New Online Patient Education Program on Gene and Cell Therapies Launched

The American Society of Gene and Cell Therapy (ASGCT) has unveiled a new online resource designed to keep patients, caregivers, and the public apprised of the latest in gene and cell therapies, including those intended for spinal muscular dystrophy (SMA).

Gene Therapy 101 is the organization’s debut release from its new Patient Education Program, designed by ASGTC committee volunteers in tandem with patient advocacy groups. The program’s aim is to provide information on therapies’ status and potential.

Through February, the organization will also explore five diseases, specifically chosen because of the promising statuses of their gene and cell therapies, according to a press release. The diseases and release dates are: SMA, Feb. 1; X-linked myotubular myopathy, Feb. 12; leukodystrophy, Feb. 15; blood disorders, Feb. 22; and inherited retinal disorders, Feb. 28.

This is particularly relevant for SMA, because Zolgensma — developed by Novartis-owned Avexis — is on its way to potentially becoming the first gene therapy approved for the disease, with a U.S. Food and Drug Administration decision expected in May.

Now available online, Gene Therapy 101 discusses gene therapy basics; different approaches to gene therapy and editing, and cell therapy; and how gene therapies go from concepts to treatments. With the help of videos and downloadable graphics, it also provides a host of resources and frequently asked questions.

The site begins by laying out the basics — what gene therapy is, its history, and how it works, explaining what genes are and how gene therapy can help. It also defines what a rare disease is, lists disorders that have gene therapies, and describes the use of viral vectors.

A section on different approaches discusses how the biomedical research fields of gene therapy, cell therapy, and gene editing have a shared goal of treating diseases by altering the genetic makeup of the human body. Supported by a glossary of terms, it also describes how each approach changes genetic material in slightly different ways.

This section also discusses gene and cell therapy versus traditional medications as well as the challenges and benefits of the therapy, including funding and regulatory issues, optimal means of genetic material delivery, long-term effects and maintenance, and therapeutic agent design.

A third section explaining how therapies progress to treatments also discusses the role of the FDA, and the meaning and impact of federal breakthrough, fast track, regenerative medicine advanced therapy, and priority review designations. In addition, it delves into patient access and finding clinical trials.

The upcoming segment on disease-specific treatments opens with SMA, a disease caused by a change, or mutation, in a person’s DNA. In SMA patients, there’s a mutation in the SMN1 gene, which leads to a lack of SMN protein production, and ultimately to the loss of motor neurons. In humans, a second gene — SMN2 — can produce a small amount of SMN protein, but not enough to maintain muscle function.

Investigators have been working on ways to raise the levels of SMN protein in SMA patients. One approach is gene therapy, which scientists believe may be a way to treat the disease. This involves gene alteration, either by replacing a defective gene or adding a new one.

In addition to Avexis, two other companies are investigating gene therapy approaches for SMA, namely Genzyme (a Sanofi company) and Genethon Inserm.

The ASGTC is the nation’s chief professional membership organization for scientists, physicians, patient advocates, and other professionals with an interest in gene and cell therapy.

Text from:https://smanewstoday.com/2019/01/25/online-patient-education-resource-gene-therapy-101/?utm_content=buffercf097&utm_medium=organic+social&utm_source=facebook.com&utm_campaign=buffer

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

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.

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.
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“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.

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.

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