective ventilation devices has created more options for newborns with SMA, and some have surprised their families and physicians by living many years.

Assisted ventilation also can help children and adults with different forms of SMA. Many physicians advise starting out with noninvasive ventilation, which generally means that air (usually room air, not enriched with oxygen) is delivered under pressure through a mask or mouthpiece.

This kind of system comes in many forms and can be used as many hours of the day and/or night as necessary. It can easily be removed for eating, drinking and talking.

When noninvasive ventilation isn’t sufficient, ventilation assistance can delivered through a tracheostomy — a surgical hole in the trachea, or windpipe. Air under pressure is then delivered through a tube in the tracheostomy site. After a period of adjustment, it’s usually possible for people to eat, drink and talk with a tracheostomy tube.

Other necessary aspects of respiratory care in SMA include clearance of respiratory secretions, sometimes also achieved with a mechanical device, and prevention of infection as far as possible.

An insufflator-exsufflator is one type of device that can assist with clearing respiratory secretions from the airway. The device applies positive pressure to the airway and then rapidly reverses to negative pressure, mimicking a natural cough. The CoughAssist, made by Philips Respironics, is an example of this type of device.

Another type of airway clearance aid is a high-frequency chest wall oscillation device. This device is a vest that rapidly inflates and deflates, vibrating the chest and creating "mini-coughs" that dislodge mucus from small airways, moving it toward larger airways from which it can be more easily coughed out. The Vest Airway Clearance System, made by Hill-Rom, is an example.

To prevent respiratory infections, almost everyone with SMA should get a flu shot every year. Other precautions include staying away from crowds and getting adequate rest and nutrition.

The MDA clinic team can advise you about respiratory care, flu shots and related matters.


Swallowing muscle weakness

Swallowing problems occur when the muscles of the mouth and throat are weak.

Babies with infantile-onset SMA usually have trouble swallowing and sucking. Sucking weakness can lead to dehydration and poor nutrition, while swallowing weakness can lead to obstruction of the airway and respiratory infections from inhaled food or liquids (aspiration).

Babies with severe swallowing and sucking weakness can be fed by alternative methods, such as a feeding tube, often called a gastrostomy tube or g-tube. A feeding tube is a small, flexible tube, about the diameter of a pencil, that allows liquid nutrition (homemade or commercially prepared) to enter the stomach directly, bypassing the mouth, throat and esophagus. Some feeding tube systems are constructed so that the tube can be detached from a "button" on the abdomen when it’s not in use.

Some g-tube users also can eat and drink by mouth, in addition to using the tube. If the main problem is weakness of the chewing muscles, making eating laborious and time-consuming, then it’s fine to eat by mouth for pleasure and extra nutrition, and use the g-tube for basic calories. By contrast, if the main reason for the tube is aspiration of food and liquid, then it’s probably not safe to eat and drink by mouth.

Speech-language pathologists (SLPs) are educated in treating swallowing problems as well as those associated with speech.

Your MDA clinic team can advise you about swallowing muscle weakness, including special ways of preparing food and the use of gastrostomy tubes.


Back muscle weakness with progressive spinal curvature

Weakness of the muscles of the back that normally support the flexible, growing spine is a major problem in childhood-onset SMA. If it’s not corrected, the child may develop scoliosis — a side-to-side curvature of the spine — or kyphosis, a forward curvature of the spine, or both. Some may even end up with "pretzel" types of curvatures that make it impossible to sit or lie down with comfort.

Some physicians believe that severe spinal curvatures may compromise respiratory function in some cases, if the curved spine compresses a lung.

A back brace or corset that supports the child in a certain position is often prescribed to try to direct the spine as it’s growing. Braces don’t solve the problem, but they may slow the progression of a curve.

The permanent solution to spinal curvature is almost always spine-straightening surgery, which can be done if the child’s respiratory status is good enough to withstand the surgery.

The timing of back surgery is tricky. Doctors generally like to wait until maximum spinal growth has been achieved because that allows a simpler surgical technique to be used. On the other hand, if respiratory status is deteriorating, surgery often can’t wait until growth is complete. Here again, the MDA clinic can help you decide.


Anesthesia concerns

A child or adult with SMA who must undergo surgery (for example, to correct scoliosis) needs to take special precautions. The surgical team, particularly the anesthesiologist, must thoroughly understand SMA.

Sometimes, especially in the early stages of SMA, the muscle cells that aren’t receiving nerve signals develop certain abnormalities as they try to "reach out" to nerves. These abnormalities can lead to dangerous reactions to muscle-relaxing drugs often used during surgery. Doctors can get around this problem, if they’re aware of it, by using different drugs.


Can diet help?

Many people wonder if a special diet will affect the course of SMA. While it’s certainly true that children and adults with SMA need good nutrition, so far, there’s little evidence to suggest that any particular type of diet is useful against SMA — and in fact some diets may be harmful.

For example, special formulas made up of broken-down protein components called amino acids — so-called "elemental diets" — actually may cause problems for children with SMA who have little muscle tissue. Some experts say blood levels of these amino acids can become too high if there isn’t enough muscle tissue to properly use them.

Children and adults with SMA run the risk of becoming overweight, probably because they can’t exercise effectively and are taking in too many calories for their level of activity. With the guidance of a physician or nutritionist, it should be possible to keep weight under control, which is important for health, appearance and the backs of caregivers who help with lifting and transferring.

Some children may do better with small, frequent feedings than with three large meals a day. In addition, some physicians recommend over-the-counter supplements, including creatine and/or coenzyme Q10, to meet nutritional needs.

Your MDA clinic physician and other staff members at the clinic can help you with nutritional issues for yourself or your child.

All this information has been took from site of MDA clinic: https://www.mda.org/disease/spinal-muscular-atrophy/medical-management

FDA give feedback on SMA gene therapy trial

US gene therapy company, Avexis, recently announced that it has met with FDA officials and received constructive feedback about its AVXS-101 development programme for SMA type 1. The company plans to initiate a single-arm phase 1 study in the first half of 2017. There will not be a placebo group in this study so the resulting data will be compared against natural history data.

The FDA requested to be briefed on the results once the study is completed: “We strongly recommend that at the completion of the study, you request an end-of-Phase 1 meeting to evaluate the adequacy of data to support future product development, including a discussion of whether the data from the Phase 1 study might provide the substantial evidence necessary to support a marketing application.”

For more information, read Avexis http://investors.avexis.com/phoenix.zhtml?c=254285&p=irol-newsArticle&ID=2218102

http://www.musculardystrophyuk.org/news/breaking-research-news/

Return to home!

Return to home!

I am very tired from my trip, but I am happy that I see wandering beautiful Italy.

My remember about Italy go on...

My orthopedic consultation in Bologna

In October 26, I was in the orthopedic consultation with Dr. Greggi in the Istituto Ortopedico Rizzoli. Unfortunately I was given refusal to hold a scoliosis surgery, because I have problems with my breathing. But on October 28, I go to to the best doctor in the clinic neurologist M.Villanova in clinic Nigrisoli. He is checked my breath and said that it is possible to correct lung problems. He gave me hope that my condition will correct and possibly after that I will think about my surgery. In this clinic I saw department for people with SMA, I liked the cozy environment and good doctors.

The next day, October 29 Doctor Villanova spoke at an international European conference on spinal muscular atrophy in Bologna, where he presented my story about me and my photos. Unfortunately that day I leaved from Italy and I was not able to attend the conference.

I hope very soon to get back to this amazing clinic for examination.

Tomorrow I will arrive to Italy

Tomorrow morning I leave for Minsk to arrive on Tuesday in Milan. By the evening of October 25th I will arrive already in Bologna. On October 26th I will have an important day, I have medical consultation with Doctor Tiziana Greggi in the orthopedic clinic Institute Orthopedico Rizzoli. From this consultation decision depends of doctors about my future surgery scoliosis.

I have a lot of hope on this trip and expect that everything will turn out.

My future trip

Hi everyone!

After four days, I'm going on a trip is important for me. I'm preparing for the medical consultation in Institute Orthopedic Rizzoli in Bologna. I am very worried because from this visit will make a decision about my future surgery scoliosis.

Wish me good luck, that I really need right now.

New logo for "Believe in miracle by Monika Lemeshonok"

My blog "Believe in miracle by Monika Lemeshonok" has been new logotype My fight with SMA and in soon time it is will in all my SMA page and my SMA community. Follow this in soon time.

My first video "My life with SMA: I am artist"

Yesterday I have created my video channel "I believe in miracle by Monika Lemeshonok". This channel about my living with SMA. I invite all to following me.

This is my first video. My video about my life with SMA and my fight against this serious disease. In spite of my physical condition, I very cheerful person. I love to dream and set goals and targets for implementation. I have achieved a great deal in my life, because my disease did not break me and made me stronger than others.

Now I am famous artist in Europe. My artwork appreciate people around the world. And I'm so happy.

https://www.youtube.com/watch?v=xT5o_IFuKAE

Biogen Completes Rolling Submission of New Drug Application to FDA

I AM HAPPY TODAY FROM THIS NEWS!

Biogen and Ionis today announced that Biogen has completed the rolling submission of a New Drug Application (NDA) to the U.S. Food and Drug Administration (FDA) for the approval of nusinersen, an investigational treatment for spinal muscular atrophy (SMA). Biogen has also applied for Priority Review which, if granted, would shorten the review period of nusinersen following the Agency’s acceptance of the NDA.

“Since announcing the positive results of the ENDEAR interim analysis in infantile-onset SMA last month, we have heard from many families expressing their excitement about nusinersen. Their stories continue to inspire us and they are in the forefront of our minds as we work to support the FDA’s review of nusinersen,” noted Alfred Sandrock, M.D., Ph.D., executive vice president and chief medical officer at Biogen. “We appreciate the FDA’s collaboration with us during the application process, and we look forward to continuing this productive dialogue, with the goal of rapidly bringing the first treatment for SMA to as many patients as possible.”

In addition to the NDA filing with FDA, Biogen plans to submit a Marketing Authorization Application (MAA) for nusinersen to the European Medicines Agency (EMA) in the coming weeks. The EMA’s Committee for Medicinal Products for Human Use (CHMP) recently granted Accelerated Assessment to nusinersen, which can reduce the standard review time. Biogen will initiate regulatory filings in other countries in the coming months.

NEXT:http://www.curesma.org/news/biogen-completes-nda-submission.html

The Chan Zuckerberg Initiative: Together we can cure all disease by the end of the century.

Priscilla and I just shared our next major focus for the Chan Zuckerberg Initiative.

Can we help scientists to cure, prevent or manage all diseases within our children's lifetime?

I'm optimistic we can. And I hope you'll join us on this journey to a better future.

Medicine has only been a modern science for about a century, and we've made incredible progress so far. Life expectancy has increased by 1/4 of a year per year since then, and if we only continue this trend, the average will reach 100 around the end of this century.

Today, just four kinds of diseases cause the majority of deaths. We can make progress on all of them with the right technology.

Throughout history, most scientific breakthroughs have been preceded by the invention of new tools to help us see problems in new ways -- like the telescope, the microscope and DNA sequencing.

It's not hard to imagine the modern tools required to accelerate breakthroughs in today's four major disease area. So we're going to focus on bringing scientists and engineers together to build these new tools and technologies.

Today, we announced a few steps in this direction:

Dr. Cori Bargmann, a world-renowned expert in neuroscience and genetics, is joining the Chan Zuckerberg Initiative to lead this initiative. We are thrilled to welcome her.

We are committing to invest $3 billion over the next decade in this initiative to help scientists cure diseases.

Our first project is creating the Biohub. We're investing $600 million in a new research hub to bring scientists and engineers together from Stanford, UCSF, Berkeley, and the world-class engineering team we're building at the Chan Zuckerberg Initiative, in order to build some of the new tools I mentioned above.

The science initiative is a long term effort. We plan to invest billions of dollars over decades. But it will take years for these tools to be developed and longer to put them into full use. This is hard and we need to be patient, but it's important.

This is about the future we want for our daughter and children everywhere. If there's a chance that we can help cure all diseases in our children's lifetimes, then we will do our part. Together, we have a real shot at leaving the world a better place for our children than we found it.

https://actionsprout.io/404D13/thanks

International Day of Peace

Today is the International Day of Peace. World Day of Love.

I love everyone with SMA!

Trial of SMA Therapy RG7800 on Hold, but Roche, Partners Developing Another Compound September 20, 2016 Charles Mooreby Charles Moore In News.

International pharmaceutical company Roche, with its SMA drug development collaboration partners PTC Therapeutics and the SMA Foundation, said a clinical study called Moonfish (NCT02240355) that was investigating a compound and investigational medicine known as RG7800 for people with spinal muscular atrophy (SMA) was placed on clinical hold in April 2015 after an unexpected eye finding in an animal study

Roche, PTC, and the SMA Foundation announced the hold in an update on the clinical development program of SMN2 splicing modifier drug development program for treating SMA.

However, the partners are developing another SMN2 splicing modifier compound called RG7916 that is still in early clinical stages.

Roche said that concentrations of RG7800 being tested in the animal study were higher than those received by any of the Moonfish study’s human participants, and the company says it can can confirm that no safety issues have been identified in any person who received RG7800 through their participation in the Moonfish study.

RG7800 is an investigational oral drug for the treatment of SMA, a genetic disorder caused by the mutation or deletion of the survival of motor neuron gene 1 (SMN1).

curesmalogoRoche and its partners believe RG7800 may have potential to target SMA’s underlying cause by increasing SMN protein levels in the nervous system, muscles, and other tissues through modifying SMN2 gene splicing to stimulate greater production of full-length SMN mRNA.

The SMN2 splicing modifier drug development program was originally launched by PTC Therapeutics in partnership with the SMA Foundation. The program was designed to utilize PTC’s Alternative Splicing technology platform to identify and develop new small-molecule therapeutics in treating and prevention of SMA.

In November 2011, Roche gained an exclusive license to the program, with clinical development of RG7800 being led by Roche with oversight provided by a steering committee with members representing Roche, PTC, and the SMA Foundation.

However, with further clinical development of RG7800 still on hold, in January 2016 the collaborators began a Phase 1 clinical trial in the Netherlands of another SMN2 splicing modifier compound called RG7916.

Based on information from that study, the partners hope to begin clinical trials of RG7916 in people with SMA Type 1 and SMA Type 2/3 by the end of this year. Clinical trial sites, enrollment information, and study timelines will be announced once regulatory feedback has been obtained in countries where the proposed trials will be conducted.

Moonfish study participants will be offered the opportunity to enroll in an open label study with RG7916 provided they meet study criteria. These patients will be contacted by their clinical trial administrator to update them on the new developments.

For more information about updates on the RG7800 and RG7916 studies, visit https://www.clinicaltrialsregister.eu or https://clinicaltrials.gov

or contact the , Information Support Line at 888-662-6728.

The partners say details of the upcoming RG7916 studies will be posted on these websites soon. They note that public participation in clinical trials is critical to the process of advancing scientific understanding of SMA.

According to the research and support organization CureSMA, the disease affects approximately 1 in 10,000 babies, and is the No. 1 genetic cause of death in infants, with about 1 in every 50 Americans a genetic carrier. There is currently no cure for SMA, with treatment consisting of managing the symptoms and preventing complications.

From:http://smanewstoday.com/2016/09/20/sma-drug-rg7800-clinical-trial-on-hold-partners-developing-rg7916

5 Experimental SMA Therapies You Might Find Interesting

1. AVXS 101

Recently, AveXis’ gene therapy candidate AVXS-101, the only gene therapy for spinal muscular atrophy currently in human testing, has been granted FDA orphan drug status for treatment of all types of SMA. It was also granted FDA breakthrough therapy designation and was fast track designation.


2. CK-2127107 (CK-107)

In collaboration with Astellas, Cytokinetics is developing CK-2127107 (CK-107), a new skeletal muscle troponin activator as a potential treatment for people living with SMA. CK-107 has completed five Phase 1 clinical trials in healthy volunteers, and is currently the subject of two Phase 2 clinical trials.


3. Nusinersen

Biogen and Ionis Pharmaceuticals recently announced that nusinersen, their investigational drug for treating SMA, met the primary end point for the interim analysis of the ENDEAR Phase 3 trial evaluating nusinersen in infantile-onset SMA.


4. RG7800

PTC’s more developed SMA drug candidate, RG7800, is the subject of a Phase 2 trial in adult and pediatric SMA patients, but dosing was suspended and the trial was placed on clinical hold to investigate a non-clinical safety finding observed in a longer-term animal study.


5. Gene Therapy

Learn more about how gene therapy can be used to treat SMA:http://smanewstoday.com/tag/gene-therapy/

http://smanewstoday.com/social-clips/2016/09/06/5-sma-experimental-therapies-you-should-know-about/5/

Promising New Drug Could Help Treat Spinal Muscular Atrophy

According to studies, approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken over time. Researchers at the University of Missouri developed a new molecule in April 2014 that was found to be highly effective in animal models exhibiting SMA. Now, testing of that compound is leading to a better prognosis for mice with the disease and the possibility of potential drugs that will improve outcomes for patients with SMA.

"Our team has been fine-tuning a potential therapeutic for SMA and what it does," said Chris Lorson, an investigator in the Bond Life Sciences Center and a professor of veterinary pathobiology in the MU College of Veterinary Medicine. "It's a type of molecule called an antisense oligonucleotide, or ASO, that essentially is synthetic string of nucleic acid that binds a specific sequence in the gene."

In individuals affected by SMA, the survival motor neuron-1 (SMN1) gene is mutated and lacks the ability to process a key protein that helps neurons function. Muscles that control walking or even lifting an arm often are profoundly affected as well as muscles important for breathing. Fortunately, humans have a nearly identical copy gene called SMN2, however, SMN2 normally only makes a small amount of the correct SMN protein. Lorson's compound targets SMN2 and effectively "turns the volume up" for SMN2, allowing it to make more of the correct SMN protein.

"Our current treatment helps the body create a backup mechanism to combat the disease and extends survival in mice with SMA from just 13 days to a little over five months after only one injection at birth," Lorson said. "This treatment helps produce the right form of SMN, the one that was only produced at very low levels before."

Lorson stressed that his lab's achievement does not promise a cure for SMA and that it is unlikely a single compound will address the full gamut of symptoms. However, by combining therapies currently being researched, a better prognosis could be on the horizon, Lorson said.

The early-stage results of this research are promising. If additional studies are successful within the next few years, these compounds may be tested in human clinical trials with the hope of developing new treatments for SMA.

The study, "Optimization of Morpholino Antisense Oligonucleotides Targeting the Intronic Repressor Element1 in Spinal Muscular Atrophy," recently was accepted for publication inMolecular Therapy, a journal of Nature. Previous funding was received from CureSMA. Erkan Osman, a postdoctoral fellow and lead author on this publication working in Lorson's lab is funded by FightSMA and the Gwendolyn Strong Foundation. The content is solely the responsibility of the authors and does not necessarily represent the official views of the funding agencies.

http://www.dddmag.com/news/2016/07/promising-new-drug-could-help-treat-spinal-muscular-atrophy#.V9NWc1zhXmc.facebook

Sign Up and Enjoy Patient Benefits

To join our database and to receive a $5 gift card if you qualify, please complete the form below. Currently we are looking for patients and caregivers with many different rare conditions. Please fill out the sign-up form below and we’ll let you know if you qualify. If you are the caregiver of more than one patient, or are both a patient and caregiver, please fill out a separate entry for each and you will receive multiple gift cards.

Please be aware that each entry is checked individually. Please include your correct personal phone number as we will call you to verify your information. It may take several days before you receive your gift card if you qualify. Read more about how we use your information.

At this time we are accepting patients and caregivers across all diseases. However, that does not guarantee we will have surveys for you. If there are not any companies that have treatments available, or there are no companies developing treatments, then there would be no sponsors for surveys. But we are always looking for sponsors for all disease categories!

Only one caregiver per household, please! That is because our survey sponsors won’t allow more than one response from caregivers in the same household. If you have more than one caregiver, you can decide which of you can do each survey.

Please be aware that the rewards you earn from participating in market research, like all income you receive, is considered taxable by the IRS. We are required to submit form 1099 for each patient or caregiver whom we pay $600 or more in a year.

We are proud to say that we’ve rewarded patients with over one million dollars for participating in surveys in the past three years!

Register here: https://www.rarepatientvoice.com/sign-up/

Help to Artyom!

SMA Awareness Month on the ends. And I want to once again talk about little boy Artyom, he has SMA type 1, and he with his parents lives near me. He always needs a specially adapted for his life. He as all children with SMA waits and hopes that in soon time will created drug from SMA and it will receive all the children and people with SMA. We all believe in it.

Expanded Access Program for Nusinersen in Participants for SMA 1 type

In soon time we wait for a miracle drug for SMA

Biogen is working to open a global expanded access program (EAP) for eligible patients with infantile-onset SMA (consistent with Type 1) in the coming months. The EAP can be initiated at existing nusinersen clinical trial sites in countries where EAPs are permitted according to local laws and regulations, can be operationalized, and where there is a path that can support long-term availability of nusinersen. Once the EAP is operational and required local approvals are in place, individual participating sites may start enrollment after they have transitioned ENDEAR study participants to the open-label extension study.

More information on the EAP can be found on the clinicaltrials.gov website under the NCT identifier NCT02865109 https://clinicaltrials.gov/ct2/show/NCT02865109

Full text: http://www.curesma.org/news/important-milestone-reached.html

Day of memory of people passed away from earthquake in Italy

Today in Italy by passed people mourning memory of the tragedy from earthquake. I have many friends from Italy and they need moral support.

I ask everyone to support this post, and to pray for the dead on that terrible day.

20 Secrets People Affected by Spinal Muscular Atrophy Want Others to Know

Spinal muscular atrophy (SMA) is a disease caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein critical to the function of the nerves that control our muscles. Without it, these nerve cells cannot properly function and eventually die.

There are four types of SMA that range in severity, but all of them cause difficulties with walking, performing the activities of daily life, eating and even breathing. In its most severe form, SMA is the number one genetic cause of death for infants.

There is currently no treatment for SMA, but a number of drugs are being tested in clinical trials, and one of these will soon be presented to the FDA for approval.

This is what they said:

1.“You do not need to be afraid to be around us. We are still the same family we were before the diagnosis, only more fragile. Take precautions; don’t disappear. Ask us questions about our daughter. It does not hurt our feelings. Questions help spread awareness.” — Majerie S.

2.“These children are brilliant and can communicate in fascinating ways. Just because my son can’t move, doesn’t mean he can’t get his point across! He is 2 and tells me what he wants — down to what socks he wants to wear. Learn the way SMA children communicate and you will be blown away by how they can hold a conversation!” — Autumn J.

3. “It’s not the end of the world. I am 28 with SMA type 3 and have been quite successful in life so far as a teacher. Don’t let any disability or label define who you are. There is always another way.” — Megan E.

4. “I would want others to know that caring for someone with SMA is not a burden. It’s not an awful and sad life. We live our life feeling blessed and grateful for each day. My daughter has truly been the biggest blessing in the world.” — Shellie L.

5. “It’s the hardest and most rewarding job at the same time. They are extremely smart and bright. This is my daughter. If anyone can make you smile it’s her.” — Kelsy H.

6. “Living with SMA has taught our little family to learn to love a different kind of ‘normal.’ Yes, our daughters (both with type 2) cannot walk or move around on their own, but they are vibrant and full of life! They teach us every day to enjoy the moment and never limit the possibilities.” — Robin H.

7. “Don’t limit your expectations of what is possible for your child. I used to be surprised when my son or daughter would do something I never expected they’d be able to do. Now I watch and wait to see what they’ll accomplish next, knowing there is no limit to their potential.” — Danielle S.

8. “My wish would be that the new drug that’s supposed to help cure SMA be here sooner then later.” – Melissa D.

9. “Being a caregiver isn’t giving up your time to help a child grow, but taking time to grow alongside the child.” — Chelsea K.

10. “This disease does not define my husband. He is an individual who has spinal muscular atrophy. He is strong, loving, caring, and a wonderful father. SMA is a part of him but it does not define him.” — Adolfo P.

11. “Take time to get to know my son and he’ll steal your heart just like he did mine from that first moment I saw him.” — Chris O.

12. “Caregiver fatigue is real. Self-care isn’t selfish. Keeping active and keeping social is so important in caring for my hubby of 28 years who has SMA type 3.” — Alicia L.

13. ”SMA takes away what dreams I ‘thought’ I had for my son, allowing me to see the dreams that my son has and will achieve.” — Bridget C.

14. “It’s not always visible. Don’t judge. Just because I can’t do something doesn’t mean I don’t want to do it. Don’t think I’m not working as hard as I possibly can to keep the strength that I still have. I won’t give up on myself and no one else should give up on me either!” — Courtney F.

15. “I would want others to know that they do not know the meaning of true happiness until they have met someone with SMA. My son faces many physical limitations, yet he is always happy and smiling, and making others happy as well. It is impossible to be sad around him.” — Renee H.

16. “Don’t worry about breaking our kids. They are pretty tough. Also, parents and caregivers need to take the occasional break!” — Kelsey L.

17. “I have developed an amazing, special bond with my daughter. Even though she is going to be 16 years old, I still can carry her, hold her tight, tickle her and love her.” — Ruthie P.

18. “My beautiful, loving, caring, daughter is 45 years old. She is and will always be the light of my life. She has good days as well as bad, but she just never complains.” — Margaret A.

19. “I am a 19-year-old with SMA. I have moved out of home and am currently attending college at RMIT in Melbourne, Australia. It’s definitely not a death sentence.” — Harrison K.

20. “Even with SMA being a terminal diagnosis, it has taught us more about life then death. It has taught us how to love deeper, forgive quicker and be thankful for each day we are given.” — Brittney M.

https://themighty.com/2016/08/what-to-know-about-spinal-muscular-atrophy-sma/

My fight with SMA

Now comes the month August awareness of SMA. But for me it is not just August, for me it is an possibility to remember how 29 years ago SMA has changed of my life. I would feel sad and worry on this, but my disease has made me strong and purposeful. In my life there are not many things that I dream, but there is much things that I love. I was able to achieve great things in life, I became well-known artist in all Europe, my artwork appreciate and love all over in the world. And I'm happy because every passing day it is my chance to get closer to my dream. Because drug from SMA has already been found, but only necessary to wait. I know someday I'll win over SMA.

August is SMA Awareness Month

August is SMA Awareness Month. Through research supported by Cure SMA, scientists have discovered SMN2, the SMA “backup gene.” Most of the SMN protein produced by SMN2 lacks a key building block that is normally produced by SMN1, but people with more copies of SMN2 sometimes have a less severe form of SMA than those with fewer copies. Researchers are working to develop drugs that may prompt SMN2 to make more protein.

https://www.facebook.com/cureSMA/

Biogen and Ionis Pharmaceuticals Report Nusinersen Meets Primary Endpoint at Interim Analysis of Phase 3 ENDEAR Study in Infantile-Onset Spinal Muscular Atrophy

CAMBRIDGE, Mass. & CARLSBAD, Calif.--(BUSINESS WIRE)--Biogen (NASDAQ:BIIB) and Ionis Pharmaceuticals (NASDAQ:IONS) today announced that nusinersen, their investigational treatment for spinal muscular atrophy (SMA), met the primary endpoint pre-specified for the interim analysis of ENDEAR, the Phase 3 trial evaluating nusinersen in infantile-onset (consistent with Type 1) SMA. The analysis found that infants receiving nusinersen experienced a statistically significant improvement in the achievement of motor milestones compared to those who did not receive treatment. Nusinersen demonstrated an acceptable safety profile in the trial. As a result of these findings, Biogen has exercised its option to develop and commercialize nusinersen globally and paid Ionis a $75 million license fee. Biogen will initiate regulatory filings globally in the coming months.

“We are grateful to the families participating in the clinical trials, who continue to inspire us. We want to thank them, along with the investigators who have worked tirelessly on this program and the broader SMA community, for their partnership. Without their contributions, we would not be here today,” said Alfred Sandrock, M.D., Ph.D., executive vice president and chief medical officer at Biogen. “We share the community’s sense of urgency as we strive to bring the first treatment for SMA, the leading genetic cause of infant mortality, to families facing this devastating disease. We remain committed to understanding the potential of nusinersen in the broader SMA population and will continue to focus on the rapid completion of our ongoing studies.”

Based on the results of the pre-specified interim analysis, the ENDEAR study will be stopped and participants will be able to transition into the SHINE open-label study in which all patients receive nusinersen. Data from the other endpoints of ENDEAR will be analyzed when the full data set is available. Results will be presented at future medical congresses. Additionally, participants enrolled in the sham-controlled arm of EMBRACE, a Phase 2 study which also included infantile-onset patients, will have the opportunity to receive nusinersen.

The other studies in the nusinersen program, including CHERISH (later-onset consistent with Type 2) and NURTURE (pre-symptomatic infants), will continue as planned in order to collect the data to demonstrate the safety and efficacy of nusinersen in these populations.

“We are hopeful that nusinersen, if approved, will make a meaningful difference in the lives of patients and families affected by SMA. We look forward to working with Biogen on completing the clinical program and preparing for what we hope is a positive regulatory review,” said B. Lynne Parshall, chief operating officer at Ionis Pharmaceuticals. “Nusinersen is the first antisense drug from our neurological disease franchise to advance to regulatory review, and it illustrates the potential of our antisense technology to address severe diseases that other therapeutic modalities are unable to address adequately.”

Biogen is working to open a global expanded access program (EAP) for eligible patients with infantile-onset SMA (consistent with Type 1) in the coming months. The EAP can be initiated at existing nusinersen clinical trial sites in countries where EAPs are permitted according to local laws and regulations, can be operationalized, and where there is a path that can support long-term availability of nusinersen. Once the EAP is operational and required local approvals are in place, individual participating sites may start enrollment after they have transitioned ENDEAR study participants to the open-label extension study.

“Today is a hopeful day for the SMA community, which has worked tirelessly to support research and development for this terrible disease. Many of our families have participated in this and other clinical trials in order to advance our understanding of SMA. We are excited about reaching this important milestone, and the opportunity these results create to potentially bring the first treatment option for SMA to patients and families. We will continue to relentlessly support research into SMA until we have therapies for all and, ultimately, a cure,” commented Kenneth Hobby, President, Cure SMA.

Biogen is now responsible for all nusinersen development, regulatory and commercialization activities and costs. Ionis will complete the Phase 3 studies and work with Biogen on regulatory filings. The two companies will also work together to transition the clinical programs that Ionis is conducting to Biogen. Ionis is eligible to receive tiered royalties on any potential sales of nusineren up to a percentage in the mid-teens, in addition to up to $150 million in milestone payments based on regulatory approvals.

Webcast

The companies will host a live webcast to discuss the results of the Phase 3 ENDEAR interim results for nusinersen today, August 1, 2016, from 9:00 to 9:30 a.m. EDT. Participants may access the webcast through the Investors section of www.biogen.com or www.ionispharma.com. Following the live webcast, an archived version of the call will be available at the same URLs for one month.

The Nusinersen Clinical Trial Program

The nusinersen Phase 3 program is comprised of two registrational studies, ENDEAR and CHERISH. ENDEAR is a thirteen-month study investigating nusinersen in 122 patients with infantile-onset SMA; the onset of signs and symptoms of SMA less than or equal to 6 months and age less than or equal to 7 months at screening. Based on insights gained from earlier-stage studies and discussions with regulators, a primary endpoint was added to ENDEAR earlier this year that evaluates the proportion of motor milestone responders from the motor component of the Hammersmith Infant Neurological Examination (HINE).

CHERISH is a fifteen-month study investigating nusinersen in 126 non-ambulatory patients with later-onset SMA; onset of signs and symptoms greater than 6 months and age 2 to 12 years at screening. CHERISH was fully enrolled in May 2016.

Additionally, the SHINE open-label extension study for patients who previously participated in ENDEAR and CHERISH is open and is intended to evaluate the long-term safety and tolerability of nusinersen.

Two additional Phase 2 studies, EMBRACE and NURTURE, were designed to collect additional data on nusinersen. The EMBRACE study is designed to collect additional data on a small subset of patients with infantile or later-onset SMA who do not meet the age and other criteria of ENDEAR or CHERISH. NURTURE is an ongoing study in pre-symptomatic infants who are less than or equal to 6 weeks of age at time of first dose to determine if treatment before symptoms begin would prevent or delay the onset of SMA symptoms. All studies are being conducted on a global scale.

About SMA 1-5

Spinal Muscular Atrophy (SMA) is characterized by loss of motor neurons in the spinal cord and lower brain stem, resulting in severe and progressive muscular atrophy and weakness. Ultimately, individuals with the most severe type of SMA can become paralyzed and have difficulty performing the basic functions of life, like breathing and swallowing.

Due to a loss of, or defect in the SMN1 gene, people with SMA do not produce enough survival motor neuron (SMN) protein, which is critical for the maintenance of motor neurons. The severity of SMA correlates with the amount of SMN protein. People with Type 1 SMA, the most severe life-threatening form, produce very little SMN protein and do not achieve the ability to sit without support or live beyond 2 years without respiratory support. People with Type 2 and Type 3 produce greater amounts of SMN protein and have less severe, but still life-altering forms of SMA.

Currently, there is no approved treatment for SMA.

About Nusinersen

Nusinersen is an investigational, potentially disease-modifying therapy6 for the treatment of SMA. Nusinersen is an antisense oligonucleotide (ASO) that is designed to alter the splicing of SMN2, a gene that is nearly identical to SMN1, in order to increase production of fully functional SMN protein. 7

ASOs are short synthetic strings of nucleotides designed to selectively bind to target RNA and regulate gene expression. Through use of this technology, nusinersen has the potential to increase the amount of functional SMN protein in infants and children with SMA.

Both the U.S. and EU regulatory agencies have granted special status to nusinersen in an effort to expedite the review process, including Orphan Drug Status and Fast Track Designation in the U.S. and Orphan Drug Designation in the EU.

We acknowledge support from the following organizations for nusinersen: Muscular Dystrophy Association, SMA Foundation, Cure SMA and intellectual property licensed from Cold Spring Harbor Laboratory and the University of Massachusetts Medical School.

About Biogen

Through cutting-edge science and medicine, Biogen discovers, develops and delivers worldwide innovative therapies for people living with serious neurological, autoimmune and rare diseases. Founded in 1978, Biogen is one of the world’s oldest independent biotechnology companies and patients worldwide benefit from its leading multiple sclerosis and innovative hemophilia therapies. For more information, please visit www.biogen.com. Follow us on Twitter.

About Ionis Pharmaceuticals Inc.

Ionis is the leading company in RNA-targeted drug discovery and development focused on developing drugs for patients who have the highest unmet medical needs, such as those patients with severe and rare diseases. Using its proprietary antisense technology, Ionis has created a large pipeline of first-in-class or best-in-class drugs, with over a dozen drugs in mid- to late-stage development. Drugs currently in Phase 3 development include volanesorsen, a drug Ionis is developing and plans to commercialize through its wholly owned subsidiary, Akcea Therapeutics, to treat patients with either familial chylomicronemia syndrome or familial partial lipodystrophy; IONIS-TTRRx, a drug Ionis is developing with GSK to treat patients with all forms of TTR amyloidosis; and nusinersen, a drug Ionis is developing with Biogen to treat infants and children with spinal muscular atrophy. Ionis' patents provide strong and extensive protection for its drugs and technology. Additional information about Ionis is available at www.ionispharma.com.

Biogen Safe Harbor

This press release contains forward-looking statements, including statements relating to the safety and efficacy of nusinersen, as well as clinical trial results and plans, potential regulatory filings and expected timelines, including expanded access for nusinersen, including the transition of the ENDEAR and EMBRACE clinical trial study participants to an open label study and the timing thereof, the submission of applications to regulatory authorities and the timing thereof, and the opening of an EAP and the timing thereof. These statements may be identified by words such as "believe," "expect," "may," "plan," "potential," "will" and similar expressions, and are based on our current beliefs and expectations. Drug development and commercialization involve a high degree of risk, and only a small number of research and development programs result in commercialization of a product. Factors which could cause actual results to differ materially from our current expectations include the actual timing and content of submissions to and decisions made by the regulatory authorities regarding marketing authorization applications for nusinersen, the actual timing and final results of the nusinersen clinical trials and the uncertainties involved in operationalizing an EAP. For more detailed information on the risks and uncertainties associated with our drug development and commercialization activities, please review the Risk Factors section of our most recent annual or quarterly report filed with the Securities and Exchange Commission. Any forward-looking statements speak only as of the date of this press release and we assume no obligation to update any forward-looking statement.

Ionis Forward-looking Statement

This press release includes forward-looking statements regarding Ionis' strategic relationship with Biogen and the development, activity, therapeutic potential, safety and commercialization of nusinersen. Any statement describing Ionis’ goals, expectations, financial or other projections, intentions or beliefs is a forward-looking statement and should be considered an at-risk statement. Such statements are subject to certain risks and uncertainties, particularly those inherent in the process of discovering, developing and commercializing drugs that are safe and effective for use as human therapeutics, and in the endeavor of building a business around such drugs. Ionis’ forward-looking statements also involve assumptions that, if they never materialize or prove correct, could cause its results to differ materially from those expressed or implied by such forward-looking statements. Although Ionis’ forward-looking statements reflect the good faith judgment of its management, these statements are based only on facts and factors currently known by Ionis. As a result, you are cautioned not to rely on these forward-looking statements. These and other risks concerning Ionis’ programs are described in additional detail in Ionis’ annual report on Form 10-K for the year ended December 31, 2015, and its most recent quarterly report on Form 10-Q, which are on file with the SEC. Copies of these and other documents are available from the Company.

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Ionis Pharmaceuticals™ is a trademark of Ionis Pharmaceuticals, Inc. Akcea Therapeutics™ is a trademark of Ionis Pharmaceuticals, Inc.

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