Make a miracle!

Dear, my friends! Repost please!

In soon time will be Christmas holidays and this time it's time of miracles. You can make a miracle NOW!
In soon time I will know about my next trip in treatment in Bologna. And for me needed your help.

You can send me your donation on my charity account:
My charity account:
PayPal: Lemeshonok@gmail.com
VISA: 4246 4100 5470 2615

Text from: https://www.facebook.com/groups/smacuremonika/

Gene Therapy Avexis has started 1 Trial in SMA Type 2!

AveXis, Inc., a clinical-stage gene therapy company developing treatments for patients suffering from rare and life-threatening neurological genetic diseases, today announced the U.S. Food and Drug Administration (FDA) has notified the company that, based on review of data submitted, the company may initiate its planned Phase 1 clinical trial of AVXS-101 for patients with spinal muscular atrophy (SMA) Type 2 via the intrathecal (IT) route of administration, using material produced by the company’s Good Manufacturing Practice (GMP) commercial manufacturing process at the AveXis manufacturing facility. The company plans to initiate this trial immediately.

“We are quite pleased to initiate our first trial of AVXS-101 in patients with SMA Type 2,” said Sean Nolan, President and Chief Executive Officer of AveXis. “Our goal has been to expand the study of gene therapy beyond Type 1 infants to address the urgent medical needs of children with SMA Type 2, and we look forward to understanding the potential clinical impact of AVXS-101 in these patients who, left untreated, will never walk on their own and most will never stand without assistance.”
U.S. Phase 1 Trial in SMA Type 2 (STRONG)

The open-label, dose-comparison, multi-center Phase 1 trial – known as STRONG – is designed to evaluate the safety, optimal dosing, and proof of concept for efficacy of AVXS-101 in two distinct age groups of patients with SMA Type 2, utilizing a one-time IT route of administration. The trial will enroll 27 infants and children with a genetic diagnosis consistent with SMA, including the bi-allelic deletion of SMN1 and three copies of SMN2 without the SMN2 genetic modifier, who are able to sit but have no historical or current ability to stand or walk.

Two dosage strengths will be evaluated and patients will be stratified into two age groups: patients less than 24 months, and patients at least 24 months but less than 60 months. There will be at least a four-week interval between the dosing of the first three patients for each dose being studied and, based on the available safety data, a decision will be made whether to proceed.

The trial is projected to be conducted at 11 sites in the United States, including: Ann and Robert H. Lurie Children's Hospital of Chicago, Boston Children's Hospital, Children's Hospital of Philadelphia, David Geffen School of Medicine at UCLA, Johns Hopkins Pediatric Neurology, Nationwide Children's Hospital, Stanford University Medical Center, University of Central Florida College of Medicine, University of Texas Southwestern Medical Center, University of Utah and Washington University School of Medicine.

“This Phase 1 trial in children with SMA Type 2 will allow us to evaluate safety, optimal dosing and proof-of-concept for efficacy of AVXS-101 compared to the well-characterized natural history using the one-time intrathecal route of administration,” said Dr. Sukumar Nagendran, Chief Medical Officer of AveXis. “Because AVXS-101 targets the root cause of SMA, we are optimistic that we will observe a similar preclinical to clinical translation in this Type 2 trial as was seen in the SMA Type 1 study using intravenous administration.” Full text:http://www.curesma.org/news/avxs-101-strong-trial.html

Today Thanksgiving Day!

Today Thanksgiving Day!

Your help very need to one person. You can to help send your charity donation for my treatment in spring.

Your support very need for me.

My charity account:
PayPal: Lemeshonok@gmail.com
VISA: 4246 4100 5470 2615

My charity groupp:https://www.facebook.com/groups/smacuremonika/

Started cherity action "Help for Monika"

Hi, friends!

Today start Christmas Charity action "Help for Monika". Selling greeting cards for Christmas and New Year with my illustration.
If you will buy this greeting card, we helping me. All money gotten from selling of card will using on my treatment in Italy.

You can will help me. Buy greeting: https://www.redbubble.com/people/artmoni/shop/recent+greeting-cards?ref=portfolio_product_refinement&asc=u

"

Story of Gene Tnerapy

For the past few years, I have had a front row seat watching a world-class team at its very best here in Columbus. No, I have not been in Ohio Stadium, but in my office chair at the Research Institute at Nationwide Children’s Hospital.

Last week, the prestigious New England Journal of Medicine published the team’s promising results of a clinical trial in infants with a fatal genetic disorder called spinal muscular atrophy. The research was performed in our Center for Gene Therapy.

SMA, in its most-severe form, is a devastating disease. More than 50 percent of affected babies die by age 2 from severe muscle weakness. They cannot hold their heads up, roll over, sit up or walk.

The clinical trial found a single intravenous dose of a healthy SMA gene extends the lives of infants with SMA beyond what was previously believed possible. Two of 15 treated infants have even learned to walk.

Although not directly involved, I have watched with great interest as this research played out over many years. What began as parallel, unrelated research efforts converged over time into a remarkable discovery engine with a laser-like focus on an SMA treatment.

The story began more than two decades ago with foundational research on SMA at Ohio State University. Separately, in the early 1990s, scientists at Nationwide Children’s were studying unique adeno-associated viral (AAV) vectors — Trojan horses if you will — capable of carrying corrective gene payloads.

Thirteen years ago, a talented Ph.D. neuroscientist, Dr. Brian Kaspar, was recruited from southern California to join the Center for Gene Therapy. Early on, he found that a specific serotype of AAV — AAV9 — given by vein is exuberantly taken into the same spinal cord cells that are defective in SMA.

At the same time, prominent neurologist Dr. Jerry Mendell relocated from the main Ohio State campus to Nationwide Children’s to focus on developing gene therapies for children with neuromuscular disease. He convinced hospital leaders to construct a specialized facility to manufacture AAV for human use. Text full:http://www.dispatch.com/news/20171105/pediatric-research-teamwork-fuels-breakthrough-in-fight-against-fatal-genetic-disorder

News about GENE THERAPY

WASHINGTON — A first attempt at gene therapy for a disease that leaves babies unable to move, swallow and, eventually, breathe has extended the tots’ lives, and some began to roll over, sit and stand on their own, researchers reported Wednesday.
Only 15 babies with spinal muscular atrophy received the experimental gene therapy, but researchers in Ohio credited the preliminary and promising results to replacing the infants’ defective gene early — in the first few months of life, before the neuromuscular disease destroyed too many key nerve cells.
“They all should have died by now,” said Dr. Jerry Mendell of Nationwide Children’s Hospital, who led the work published by The New England Journal of Medicine. Yet, “those babies are still improving.”
Mendell cautioned that much more study is needed to prove the gene therapy works and is safe. Nor is it clear whether the replacement gene’s effects would wane over time.

Spinal muscular atrophy occurs in about 1 in 10,000 births, and those with the most severe form, called SMA Type 1, rarely reach their second birthday. They can be born looking healthy but rapidly decline. One study found just 8 percent of the most severely affected survived to age 20 months without needing permanent mechanical ventilation to breathe.

There is no cure. The first treatment wasn’t approved until last December — a drug named Spinraza that requires spinal injections every few months.
The experimental gene therapy approach aims for a one-time fix.

WHAT GOES WRONG

Spinal muscular atrophy is caused when a mutated gene can’t produce a protein crucial for survival of motor neurons, nerve cells in the spinal cord that control muscles.
Some children carry extra copies of a backup gene that produces small amounts of the vital protein, and thus have much milder forms of the disease.

GENE REPLACEMENT

Scientists loaded a healthy version of the gene into a virus modified so it couldn’t cause illness. Then 15 babies got a one-time intravenous injection. The virus carried the healthy gene into motor neurons, where it got to work producing the protein those nerve cells require to live.

Three babies received a low dose of the gene therapy, as a first-step safety precaution. The remaining 12 got a high dose.

RESULTS

All of the children are alive, Mendell said, about two years and counting after treatment. All beat the odds of needing permanent machine help to breathe by age 20 months.

But only the high-dose recipients saw better motor control, reaching some developmental milestones usually unthinkable for these patients. Eleven could sit unassisted at least briefly; nine could roll over. Eleven are speaking and able to swallow. Two were able to crawl, stand and then walk, Mendell’s team reported.

Full text:https://www.washingtonpost.com/national/health-science/baby-gene-therapy-study-offers-hope-for-fatal-muscle-disease/2017/11/01/cdd22306-bf42-11e7-9294-705f80164f6e_story.html?utm_term=.6bd2619e4116

Today Halloween

Today Halloween.
I congratulate all with Halloween.

Phase 2 clinical trial Roche in Europe

A Phase 2 clinical trial evaluating the efficacy and safety of RG7916 in children and adults with type 2 or 3 spinal muscular atrophy (SMA) has advanced into a second and possibly pivotal phase. The study is part of a development program jointly led by PTC Therapeutics, Roche and the SMA Foundation.

The SUNFISH trial (NCT02908685) consists of two parts: an exploratory dose-finding initial part that ran for 12 weeks and a confirmatory part that will run for 24 months. This second part is randomized, double-blinded and placebo-controlled. Approximately 168 type 2 and 3 SMA patients, ages 2 to 25, are expected to enroll at sites in four European countries. When SUNFISH concludes in about two years, patients may continue in an open-label extension of this study.

An interim analysis from its first part demonstrated an exposure-dependent increase in the survival motor neuron (SMN) protein, which is deficient in these patients. RG7916 continues to be well-tolerated at all doses and no drug-related safety findings led to any patients withdrawing from part one.

RG7916 is an oral survival motor neuron 2 (SMN2) splicing modifier. Because SMA is caused by a defect in the SMN1 gene, the SMN2 gene has been explored as a potential replacement to guarantee the production of the SMN protein.

Messenger RNA (mRNA) is the molecule that guides protein formation. Pre-mRNA is a less developed version of mRNA. In order for pre-mRNA to become mRNA, the genetic material in pre-mRNA must be edited through a process called “splicing,” where some sections are removed.

To say that RG7916 is a splicing modifier means that it directly targets the underlying molecular deficiency of SMA by modulating SMN2 splicing to increase expression of full-length SMN2 mRNA from the SMN2 gene.

“We are excited to move RG7916 into the pivotal part of the SUNFISH trial,” Stuart W. Peltz, PhD, chief executive officer of PTC Therapeutics, said in a press release. “RG7916 resulted in a substantial increase in SMN2 protein production in SMA patients. We believe that a major advantage of RG7916 is that it is an oral drug that distributes throughout the body. This is important because the SMN protein is critical both in the CNS and peripheral tissues.”

RG7916 is also being investigated in babies with type 1 or infant-onset SMA in a Phase 2 trial called FIREFISH (NCT02913482). This study, running at sites in the U.S. and Europe, is currently recruiting infants ages 1 to 7 months old.

PTC Therapeutics and the SMA Foundation initially began working on this potential therapy in 2006, and Roche began to participate in 2011, when it acquired an exclusive worldwide license to this splicing program. The U.S. Food and Drug Administration (FDA) designated RG7916 an orphan drug for the treatment of SMA in January 2017.

Initiation of the second part of SUNFISH triggered a $20 million milestone payment to PTC from Roche.

Text from:

Today Mother Day

Today Mother Day. I congratulation all mother in the world and first time my mother.

I believe...

SMA - it's suffering, it's pain, it's fighting every day

but I believe that I can victory this disease.

AveXis Announces Plan to Initiate Pivotal Trial of AVXS-101 in SMA Type 1

AveXis, Inc., a clinical-stage gene therapy company developing treatments for patients suffering from rare and life-threatening neurological genetic diseases, today announced the U.S. Food and Drug Administration (FDA) has notified the company that based on review of data submitted, including the potency assay, it may initiate its planned pivotal trial of AVXS-101 for patients with spinal muscular atrophy (SMA) Type 1 using the intravenous (IV) formulation produced by the company’s Good Manufacturing Practice (GMP) commercial manufacturing process. The company plans to initiate this trial immediately.
"We are pleased to reach this outcome following a thorough review by the FDA of the voluminous information we supplied to address the commitments made during the Chemistry, Manufacturing, and Controls Type B meeting in May, and are eager to initiate our pivotal trial of AVXS-101 in SMA Type 1 in the U.S. using product from our GMP process," said Sean Nolan, President and Chief Executive Officer of AveXis. "Moving AVXS-101 back into the clinic, as planned, with product from our GMP process is a significant milestone, not only for AveXis but also for the patients we hope to serve."

The AveXis facility is the production site to supply the pivotal and future trials and, should AVXS-101 be approved for marketing, to meet projected commercial demand.

With the pivotal trial now starting, AveXis and the FDA are continuing discussions on key topics, including dosing, for intrathecal administration of AVXS-101 for the planned clinical trial in patients with SMA Type 2. An update on this program will be provided in the fourth quarter of 2017.

U.S. Pivotal Trial in SMA Type 1 (STR1VE)

The open-label, single-arm, single-dose, multi-center trial – known as STR1VE – is designed to evaluate the efficacy and safety of a one-time IV infusion of AVXS-101 of 1.1 x 1014 vg/kg, which is equivalent to the proposed therapeutic dose received by the second dosing cohort in the Phase 1 trial, in patients with SMA Type 1. Based on the data derived from the company’s new analytical methods that were submitted and reviewed by FDA, it has been determined through direct test with the improved PCR method that the dose used in AveXis’ Phase 1 trial of AVXS-101 in SMA Type 1 was 1.1 x 1014 vg/kg. Additionally, extensive testing in the SMN delta 7 mouse potency assay has demonstrated the equivalence of dose response between the products produced by the Phase 1 and Phase 3 manufacturing process.

The trial will enroll a minimum of 15 patients with SMA Type 1 who are less than six months of age at the time of gene therapy, and who have one or two copies of the SMN2 backup gene as determined by genetic testing and bi-allelic SMN1 gene deletion or point mutations. There will be at least a four-week dosing interval between dosing of the first three patients to allow review of the safety analysis from six time points (days one, two, seven, 14, 21 and 30), as well as early signals of efficacy, prior to dosing of the next patient.

The intent-to-treat population is defined as patients who are less than six months of age and symptomatic at the time of gene therapy, with two copies of the SMN2 gene as determined by genetic testing, bi-allelic SMN1 gene deletion and no c.859G>C mutation in SMN2.

The co-primary efficacy outcome measures of the trial will include:

The achievement of the developmental milestone of independent sitting for at least 30 seconds at 18 months of age; and,
Event-free survival at 14 months of age, with an event defined as either death or at least 16 hours per day of required ventilation support for breathing for 14 consecutive days in the absence of acute reversible illness or perioperatively.

Co-secondary outcome measures will include:

The ability to thrive, defined as the ability to: remain independent from feeding support, tolerate thin liquids and maintain weight; and,the ability to remain independent of ventilatory support at 18 months of age.
The trial is projected to be conducted at 16 sites in the United States, including: Ann and Robert H. Lurie Children's Hospital of Chicago, Boston Children's Hospital, Children's Hospital Colorado, Children's Hospital of Philadelphia, Columbia University, David Geffen School of Medicine at UCLA, Duke University, Johns Hopkins Pediatric Neurology, Nationwide Children's Hospital, Oregon Health and Science University, Stanford University Medical Center, University of Central Florida College of Medicine, University of Texas Southwestern Medical Center, University of Utah, University of Wisconsin, and Washington University School of Medicine.

"We are appreciative of the detailed reviews and timely feedback we have received from the FDA," said James L’Italien, PhD, Chief Regulatory and Quality Officer for AveXis. "We look forward to our end-of-Phase 1 meeting, which has been scheduled for late in the fourth quarter, to discuss next steps in the regulatory process for AVXS-101."

Full text:http://www.curesma.org/news/avexis-pivotal-trial.html

Starting charity event "Charitable Thursday"

Dear, friends! I continue charity funds for my treatment in Bologna.
From today, I'm starting a charitable action "CHARITABLE THURSDAY", I add ink to the online store of my vector illustrations and you can buy any from it. This action will be every Thursday.
I ask you to support and help me! All money from the sale of my illustrations will be applied for my next vital trip to the treatment in the clinic of Bologna.

So, the start of the Charity Event!
Buy please one or more illustrations to this link and you will help me collect donations funds for my treatment: https://www.shutterstock.com/g/Iryna+Lemiashonak

Using Skin Cells for create human Motor Neurons

A cocktail of two microRNAs and two transcription factors is enough to transform human skin cells directly into motor neurons, scientists report — an achievement of potentially considerable importance in understanding such motor neuron diseases as spinal muscular atrophy (SMA).

The study, “MicroRNAs Induce a Permissive Chromatin Environment that Enables Neuronal Subtype-Specific Reprogramming of Adult Human Fibroblasts,” appeared in the journal Cell Stem Cell.

Motor neurons are nerve cells of the central nervous system that transmit signals from the spinal cord to muscles to help them contract. Damage to these cells underlies several devastating and paralyzing diseases, from SMA to amyotrophic lateral sclerosis or ALS.

Scientists have struggled to grow human motor neurons in the lab for research purposes, which is one reason this work is so notable. Researchers at the Washington University School of Medicine in St. Louis, Missouri, were able to convert skin cells from healthy adults into motor neurons. Importantly, this process also didn’t require skin cells to change into stem cells before becoming motor nerve cells.

A technique that requires stem cell state often raises ethical issues, as is the case with pluripotent stem cells. These cells are similar to embryonic stem cells due to their ability to become any adult cell within the body. Moreover, cells that don’t need to undergo a stem cell state are the same age as their cells of origin — in this case, skin cells — and consequently, the same age as the patient whose skin was used to create the motor neuron cells.

“Going back through a pluripotent stem cell phase is a bit like demolishing a house and building a new one from the ground up,” Andrew S. Yoo, the study’s lead author and an assistant professor of developmental biology at Washington University, said in a press release. “What we’re doing is more like renovation. We change the interior but leave the original structure, which retains the characteristics of the aging adult neurons that we want to study.”

The science behind converting skin cells into motor neurons is linked to two small RNA molecules, called microRNAs, which are particularly rich in the brain. Previous research by Yoo and colleagues, while at Stanford University, showed that microRNA-9 and microRNA-124 were important in remodeling the genome so as to induce a neuronal state in cells.

In the current study, Yoo’s team further investigated the role of these microRNAs and how they help convert skin cells into motor neurons. It found that both microRNAs assist cells in holding at a stage where they are ready to convert to neurons. But they were inactive and need more help. After extensive research, researchers identified two transcription factors — ISL1 and LHX3 — were the missing link. Once added to the mix, skin cells turned into spinal cord motor neurons in about 30 days.

The four factors — microRNA-9, microRNA-124, ISL1 and LHX3 — help cells shed their skin cell “genetic identity” and embrace instructions that lead them to becoming motor nerve cells, scientists said.

The converted motor neurons showed a similar genetic profile — in terms of gene activation and how they work — to mouse motor neurons. How well their genetic profile compares to human motor neurons is still a question, because these cells are very difficult to obtain from living adults. Future studies with neuron samples from deceased patients will let researchers determine how well their converted motor neurons match natural human motor neurons.


“Our research revealed how small RNA molecules can work with other cell signals called transcription factors to generate specific types of neurons, in this case motor neurons,” Yoo concluded. “In the future, we would like to study skin cells from patients with disorders of motor neurons. Our conversion process should model late-onset aspects of the disease using neurons derived from patients with the condition.”

Text from: https://smanewstoday.com/2017/09/12/sam-research-may-get-boost-from-study-using-skin-cells-to-create-human-motor-neurons/

Clinical trials of drug treating SMA

The current pipeline for clinical trials of drugs treating SMA is in the table below.

Text from: https://www.treatsma.uk/treatments/

Need you help!

It has already come the first days of autumn. Outside the window bad weather and rain all the time. But I do not want to get upset, I watch my health and try not to get sick.

Since the beginning of autumn, I am announcing again a charity fee for my next treatment in Bologna.

Dear, Friends, this is very important to me! By the beginning of spring, I need to find 2000€ for a trip to the treatment.
Help me to repost my information and tell your friends about it.

My charity account:
PayPal: Lemeshonok@gmail.com
VISA: 4246 4100 5470 2615

My dream about cure

In the last days of August I want to tell you about my dream. But this is not just a dream, it is the dream of my life.

From birth I have a serious rare disease. Spinal Muscular Atrophy, since early childhood I could not walk and move but it did not stop me from my dream. I fantasized that one day in world will development magic medicine would be invented and I will be cured. A lot of time has passed since then and a miracle happened - in the beginning of 2000 was created unique drug - Gene Therapy for SMA in clinic in Colambus, Ohio, USA. In 2014 I learned that was started first phase of clinical trial of this drug for children with type 1 SMA, and now very soon will begin 2 phase of this drug for children with SMA type 2.

I do not know what awaits me in the future, but I know what I want and what I awaite. I want TO BE CURE. And this is my dream.

AAN forms Therapy pricing panel to help neurologists treat SMA and others diseases

As potentially lifesaving, but costly, therapies become available for rare genetic diseases — such as Spinraza (nusinersen) for spinal muscular atrophy (SMA) — neurologists are finding themselves in the increasingly uncomfortable position of deciding which patients are most likely to benefit, and how they can help families pay for such treatments.

In response, the Minneapolis-based American Academy of Neurology (AAN) has formed a Neurology Drug Pricing Task Force to make recommendations and provide guidance to AAN members feeling overwhelmed at these tasks.

Its goal, said Dr. Nicholas E. Johnson, a pediatric neurologist and assistant professor at the University of Utah who heads the effort, is to try to define a workable ground between “what the [treatment’s] label says” about who might receive it, and “what the insurance company says” about whom it will cover.

“It’s nearly a full-time effort for a single staff person to work through the insurance approvals,” Johnson told SMA News Today in a phone interview from Salt Lake City, where he also has a practice. “This is a national problem from the physician’s side, because these drugs provide some risk in that they have to be administered through a spinal tap, and because these drugs carry such a high cost.”
Nicholas Johnson
Nicholas Johnson, MD. (Courtesy University of Utah)

The AAN’s 18-member task force includes 16 neurologists with expertise in practice guidelines, medical economics and ethics, along with two advanced practice providers. It expects to offer guidelines in early 2018.

Spinraza received approval from the U.S. Food and Drug Administration (FDA) in December 2016 as the first disease-modifying treatment for all forms of SMA. Manufactured by Biogen, it has shown highly promising results in clinical trials in young children, but carries a high price tag. Treatment costs an average of $750,000 for the first year and $375,000 for every year after that.

“We’ve been trying to get this medicine for a few adults with SMA and have been denied coverage,” Johnson said. “Thankfully, Biogen’s Patient Assistance Program has stepped in to help these patients out. In the long run, the AAN is there to provide advocacy for both neurologists and the patients they care for, and to make sure patients are provided medications that have disease-modifying, life-altering effects in a sustainable fashion.”

Normally, doctors have some leeway in using new medications in various settings and on a variety of patients, Johnson said. But in Spinraza’s case, “even though it was approved for all ages and all types of SMA, there’s very limited data in adults who have SMA, so this is a real challenge for providers,” he added.

The task force hasn’t yet offered any recommendations, and those made will require AAN leadership approval before being publicized. Besides Spinraza, therapies it will look at include Brineura (cerliponase alfa) for Batten disease, estimated to cost $702,000 a year, and Exondys 51 (eteplirsen) for Duchenne muscular dystrophy, which costs an estimated $300,000 annually.

“Neurologists care for a number of patients with rare diseases, and many of them have a lot of the same challenges as SMA,” Johnson said. “Our goal is to evaluate the environment as it stands right now to essentially provide some guidance for neurologists, and who to prescribe medications for. We don’t really have a good sense of how nusinersen works in the adult population. Normally, a neurologist would start by prescribing the medication and see how it works.”

Johnson compared the current situation to 2006, when the FDA approved an enzyme replacement therapy to treat Pompe disease, an extremely rare hereditary metabolic disorder that strikes roughly one in 40,000 U.S. newborns a year.

“Clinical trials were conducted for the most severe form of the condition, and the drug was approved for all ages. Providers had the ability to prescribe for adults, and they saw over time that it had less benefit,” he said. “But that type of post-approval process is now limited. So what the task force seeks to do is provide guidance and recommendations for those providers who are stuck between what the label says and what the insurance company says.”

Johnson said his Salt Lake City clinic — which covers Utah as well as Idaho, Nevada, Wyoming, and western Colorado — has 130 SMA patients, half of whom are adults.

“Even though it’s a rare disease, there are quite a few patients out there with SMA,” he said. “Utah’s state Medicaid budget is around $100 million a year. If you consider the costs of this drug for our 130 SMA patients, it would easily dwarf the rest of the budget. So we regard this as a very urgent issue.”

Text from: https://smanewstoday.com/2017/08/17/sma-therapies-aan-forms-drug-pricing-task-force-to-help-neurologists-sort-out-thorny-insurance-issues/

My summer. My SMA life

On last weekend I was on summer house. Was very hot, but I am not worried, I painted.

My SMA story for August

This is my SMA story for August

My name is Monika Lemeshonok, I was born on January 27. 1986 in Belarus, city Mogilev. I was born completely healthy child and like all the children started walking at the age of 1 year, I could stand near the crib and walk when I was hold the hand, I was a very active child. But a few months, my mother began to notice how my legs began to weaken when I rested in a chair. My family showed me to a neurologist in the Minsk hospital. At the age of 1.5 years I was diagnosed with SMA type 2 (Spinal Muscular Atrophy), which was later confirmed by genetic DNA analysis. It is a terrible disease affects nerve cells in the upper part of the spinal cord that results in atrophy of the leg muscles and back and then to the loss of movement completely, the person ceases to walk and move.
But despite my disease and physical difficulties from him since childhood, my mother told me that you need to believe in miracles, live and enjoy life. And I've always believed that in one day will happen miracle and I will cure and be able to walk.
I have always admired the world and from an early age loved to draw. At first I was drawing pencils and pens cartoons heroes and then I liked to draw and paint, I painted all around. I started with the teachers of painting in art school.

From a childhood, I gave my personal exhibitions of paintings in many cities in my country and abroad, and help me in this, my mother. Many professionals and art lovers appreciate the artwork on my art exhibition; my works are in private collections in Europe, Asia and America. On one of my exhibitions have helped to me contact with famous professor and neurologist from Moscow Leonora Grinio, who was engaged in embryonic transplant of fetal tissue for people with neuromuscular diseases. The first time I got to her for treatment in 1999 at age 13, where I was made embryonic transplantation of fetal tissue using an injection under the skin. Treatment by Professor L.Grinio was a real miracle for me - I realized that I have a great chance on the way to a dream to be healthy.

I was treated by L.Grinio embryonic fetal cells from 1999 until 2003. In 2004, my professor Leonora Grinio introduced me to academician of the Russian Federation Gennady Suhih- Director of Institute Biological Medicine. And from 2004 to 2011 at the Moscow Institute of Biological Medicine I conducted transplantation of embryonic stem cells into muscle. After this treatment I got stronger muscles of the thighs, my weight began to increase, I do not get sick colds and viral diseases now never, I have always strong energy.

Thanks to this treatment in 2009 I graduated from the State University in my city, specialty Fine Arts, received Excellent diploma.
Another significant event in my life was to get acquainted with the great sculptor and artist Zurab Tsereteli - the first time in June 2003. Zurab personally invited me to their workshops on Tverskaya, the second time in 2008, I was invited to a master class in painting at the Zurab Tsereteli in Moscow on Prechistenka Street in his personal gallery.

I continue to enjoy life and now I have always a lot of inspiration and every day I paint artworks with new strength and believe in a good future.

In 2011 year I finished treatment of stem cells in Moscow, because my body has become stronger and my professor L.Grinio finished medical activities due to illness. At the time she told me about gene therapy - treatment which in the future will treat people with SMA and maybe even cure them completely. Then I did not know which country to seek this treatment, I had no contacts of doctors and clinics. But in 2014 year I saw an article on the internet about what to Nationwide Children's Hospital in Columbus, Ohio began the first phase of clinical trials of gene therapy for children with SMA type 1, which has so far been successful. I wrote message on the further conduct of gene therapy (Avexis) to Jill Jarecki - research director at Families of Spinal Muscular Atrophy (FSMA) and she said that within in three years is planning to conduct clinical trials of gene therapy for people with type 2 SMA.
In first half 2017 I wrote to neurologist John Kissel in Wexner Medical Center (Columbus, Ohio) about future planning participating in clinical trial of Gene Therapy (Avexis) and about me. He is promised that he would put my name and my contacts in the database to participate in these clinical trials in the future. It is was very happy news for me. I look forward and I hope that in the near future I will be able to be included on the clinical trials of gene therapy, because I believe in a miracle that the dream of my life has finally come true.

From October 2016 I got of medical examination and treatment every years in Italy clinic Nigrisoli (Bologna) at the Doctor M.Villanova.

My rest

Today month awareness of SMA and I write about me, about my rest now.
Now very hot. But I was on in the summer village, I painted.
http://s.heyo.com/198fe2?media=8c59868c-fd8e-4694-b32e-0305b4bf3cc2

Month awareness of SMA

Dear, friends!
Today began August - month awareness of rare disease: Spinal Muscular Atrophy. I don't forget about it every year in my life...

Do not forget about this world problem!

My SMA live

My live is different thing - today it is happy and tomorrow - sad.

But I try to live the good moments of my life and hope for the best: http://s.heyo.com/198fe2?media=8c59868c-fd8e-4694-b32e-0305b4bf3cc2

Rare Artist

Дорогие, друзья! Я участвую в американском конкурсе искусств Rare Artist (Редкий художник), в котором участвуют все взрослые и дети с редкими и серьезными заболеваниями, представляя свои художественные, дизайнерские и фото работы.
Прошу всех вас, проголосуйте за мою фото-работу, перейдя по этой ссылке и поставив баллы в правом нижнем углу под моей работой! Очень вас прошу об этом! http://s.heyo.com/198fe2?media=8c59868c-fd8e-4694-b32e-0305b4bf3cc2

Если моя работа победит, этих денег хватит мне на недельное проживание в Болонье для моего последующего лечения.

Top 5 Reads for Spinal Muscular Atrophy Patients and Caregivers

It is maybe interesting for all with SMA

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that causes a loss of motor neurones and muscle, often causing premature death in patients. Being diagnosed, or being a parent of a child diagnosed with SMA can be daunting. Here’s a list of helpful and informative books for patients, parents and caregivers alike.

1. “Courage is Compulsory” by Tori Elliott, Sam Mildon and Laura Gould

This book shares the stories of real SMA patients. It’s an inspiring read for young people facing similar challenges and a source of comfort for family members of someone facing a short lifespan.

2. “Spinal Muscular Atrophy – Disease Mechanisms and Therapy” by Sumner, Paushkin & Ko

This comprehensive reference covers recent advances in SMA research as well as an overview of disease mechanisms, pathology, standards of care, and therapeutic development. Written by experts on the disease, this book is a recommended read for both patients and caregivers who want to come to grips with the mechanisms of the disorder.

3. “SMA Type 2 and Me” by SMA Support UK

This book is aimed a children suffering from SMA. Explaining a disease like SMA to a child can be difficult, so this is a helpful source to help explain the situation both to the child and their friends.

4. “SMA Type 3 and Me” by SMA Support UK

Again, a book aimed at children to help explain the nature of the disease, what is happening and what is going to happen. Aimed at a children aged 8 and over, but could also be used to read to younger children.

5. “Curious George Goes to the Hospital” by H. A. Rey and Margret Rey

A fun story to make SMA seem less intimidating for children diagnosed with the disease. A bright, lively, illustrated story about George the monkey and his journey to the hospital.

Text from: https://smanewstoday.com/2017/07/17/top-5-reads-spinal-muscular-atrophy-patients-caregivers/2/

Spinraza Timeline

So has been evolution of new drug for SMA. I hope that this was happy and hope for many people with SMA.

Image from:

I am on walking

Now summer and I am on walking. I try to be happy from good day.

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

But I do not despond!

But I do not despond! Because it's summer now. And I have not pain.

AveXis Announces Alignment with the FDA on Company's GMP Commercial Manufacturing Process for AVXS-101

AveXis today announced alignment with the U.S. Food and Drug Administration (FDA) on the company’s Good Manufacturing Practice (GMP) commercial manufacturing process for AVXS-101 following the receipt of minutes from the Type B Chemistry Manufacturing and Controls (CMC) meeting.

This alignment includes support for the proposed commercial manufacturing process, the proposed analytical methods and corresponding qualification and validation plans – inclusive of key release assays such as potency, purity and identity – and the proposed comparability protocol, which helps assess how similar the product derived from the GMP process is to the original product used in the Phase 1 trial of AVXS-101 in patients with spinal muscular atrophy (SMA) Type 1.

Overall, the company believes there is alignment with the FDA on its panel of analytical methods and the proposed assay qualification/validation plans. Analytical methods are used to assess how reliably and consistently the key product characteristics can be determined in order to ensure patients receive safe and effective product.

In the meeting minutes, the FDA made a request that the company complete implementation of its potency assay qualification plan, presented in the meeting, prior to initiation of upcoming clinical studies.

The company has already initiated the work necessary to address this request and expects to have the data ready to submit to the FDA in the August timeframe. AveXis plans to initiate a pivotal study trial of AVXS-101 in SMA Type 1 in the U.S. and a Phase 1/2a trial of AVXS-101 in SMA Type 2 in the U.S. later in the third quarter of 2017, pending agreement from the FDA that these data are sufficient.

“The goal of the CMC meeting was to align with FDA on our commercial manufacturing process, analytical methods and comparability protocol, all three of which we believe were achieved in this collaborative and constructive discussion,” said Sean Nolan, President and Chief Executive Officer of AveXis. “The team has already made progress toward addressing the FDA’s request regarding potency assay qualification, and we anticipate only a modest impact to timelines. We are pleased with the outcomes of the meeting and the progress we have made at the AveXis facility, and, most importantly, believe we have a scalable GMP commercial process in place to fulfill future patient demand and a path forward to potentially utilize the Phase 1 data in our regulatory pathway.”

Additionally, FDA is aligned with the company’s proposed comparability protocol to assess the similarity of key characteristics of the Nationwide Children’s Hospital (NCH) product, used in the Phase 1 SMA Type 1 study, with the product derived from the new GMP manufacturing process. Data from this comparability work is ongoing and will include the above-mentioned potency qualification data, which will be incorporated into the data package along with the full Phase 1 clinical data, that will be reviewed and discussed at the upcoming end-of-Phase 1 meeting, likely to be requested later in August. This meeting will help further inform the regulatory pathway options for AVXS-101. The company anticipates providing an update on the outcome of that meeting once the official minutes are available, which is anticipated to be in the fourth quarter of 2017.

The company has previously stated that having its own manufacturing facility is a key strategic capability necessary to be successful in gene therapy. The company today reported that the AveXis manufacturing facility is now fully operational for on-going GMP production.

Product for the planned SMA Type 1 pivotal trials and the Type 2 Phase 1/2a trial using intrathecal delivery has been produced at the AveXis-owned facility, and will be used to initiate the trials, pending FDA review of the potency assay qualification described above and FDA agreement that designated batches of the product are appropriate for a Phase 3 clinical study.

The AveXis facility will be the primary production site to meet projected commercial demand, and the company will use contract manufacturing organizations to supplement production.

Full text: http://www.curesma.org/news/avexis-fda-alignment.html

SPINRAZA (Nusinersen) Approved in the European Union as First Treatment for Spinal Muscular Atrophy

It is cool news for all patient with SMA.

CAMBRIDGE, Mass.--(BUSINESS WIRE)--The European Commission (EC) has granted a marketing authorization for SPINRAZA® (nusinersen) for the treatment of 5q spinal muscular atrophy (SMA), Biogen (NASDAQ:BIIB) announced today. 5q SMA is the most common form of the disease and represents approximately 95% of all SMA cases. SPINRAZA is the first approved treatment in the European Union (EU) for SMA, a leading genetic cause of death in infants that is marked by progressive, debilitating muscle weakness. SPINRAZA was reviewed under the European Medicines Agency’s (EMA) accelerated assessment program, intended to expedite access to patients with unmet medical needs.

“Today we join individuals and families affected by SMA across Europe in celebrating the approval of SPINRAZA. Based on the robust efficacy and safety profile demonstrated in the clinical trials, we believe SPINRAZA will have a meaningful impact on infants, children and adults living with this devastating disease,” said Michel Vounatsos, chief executive officer at Biogen. “As part of our mission to improve the lives of those affected by SMA, we remain steadfast in our commitment to work with healthcare professionals, advocacy groups and government agencies to ensure people who could benefit from SPINRAZA receive access to this important treatment as quickly as possible.”

The approval of SPINRAZA is primarily based on results from two pivotal multicenter, controlled studies, including end of study data from ENDEAR (infantile-onset SMA) and an interim analysis of CHERISH (later-onset SMA), both of which demonstrated the clinically meaningful efficacy and favorable benefit-risk profile of SPINRAZA. The approval was also supported by open-label data in pre-symptomatic and symptomatic individuals with, or likely to develop, Types 1, 2 and 3 SMA.

In the ENDEAR end of study analysis, a statistically significant greater percentage of patients achieved the definition of motor milestone responder in the SPINRAZA group (51%) compared to the sham-control group (0%) (p<0.0001). Some infants in the SPINRAZA group achieved motor milestones including full head control, ability to roll, sitting, and standing. Additionally, infants treated with SPINRAZA demonstrated a statistically significant reduction (47%) in the risk of death or permanent ventilation (p=0.0046). In the CHERISH pre-specified interim analysis, there was a statistically significant and clinically meaningful improvement in motor function in children with later-onset SMA (most likely to develop Type 2 or Type 3) treated with SPINRAZA compared to untreated children. Improvements were measured by the Hammersmith Functional Motor Scale Expanded (HFMSE) and demonstrated a treatment difference of 5.9 points in the mean change from baseline to Month 15 in the HFMSE score (p=0.0000002). The HFMSE is a reliable and validated tool specifically designed to assess motor function in children with SMA. The Phase 3 end of study data were consistent with the interim analysis and presented at the American Academy of Neurology annual meeting in Boston, Mass., April 2017. “The overall clinical findings support the efficacy and safety of SPINRAZA in a broad range of individuals with SMA, including significant improvements in motor development and reduction in risk of death in infants,” said Prof. Dr. Jan Kirschner from the Medical Center University of Freiburg, Germany. “These unprecedented improvements bring new hope to a community where there previously were no approved treatments available to address the loss of motor function over time. We are now seeing motor improvements with SPINRAZA that are never seen in the natural course of the disease.” SPINRAZA must be administered via intrathecal injection, which delivers therapies directly to the cerebrospinal fluid (CSF) around the spinal cord,3 where motor neurons degenerate in individuals with SMA due to insufficient levels of survival motor neuron (SMN) protein.4 SPINRAZA demonstrated a favorable benefit-risk profile. Thrombocytopenia, renal toxicity and coagulation abnormalities, including acute severe thrombocytopenia, have been observed after administration of other subcutaneously or intravenously administered antisense oligonucleotides. There is a risk of adverse reactions occurring as part of the lumbar puncture procedure (e.g. headache, backpain, vomiting). The timing of SPINRAZA availability in the EU will vary by country, per local reimbursement and access pathways. Biogen has been working with health systems and government agencies across the EU to help patients secure access to SPINRAZA. In 2016, in response to the urgent need for treatment for the most severely affected individuals living with SMA, Biogen sponsored one of the largest, pre-approval Expanded Access Programs (EAP) in rare disease free of charge. The EAP has led to the initiation and ongoing treatment of more than 350 eligible individuals with infantile-onset SMA (most likely to develop Type 1) in 17 European countries. Full text:http://newsroom.biogen.com/press-release/investor-relations/spinraza-nusinersen-approved-european-union-first-treatment-spinal-

I am in anticipation of a miracle

Today I am in anticipation of a miracle. But until I don't open this secret ... Just pray for me ...

Plans for treatment in Bologna

I did not write here for several days because I had a cold, I had fever and sore throat. But today I feel better and can write the results of my trip to Bologna and talk about plans for the future.

In the clinic I got a full medical examination, it showed that I was in good physical condition. I underwent nocturnal oximetry (measurement of oxygen in the lungs) and the result was very good, and also good spirometry and echocardiography. I got a recommendation on how to use the cough machine correctly and now I'm training the lungs with this device every day.

Now I will talk about future plans for treatment. Dr. Villanova said that I must arrive every year to the clinic Nigrisoli for medical examination, this is necessary to support my health and the state of my respiratory system. But for treatment in Bologna I need money for air tickets for there and back way for three people: for me, my mother and my grandmother, because they help me on the trip. I ask to help me again in this! I need 2000 € for buying air tickets for treatment in Bologna which is planned for spring next year. Please tell your friends about this and make a repost of this message.

https://www.facebook.com/photo.php?fbid=249886932082321&set=gm.1376656052425065&type=3&theater

I am near SMA clinic Nigrisoli

I am near SMA clinic Nigrisoli with my mother and grandmother in Bologna, Italy.

I am visited in SMA clinic Nigrisoli

I am with Doc. Villanova in clinic Nigrisoli.

Yesterday I returned at home from my treatment. I was 10 days on treatment in clinic Nigrisoli in Bologna (Italy). Every day I had a medical examination. On the first day, I had an x-ray of the spine and echocardiography, on the second day I had night ossimetry (measurement of oxygen in the blood), on the third day I had a blood test and respiratory treatment using a cough machine. All the results of my survey are very good! I am very happy.

I am very happy that a wheelchair was made for me !!! This wheelchair is very comfortable for me and helps to pull my spine.
Thank you very much for Dr. Villanova and Signor Luciano Braconi for this help!!! And also I want say Many Thanks to «Fondazione "Aiutiamoli a Vivere", Luca Avogadro, Cristina Coli, Serena Braconi and ALL my italiano friends for help with my treatment and organization trip in Bologna.

Many THANKS ALL!

In soon I will going to treatment

It remains 4 days before my trip to Bologna for treatment. I'm worried because not all things have been collected and there are no tickets for the train from Milan to Bologna. But I hope everything will be fine.

AveXis’ AVXS-101 Shows Promise in Treating Infants with SMA Type 1

The Phase 1 study (NCT02122952) investigated the effects of AVXS-101 treatment by intravenous injection in 15 infants with SMA type 1 who were six months old or younger. Two doses were compared, the lower dose for Cohort 1 with three patients, and the higher dose for Cohort 2 with 12 patients.

The treatment’s short-term safety was evaluated over a two-year period, but a follow-up safety analysis will be carried out when the last patient reaches 2 years of age post-treatment. Patients will then be monitored annually as per standard of care for up to 15 years.

The endpoints measured were the time from birth to an “event” (death or at least 16 hours of daily ventilation support for 14 consecutive days in the absence of acute reversible illness or perioperatively) and the ability to sit independently, confirmed by video. Researchers also assessed patients with a standard motor milestone development survey and the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND).

An interim data analysis, released lasted year, revealed a favorable safety profile with no new treatment-related safety or tolerability concerns identified. Motor skill improvements were also observed, especially in children treated with the higher dose.

As of Jan. 20, 2017, AVXS-101 maintains its safety profile and was well-tolerated by the patients. Indeed, 12 out of 12 patients (100%) who received the highest one-time therapeutic dose of AVXS-101 (Cohort 2) reached 13.6 months of age without events reported. Of note, the expected event-free survival rate for this disease is 25%.

Results also showed that 11 patients (92%) in this cohort achieved head control, nine patients (75%) were able to roll a minimum of 180 degrees from back to both left and right, and 11 patients (92%) could sit without help.

After the treatment, AveXis used three different measures to evaluate unassisted sitting with increasing amounts of time. Results showed that nine of 12 patients (75%) sat unassisted for five seconds, seven (58%) sat for at least 10 seconds, and five patients (42%) sat for 30 seconds or more. Also, two patients could walk independently, besides having achieved other milestones, including standing with support, standing alone, and walking with support.

In addition, as of Jan. 20, 2017, nine of nine patients (three in the low-dose cohort and six in Cohort 2) — reached 20 months without reported events. Here, the expected event-free rate is 8%.

“The completion of our Phase 1 clinical study of AVXS-101, the first ever gene therapy studied for the treatment of SMA type 1, is an exciting and eagerly awaited milestone, and we are quite pleased with these data,” Sean Nolan, AveXis’ president and CEO, said in a news release.

“The past few months have been productive for AveXis, and we look forward to continuing the momentum with several upcoming corporate catalysts … as well as ongoing collaborative discussions with regulatory authorities in the United States and Europe to explore the most expeditious pathways for marketing approval of AVXS-101,” Noland added.

Text from: https://smanewstoday.com/2017/04/06/avexis-avxs-101-shows-promise-treatment-infants-sma-type-1/

I was walking

Was good sprīng evening. I was walking near the park.

For my treatment in Bologna

Dear, friends! With your help I getting 1000€. I am very glad and grateful to you all for this. Thank you everyone! These donations will go to live and travel to Bologna in soon time. But unfortunately this amount is not enough to buy tickets for flights from Minsk to Milan and then for the train from Milan to Bologna. I need to collect another 2,000 € charity donations because my mother and grandmother will travel with me.

I very hope for your help. Time is very short. But I need to find charitable donations because my health is deteriorating and I urgently need to get respiratory treatment in Bologna. Help me please. Your donations are very necessary now!

My charity account:
PayPal: Lemeshonok@gmail.com
VISA: 4246 4100 5470 2615

Laughter Day

Today is Laughter Day! Congratulate everyone!

About me

For a long time I did not write here, for this there is a reason, last week I had malaise and dizziness. Today I feel good. But I need your help. Urgently needed respiratory treatment in clinic Nigrisoli, Bologna. This treatment needs to be obtained before summer, because my condition worsens in my respiratory system. Only you can help me to have time for this treatment. There is very little time for this. Very few charitable funds have been collected, thanks for that, but this is not enough.

I ask everyone to join the charity event and help raise the right amount for treatment. It is necessary to collect another 2600 €.

My charity account:
PayPal: Lemeshonok@gmail.com
VISA: 4246 4100 5470 2615

In soon I will arrive to treatment in Bologna

Dear, friends! I have two news - good and bed. Good news - I received answer from Italy, they say that I must will arrive in clinic in Bologna in first week of May. It's very soon! But I have also bed news - I haven't needed funds for my trip, because I need 3000€ for buy tickets (3 tickets for me, my mother and grandmother) and for visa.

Your donations very need for me.

One year ago I created "SMA Cure for Monika"

One year ago I created my social project "SMA Cure for Monika". This is project was created with purpose told about my life and my life with SMA. For this year hopes many different news and situations. In soon time I arrived in Bologna for respiratory treatment. In soon I will tell about it.

I am awaiting response from doctor

Now I am awaiting response from doctor from Bologna to schedule date of my treatment at the clinic Nigrisoli. Maybe very soon I will know when I will go there again.

I very much ask you do not forget about me. I really need your donations, because so far I do not have means for buy tickets to Bologna.

My charity account:
PayPal: Lemeshonok@gmail.com
VISA: 4246 4100 5470 2615

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

Today International Woman Day!

Today International Woman Day!

My all good wishes for everyone!

Today international rare disease day

Hi, everyone!

Today international rare disease day.

I want say any words about me and my story. From 1.5 year old doctors says about my disease, about that I never will walk. But I not give up, because I always believed in miracle. All my life it's very strong fight, fight with SMA. It's fight go on every days. In my live I have meeting with different unique doctors.

Now I have many purposes, I want will doing surgery scoliosis, its very need for me. And also I dream that one day I go to on clinical trial gene therapy for patients with SMA. For me it is very important. But now I ask you don't remember about rare patient, we need your help.

I very need respiratory treatment in Bologna. I will be happy, if you send me your donation.

My charity account:
PayPal: Lemeshonok@gmail.com
VISA: 4246 4100 5470 2615

I am rare

Now rare week and this is post about it. I have rare disease Spinal Mucsular Atrophy and I would like that you support my сall. From SMA affected every 10000 child in the world.

Remember about people with rare disease, to us needed your help.

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

"SMA Cure for Monika" has account in Instagram

Began rare week and now "SMA Cure for Monika" has account in Instagram.

I invitation everyone followings me: https://www.instagram.com/smacureformonika/

I need your support!

In soon time winter comes to an end, but I have not still charitable donation. Before my trip to Bologna is few months, but I still not have charitable funds for purchase tickets for my flight. I need to collect charitable 3000€ for my trip (buy tickets, visa, insurance, apartment rental).

I ask you to make repost this my message, and tell your friends about it urgently.

Last time I was very hard to sit back pain and scoliosis progresses. From this worsens my condition. 😭 When I'm going at the clinic in Bologna, I will ask to make a brace for my back. But I also do not have money for it. Only you can help me right now.

Charity account for donations:
PayPal: Lemeshonok@gmail.com
VISA: 4246 4100 5470 2615

My charitable group: https://www.facebook.com/groups/1183688658388473/

My invitation to Italiano-Belarusian Forum

Hi, friends!

Today I want to show my preview of the events that happened to me over the past few months after my trip to Bologna. In early December 2016, I was informed of the Italian Foundation "Aiutiamoli a Vivere" that neurologist Dr. M.Villanova from clinic Nigrisoli gave me a cough machine, to train my breathing. Me and my mother were invited to the Italian-Belarusian Forum which was held in Minsk, at the hotel "Planet". I was very pleased and surprised by this event. The evening of December 8 of us came home chairman of the Italian Fund "Aiutiamoli a Vivere" Signor Luciano Braconi and together we left in a car in Minsk, I was with my mother and grandmother.



On the morning of 9 December, we were invited to the grand opening of the Belarusian-Italian Forum. At the end of the forum my mother was invited to the stage and the Director of the Foundation Fabrizio Pacifici gave me a cough machine, he said it was a gift from Dr. Villanova. My mother told to audience about me and my future treatment in Italy. I was very happy this event.

For two months, every day I use breathing apparatus system cough and I feel improvement.

Watch our video about it.

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

Again news from Avexis

CHICAGO, Feb. 06, 2017 (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 announced that the planned pivotal study of AVXS-101 in spinal muscular atrophy (SMA) Type 1 in the European Union (EU) will reflect a single-arm design, using natural history of the disease as a comparator, and will enroll approximately 30 patients. This update is based on the receipt of the Scientific Advice response from the Scientific Advice Working Party within the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA).

In addition to evaluating safety the planned pivotal trial is expected to evaluate achievement of motor milestones, specifically patients’ ability to sit unassisted, as well as an efficacy measure defined by the time from birth to an “event,” defined as death or requiring at least 16 hours per day of ventilation support for breathing for greater than two weeks in the absence of an acute reversible illness, or perioperatively.

“The scientific advice process has been quite productive, with the EMA providing constructive guidance on a pivotal study design most appropriate for EU product registration,” said James L’Italien, Ph.D., Senior Vice President, Chief Regulatory and Quality Officer of AveXis. “We will utilize the enhanced communication pathways afforded to us via the PRIority MEdicines program and work in collaboration with the EMA to generate the high-quality data needed to support the most rapid submission that meets the requirements for marketing authorization in the EU.”

The CHMP additionally recommended AveXis discuss the potential for Conditional Marketing Authorization in a future meeting with EMA.

More specific clinical trial details will be made available at the time the study is initiated, which is expected in the second half of 2017.

The company expects to initiate a separate pivotal clinical trial of AVXS-101 in SMA Type 1 in the United States in the first half of 2017.

Text from:http://investors.avexis.com/phoenix.zhtml?c=254285&p=irol-newsArticle&ID=2243247

AveXis Gene Therapy AVXS-101 Granted Access into EMA PRIME Program for Spinal Muscular Atrophy Type 1!!

Great news from Avexis!

CHICAGO, Jan. 31, 2017 (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 announced that the European Medicines Agency (EMA) has granted access into its PRIority MEdicines (PRIME) program for the company’s proprietary gene therapy, AVXS-101, for the treatment of spinal muscular atrophy (SMA) Type 1. The PRIME application was based on data from both preclinical evaluations and the ongoing Phase 1 clinical trial of AVXS-101 as of September 15, 2016.

PRIME is intended to enhance support for the development of medicines – specifically those that may offer a major therapeutic advantage over existing treatments or benefit patients without treatment options – through early and proactive support by EMA to optimize the generation of robust data and development plans, and potentially expedite the assessment of the Marketing Authorization Application (MAA) so these medicines may reach patients sooner.

“The acceptance of AVXS-101 into the PRIME program reflects the urgent need for innovative treatment options for the patients diagnosed with SMA in the European Union,” said James L’Italien, Ph.D., Senior Vice President, Chief Regulatory and Quality Officer of AveXis. “We are eager for this enhanced collaboration with the EMA to ensure we are taking the most appropriate and expeditious path toward the development of a robust Marketing Authorization Application submission, and to potentially streamlining the time needed to bring AVXS-101 to patients in the EU suffering from this devastating disease.”

In notifying the company of the acceptance, EMA noted: “The preliminary clinical observations following AVXS-101 administration include positive impact on survival, pulmonary function, nutritional support, preservation of motor function and the attainment of development milestones, all of which are unexpected within the framework of the natural history and disease progression for SMA Type 1. These clinically meaningful responses in the patients treated with AVXS-101 are sufficient preliminary clinical evidence of treatment effect that has the potential to address an unmet need in this devastating pediatric disease.”

In July 2016, the U.S. Food and Drug Administration (FDA) granted Breakthrough Therapy Designation, a comparable program to PRIME used by the FDA, for AVXS-101 for the treatment of patients with SMA Type 1.

AveXis intends to initiate a pivotal trial of AVXS-101 in patients with SMA Type 1 in the European Union before the end of 2017.

About PRIME

The EMA launched the PRIME initiative in March 2016 to foster research and development of medicines that may offer a major therapeutic advantage over existing treatments, or benefit patients without treatment options. PRIME aims to strengthen clinical trial designs to facilitate the generation of high quality data for the evaluation of an application for marketing authorization. To be accepted for PRIME, a medicine has to show its potential to benefit patients with unmet medical needs based on preclinical and/or early clinical data. These medicines are considered priority medicines within the European Union.

After an investigational candidate has been selected for PRIME, developers are assigned a rapporteur from the Committee for Medicinal Products for Human Use (CHMP) to provide continuous support and help to build knowledge ahead of a Marketing Authorization Application (MAA). A multidisciplinary group of experts will provide broader guidance on the overall development plan and regulatory strategy of the product. Companies are also eligible for accelerated assessment at the time of their regulatory application.

For more information, please visit the research and development section of www.ema.europa.eu

Text from: http://investors.avexis.com/phoenix.zhtml?c=254285&p=irol-newsArticle&ID=2240880