Happy Merry Christmas!

I wish everyone with Happy Merry Christmas!

Started SMA charity marathon

I congratulate everyone on Happy Halloween! Yesterday you helped me and you bought 2 of my pictures. Thank you for that!
But our SMA charity marathon continues.
Buy 10 my pictures every day for a month and you will help me for my treatment. Click and buy right now:https://promote.shutterstock.com/widget/6c0d04d5-5e6d-4622-9f54-de29d886538f/share?fbclid=IwAR0yNpkCGkMl7P-R5Bo-9KRgV-dGXHpg62y_fy4xS1u_cj0C7fV1OuhrjBU

Very GOOD NEWS about gene therapy Avexis

Patient enrollment is complete for AveXis Phase 1 clinical trial testing its gene therapy candidate AVXS-101 in patients with spinal muscular atrophy (SMA) type 2.

“We are pleased that STRONG is now fully-enrolled and expect to report data from this study by May 2019,” David Lennon, PhD, the company’s president, said in an email reply to SMA News Today.

The trial, named STRONG (NCT03381729), will test the safety and tolerability of single-dose intrathecal injection (into the spinal canal) of 27 patients up to 60 months (5 years) of age who are able to sit but not stand or walk.

Evaluation of the higher dose (1.2 X 10^14 vg) will depend on the safety of the lower dose (6.0 X 10^13 vg), each initially tested in three patients. Patients will be divided into two groups: those younger or older than two years at time of dosing. Effectiveness will be evaluated after 12 months of follow-up.

AVXS-101 is designed to deliver a functional copy of the SMN1 gene to cells that control muscle contractions, called motor neurons. SMN1 is defective in SMA patients, leading to lower levels of a working SMN protein, and subsequently to loss of motor neurons, progressive muscle weakness, and atrophy (shrinkage).

All patients in the STRONG trial have SMN1 gene’s exon 7 deleted in both copies, or alleles. Exons are the bits of DNA with information to generate proteins. These patients also have three copies of the SMN2 gene, which produces an unstable and shorter version of the SMN protein.

AVXS-101 is now under review for approval inthe U.S. and Europe for intravenous (IV) delivery in infants up to 9 months of age who have SMA type 1. A pre-application review period also was started in Japan. Final decisions on whether to approve AVXS-101 are expected in mid-2019.

Recently acquired by Novartis, AveXis has been working to ensure adequate supply of AVXS-101 to patients in case it is approved by the U.S. Food and Drug Administration (FDA), Lennon said.

The recent filings were based mainly on the open-label, dose-escalation Phase 1 START trial (NCT02122952), testing the safety, tolerability and effectiveness of two IV-delivered doses of AVXS-101 in 15 babies with SMA type 1, the most severe and common type of the disease.

“Compared to natural history, AVXS-101 delivered rapid improvement in motor milestone achievements, a dramatic survival benefit, and a durable effect going out four years in SMA type 1 patients,” Lennon said.

Early results of the ongoing Phase 3 STR1VE trial (NCT03306277) in type 1 children younger than 6 months showed improvements in movement ability, as well as no need for respiratory or nutritional support.

Although not part of the current applications for approval, older children with SMA type 2, such as those in STRONG, as well as those with SMA type 3, may be the subject of future filings. “Based on clinical results to date for AVXS-101 in SMA type 1, we expect AVXS-101 delivered via IT [intrathecal] administration to also show a positive benefit in [other] SMA subtypes,” Lennon said.

Besides providing information on the potential benefits of AVXS-101 in SMA type 2, STRONG also will help define the next steps of AveXis’ program. “Because it is our first study of the IT formulation of AVXS-101, data from STRONG will also help determine the final design for our planned study in children up to 18 years of age with SMA types 1, 2 and 3,” Lennon said.

This trial, called REACH, is set to begin in 2019 and will include patients ineligible for the company’s other studies.

Overall, this illustrates the company’s aim to expand the indications treated by AVXS-101. In a February interview with SMA News Today, Suku Nagendran, then AveXis chief medical officer, mentioned how Spinraza (nusinersen, by Biogen) progressed over time as a suggestion of what may lie ahead for AVXS-101.

I need your help!

Dear, friends!
I must tell you the sad news! 😥
Unfortunately I could not collect the necessary amount for a charity account for my trip to the clinic in Bologna. Therefore, my trip is canceled this year. I'm very upset and frustrated from this event because my health is deteriorating and it's difficult for me to breathe periodically. But I have to reschedule my trip for May 2019. I say "Thank you very much!" to those who have already sent part of the charitable funds for my treatment!

NOW I again continue collecting charitable donations for my treatment. This amount includes treatment and procedures at the Nigrisoli clinic, the cost of air tickets (for 3 people, I, my mother and grandmother), the cost of my orthopedic corset and orthopedic pillows-holders for the back for my stroller. The total cost of all this is 2000 euros.
I ask you to help me all of you to make a charitable donation or make a repost!
My charity account: PayPal: Lemeshonok@gmail.com

Memory Days of SMA

Today is the Memory Days of remembe of people who passed away from this world from the terrible diagnosis SMA. I remember all of you, my friends.

The shock news! Roche ends development of olesoxime

It was announced today that Roche has taken the difficult decision of ending the development of neuro-protective compound Olesoxime.

In 2016 Roche started the OLEOS study, an open label extension study evaluating the long term safety and effectiveness of olesoxime. Many discussions with Health Authorities (FDA and EMA) and SMA experts were had and the company worked hard to improve the dose and formulation of olesoxime and to design the best Phase 3 study possible to be able to show the efficacy of olesoxime.

Furthermore, they regularly analysed the data from this study. Whilst the data at 12 months of treatment with olesoxime were initially encouraging, the most recent analysis at 18 months, which was presented at the American Academy of Neurology in April 2018, actually showed a worsening in motor function.

Unfortunately, despite all of their efforts and a strong desire to deliver olesoxime as a medicine to people with SMA, Roche has concluded that this is not going to be possible. Based on all of the available evidence and the continued difficulties described above, the company has decided to stop further development of olesoxime.

Many of you will be very disappointed by this news, as we are too. Their immediate priority now is to ensure that those still taking part in the ongoing OLEOS study understand what this decision means for them and that they are provided with appropriate treatment options. Roche is working closely with study sites and investigators to help identify options for those still taking part in the OLEOS study and will share more details about this in the coming weeks. The OLEOS study will be kept open until all ongoing participants have an alternative treatment option confirmed.

text from: http://www.sma-europe.eu/news/roche-ends-development-of-olesoxime/

AveXis provides community update on plans for AVXS-101 in Europe

AveXis has provided SMA Europe with a community update on plans for AVXS-101 in Europe. AVXS-101 is a gene therapy product for SMA.

STR1VE EU

OVERVIEW: STR1VE EU is expected to start enrolling patients in the first half of 2018 in patients with SMA Type 1, studied at multiple centres across the European Union.

ADMINISTRATION: In STR1VE EU, AVXS-101 is administered through a one-time IV infusion.

WHO: STR1VE EU will enroll approximately 30 patients with SMA Type 1 who are less than six months of age at the time of gene therapy.

SPRINT

OVERVIEW: SPRINT is expected to start enrolling patients in the first half of 2018 in presymptomatic patients with SMA Types 1, 2 and 3.

ADMINISTRATION: In SPRINT, AVXS-101 is administered through a one-time IV infusion.

WHO: SPRINT is expected to enroll approximately 44 patients with two, three and four copies of SMN2 who are less than six weeks of age and pre-symptomatic at the time of gene therapy.

REACH

OVERVIEW: REACH is expected to start enrolling patients late in 2018 or early in 2019 in
patients with SMA Types 1, 2 and 3.

ADMINISTRATION: In REACH, AVXS-101 is administered through a one-time IT injection. Data from STRONG (the first study of AVXS-101 delivered through IT injection) will help determine the final study design.

WHO: REACH is expected to enroll approximately 50 patients with SMA Types 1, 2 and 3 who are between approximately six months and 18 years of age.


Text from: http://www.sma-europe.eu/news/avexis-provides-community-update-on-plans-for-avxs-101-in-europe/

FDA Grants Orphan Drug Status to SRK-015 for SMA

SRK-015 has received orphan drug status designation by the U.S. Food and Drug Administration (FDA) to treat muscle atrophy in patients with spinal muscular atrophy (SMA).

SRK-105 is Scholar Rock’s lead product candidate, intended to improve muscle strength and motor function in SMA patients. The potential therapy selectively inhibits the activation of myostatin, a protein mainly produced in skeletal muscle cells that suppresses muscle growth.

Absence of the MSTN gene, which codes for myostatin, is associated with increased muscle mass and strength in animal models. Based on preclinical evidence from animal models, scientists at Scholar Rock believe that inhibiting the activation of myostatin will promote a similar, clinically meaningful effect.

Mice studies showed that SRK-105 can prevent additional atrophy in animals with muscle wasting and can improve muscle mass and function. Promising findings were also reported in studies with primates, where the investigational compound was able to increase animals’ lean body mass, particularly in a type of muscle fiber affected by SMA.

These preclinical studies support the company’s decision to advance into clinical testing in SMA patients.

According to Scholar Rock, SRK-105 may become the first muscle-targeting treatment to reverse or prevent muscle atrophy in patients with SMA. It could be used both as a stand-alone therapy and as a combination treatment with the current standard of care.

“We are very pleased that the FDA granted Orphan Drug Designation to SRK-015 for the treatment of patients suffering from SMA, and we appreciate that the agency’s decision came much earlier than anticipated,” Nagesh Mahanthappa, PhD, President and CEO of Scholar Rock, said in a press release.
JOIN THOUSANDS OF SUBSCRIBERS TO RECEIVE FREE SMA NEWS UPDATES!

Headline description goes here

“This designation is an important milestone in the development of our lead product candidate along the path towards a first-in-human Phase 1 clinical trial in the second quarter of 2018,” Mahanthappa added.

Orphan drugs are intended for the treatment, diagnosis or prevention of rare diseases affecting fewer than 200,000 people in the United States. The designation also can be granted for diseases affecting more than 200,000 people if there is no reasonable expectation that the company will be able to recover the costs of drug development and marketing.

The designation is granted if there is a medically plausible basis for using the treatment candidate. Orphan drug status provides incentives for product development, including tax credits for clinical trials, exemption from a prescription drug user fee, and access to protocol assistance from the FDA.

Companies may also benefit from seven years of market exclusivity if the drug is ultimately approved.

Text from:https://smanewstoday.com/2018/04/06/promising-sma-therapy-srk-015-gains-orphan-drug-status-from-fda/?amp

My Easter charity event

Dear, friends!

Long time I don't wrote here, because I had problem with my spine, again I had spinal pain, its very terrible, but now me better and I am here.

Now I want to say that in May I will have to go to a clinic in Bologna for treatment, my doctor told me about it. This treatment will improve my condition. But now I need your help! I need charitable funds to buy plane tickets to Italy for treatment.

In soon time will be Easter and I am now announcing charity event. In this online gallery sale of my artworks. If you want to help me you can buy my paintings here: https://www.saatchiart.com/account/artworks/60435

I will be very grateful if you will help me find funds for treatment and travel.

AveXis Plans a May Start for Phase 3 European Trial of Its SMA Type 1 Gene Therapy

AveXis’ expects to start a Phase 3 clinical trial of its spinal muscular atrophy (SMA) gene therapy AVXS-101 in Europe in May.

The STR1VE-EU trial (NCT03461289) is expected to include up to 30 children under 6 months of age with type 1 SMA, the disease‘s most severe and common form. All will receive a single dose of intravenous AVXS-101.

The therapy’s safety and effectiveness will be assessed regularly until the babies reach 18 months. At that point, their parents can allow those who are eligible to take part in a long-term follow-up study.

Researchers will be looking at whether the infants can sit without support and also the number who survive until 14 months of age.

The trial will be conducted in Belgium, France, Germany, Italy, the Netherlands, Spain, Sweden, and the U.K. It is expected to be completed in November 2020.

AVXS-101 contains a normal version of the SMN gene that is defective in SMA. Movement nerve cells need a normal version to survive and thrive.

AveXis delivers the gene with a non-infectious virus. The company designed it to be a one-time treatment to prevent muscle degeneration over a lifetime, it said in a recent interview with SMA News Today.

Babies who take part in the STR1VE-EU trial must have mutations of both SMN1 alleles and one or two copies of SMN2. Alleles are gene variations. In most cases, the more copies a patient has of SMN2, the less severe the disease will be.

AveXis has already conducted a Phase 1 trial (NCT02122952) of AVXS-101 in 15 type 1 SMA infants, who received the therapy before they reached six months of age.

The key finding was that all of the children survived for 20 months. This was a huge improvement over what normally happens — 92 percent of children dying by that age.

Another stunning result was that 11 of the 12 children who received the high dose of the therapy were able to sit unassisted, eat food through their mouth, and speak. Nine were able to roll over, and two could walk without help.

AveXis continues to recruit participants for its ongoing STR1VE Phase 3 trial (NCT03306277) in the United States. The trial is also looking at AVXS-101’s safety and effectiveness in children with type 1 SMA who are less than 6 months old. Results similar to those seen in the completed Phase 1 study were observed in the first three children dosed, AveXis said.

Meanwhile, the company continues to recruit patients for its ongoing STRONG Phase 1 trial (NCT03381729) in children up to 60 months of age with type 2 SMA. Unlike the studies in type 1 SMA, which use intravenous therapy administration, patients in the STRONG trials will receive AVXS-101 in the spinal canal, which enables a more targeted treatment.

AveXis also plans the SPRINT trial program for infants under 6 weeks of age with no symptoms but who are likely to develop SMA types 1, 2, or 3, and the REACH program for types 1-3 SMA patients ages 6 months to 18 years who are ineligible for the other studies.

SPRINT and REACH will be worldwide trials. SPRINT is expected to start by mid-2018 and REACH by late 2018 or early 2019.

AveXis and France-based Genethon, which developed AVXS-101, recently announced an agreement granting AveXis the rights to patents in the U.S., Europe and Japan that cover Genethon’s AAV9 SMN gene therapy technology and delivery system. They cover delivery by IV and the spinal canal.

Text from:https://smanewstoday.com/2018/03/23/avexis-sma-gene-therapy-european-phase-3-trial-to-start-in-may/?utm_content=bufferf6d7e&utm_medium=organic+social&utm_source=facebook.com&utm_campaign=buffer

My Rare Disease Day

If you do not like something in your life, just turn the page of your life and start writing again ...

I did so a few years ago. I was destined to be born rare, because I have rare genetic disease Spinal Muscular Atrophy. This is a very rare serious and dangerous disease of muscles and spinal cord, every 10,000 people are born with this disease. And it is incurable yet in any country in the world. In my life there were a lot of hard moments, but there was also a lot of good. But despite this, I've been waiting for a miracle all my life, because I believed that it was possible.

One day in 2013, I read article that the Gene Therapy drug was invented in the USA as a hope for future treatment of SMA. From that moment have passed 5 years and in my life much has changed. I regularly followed of the news of medecine, in which says that in the coming years gene therapy may be available in many countries. And I'm very happy about that. Because during these many years of waiting, new discoveries in medecine are constantly being created and new drugs and ways of treating SMA are being created.

In my life too have been changes. Now every year I go to the Italian clinic Nigrisoli in Bologna for treatment, and I get treatment there from the best specialist of SMA, Dr. Villanova. And I think that this is already a miracle for me.

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

Rare Disease Day

28 February will be Rare Disease Day!

Many people in all the world has Rare Disease and them need your help.
My disease - Spinal Muscular Atrophy is Rare Disease.

Do not forget about this Day.

Happy Valentines Day!

Happy Valentines Day to all my friends!

Help me! Buy to my art pictures!

Hi, my friend!

Today again started charity month for help me in my treatment in Italy. For help me collect charitable donations, click on this link, go to my online store and buy pictures. It's very simple and very cheap.
So, let's go: https://www.shutterstock.com/ru/g/monika27

SMA Expert Arthur Burghes, Speaking in Poland

Underscoring the enormous progress researchers have made understanding spinal muscular atrophy, Dr. Arthur Burghes called for newborn screening for the incurable degenerative disease and the urgent approval of new therapies for it.

Burghes’ remarks came in a keynote lecture at today’s start of the International Scientific Congress on Spinal Muscular Atrophy in Kraków, Poland. The Jan. 25-27 event is the first in Europe dedicated specifically to the disorder, which occurs in roughly one in every 10,000 births.

Burghes, a professor of biological chemistry and pharmacology at Ohio State University College of Medicine, spoke on the subject “Where Have We Come, Where Do We Go?” The SMA expert, who has a PhD from the University of London and did post-doctoral work at the University of Toronto, has spent 30 years studying the disorder.

“During the time I’ve been researching SMA, we’ve gone from not knowing the gene [underlying the condition], to identifying the gene, to having mice models of the disease, to having large animal models, to actually having therapies,” Burghes told SMA News Today in phone interview Jan. 18 from his lab in Columbus, Ohio. “When those therapeutics are given early in the disease course or even before symptoms occur, they have a major effect on the progression of the disease.”


EU Approval of Spinraza a Turning Point

The conference that Burghes and 400 other SMA experts are attending comes six months after the European Union approved Biogen’s Spinraza (nusinersen) for SMA types 1, 2 and 3.

Type 1, the most severe form of the disease, is usually diagnosed at birth or within the first six months of life. It is caused by mutations of the SMN1 gene that lead to a shortage of the survival motor neuron, or SMN, protein. Spinraza works by altering SMN2, a gene nearly identical to SMN1 that in healthy people generates only a small amount of SMN. The drug’s aim is to cause SMN2 to produce enough functional SMN protein to increase the survival of motor neurons, nerve cells that control movement.

“What pathway is critical for the destruction of motor neurons, or is it a combination of pathways with SMN functioning? What do those pathways each contribute?” Burghes asked. “We don’t really know the answers to these questions, but what’s critical in answering them is to have suppressors that suppress each of those specific pathways and have them tested in mice, so we can learn how the actual biochemistry of the disease works.”

He added that “there are definitely modifiers of the SMA phenotype. Can these modifiers be identified and used in combination with therapies already out there? We don’t know.”

More Approved Therapies Bring Prices Down

Spinraza, which is delivered by injection, has a list price of $125,000 per dose, so the first year’s six injections cost $750,000. This makes it one of the world’s most expensive medications.

Last August, Switzerland’s Roche began enrolling infants with SMA type 1 in a Phase 2 study of RO7034067, a therapy that targets SMN2. The move came after positive early results in a similar study of the compound in older children with type 2 and 3 SMA.

“Spinraza, gene therapy and the Roche compound all induce [trigger the production of] SMN. We need all three of these therapies approved,” Burghes said. “Why? Because it allows competition in the marketplace. If these therapies have to compete against each other, the price will be immediately reduced. So one of the first things we need to do is push forward these clinical studies.”

He explained that “we’ve developed treatments that work very well when given early. They work less well when given in symptomatic cases. That means they don’t have as dramatic an effect, and we would all like the most dramatic effect. So which therapies can you put together to get a more dramatic effect, and how should those go together?”

Full text: https://smanewstoday.com/2018/01/25/sma-expert-arthur-burghes-in-a-speech-in-poland-urges-universal-newborn-screening?utm_content=buffere6ae7&utm_medium=organic+social&utm_source=facebook.com&utm_campaign=buffer

AveXis Announces Alignment with FDA on Next Steps Toward a BLA Submission for AVXS-101 in SMA Type 1

CHICAGO, Jan. 04, 2018 (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 provided an update following the receipt of minutes from the end-of-Phase 1 meeting with the U.S. Food and Drug Administration (FDA) conducted on December 5, 2017, regarding the company’s primary gene therapy candidate, AVXS-101, for the treatment of spinal muscular atrophy (SMA) Type 1.

The goal of the end-of-Phase 1 meeting was to review the non-clinical, clinical and Chemistry, Manufacturing and Controls (CMC) data that has been generated by AveXis to date, and to align with the FDA on next steps leading to a Biologics License Application (BLA) submission. The FDA provided detailed information requests in each of the areas discussed, which the company plans to address by submitting the requested information to the investigational new drug (IND) application on an on-going basis. AveXis has been working on many of these areas of focus in anticipation of the requests at some point during the review process. AveXis also plans to provide available data from its on-going pivotal trial of AVXS-101 in SMA Type 1 (STR1VE) prior to the pre-BLA meeting.

“We are very pleased that the constructive and collaborative discussion during the end-of-Phase 1 meeting resulted in the identification of the specific next steps we must take on our path to a BLA submission for AVXS-101 in SMA Type 1,” said Sean Nolan, President and Chief Executive Officer of AveXis. “We greatly appreciate the level of clarity we received from the FDA and will provide our responses on an on-going basis through a series of submissions to the IND, with the expectation that we will request a pre-BLA meeting in the second quarter of 2018.”

The general purpose of the pre-BLA meeting is to outline what information is to be submitted in the BLA and how that information will be submitted. AveXis intends to make the requested data submissions to the IND in advance of the pre-BLA meeting, which may allow the meeting itself to focus on how the BLA and supportive information will be submitted.

Today’s Conference Call Information

AveXis will host a conference call and webcast at 4:30 pm EST today, January 4, 2018. 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 8188476. 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 90 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 8188476. Full text:https://globenewswire.com/news-release/2018/01/04/1283628/0/en/AveXis-Announces-Alignment-with-FDA-on-Next-Steps-Toward-a-BLA-Submission-for-AVXS-101-in-SMA-Type-1.html

Today started 2018 New Year

Hi, everyone!

Today started 2018 New Year. Past year was wonderfull year, because in that year was approved first in the world drug for treatment SMA. I think that it is super news for everyones. And I very happy for all my friends who was accepted on this drug.
I wish to you everyone happy and hope on the best... Because I always believe in miracle.