Duchenne Research Update: October 2016

When I first joined the Duchenne community in 2009 at Children’s National Medical Center, I remember thinking that I was walking into a critical juncture in Duchenne history. There were three compounds in the clinic (drisapersen, ataluren, and eteplirsen aka Exondys 51) with more waiting in the wings to go into clinical trials, a drug development/regulatory landscape primed for rare disease drug development and, perhaps the most important piece, an engaged community of patients and families ready to roll up their sleeves and disrupt the process to create momentum.

As I sit to write this research roundup I realize it was not only a critical juncture, but the beginning of a new era in drug development. While we are not there yet, we are certainly in the midst of a dynamic, active research and development cycle with many opportunities being explored.

So much has happened in recent weeks in the Duchenne space that it is hard to keep up. While approvals and partnerships and regulatory actions have dominated the press, there is still a lot of pre-clinical and early stage clinical researchhappening behind the scenes, with great potential.

Here Is a Summary of What Is Going On:

First US Approval of a Duchenne Therapy

Sarepta Therapeutics received accelerated approval for Exondys 51 on September 19, 2016, with post regulatory commitments spelled out in the approval letter.

For those US patients amendable to an exon 51 skip you can contact SareptAssist for questions about access. If you are uncertain if you or your child is amenable to exon skipping, visit Decode Duchenne for free genetic testing and counseling.

Sarepta Collaborations

Sarepta recently announced two partnerships to broaden their portfolio of Duchenne therapeutic options.One partnership is with Catabasis who is pursuing an NF-kB inhibitor program (a protein that is activated in Duchenne and drives inflammation and fibrosis, muscle degeneration and suppresses muscle regeneration). The other is a licensing agreement with Summit Therapeutics, the developer of ezutromid, a utrophin modulator.Utrophin is a naturally occurring protein that is functionally and structurally similar to dystrophin.

Sarepta is expected to file an application for Exondys 51 in the European Union (EU) soon, but will have to resolve the patent issues with BioMarin to have the freedom to commercialize it there.

The Essence trial, for those amenable to exon 45 or 53 skips, has enrolled its first patients and is underway.

Under Review at FDA

Deflazacort, Marathon Pharmaceutical’s product, is under review at the FDA and a decision is expected sometime in February 2017. In the meantime, their expanded access program is underway. We look forward to more updates from Marathon in the coming weeks.

PTC Therapeutics holds a conditional approval for Translarna (ataluren) in the EU but received a refusal to file (RTF) letter in the US in February. Just this week, we learned that the FDA denied PTC first appeal of the RTF. As we understand it, this is a process and may involve additional appeals. PPMD will be meeting with PTC to better understand the communications that transpired between the agency and the company and how we as a community can support this process moving forward. In the meantime, a paper in PNAS was just published on the mechanism of action. They also recently published compelling pulmonary data in non-ambulatory patients.

Additionally, PPMD has been collecting patient experience data from those who have been on Translarna.Please take this survey if you have been in a clinical trial or are currently on drug.

PPMD continues to urge the FDA to give Translarna a full review and to conduct an advisory committee meeting.

Request by FDA for More Data

Santhera Pharmaceuticals filed for approval in the US for Raxone in non-glucocorticoid treated patients. The FDA said they wanted to see trial results of their Phase 3 in glucocorticoid treated patients before deciding. This could potentially delay an approval for 3 years.

Last year PPMD conducted a patient preference study around pulmonary outcomes in Duchenne. We found that patients and caregivers are willing to accept risk and burden in order to achieve pulmonary benefit., and that a drug like Santhera’s Idebenone presents a favorable choice for a potential treatment. PPMD shared these results with the FDA and we have also expressed the frustration of our community regarding the decision not to let Santhera file for accelerated approval.Read the report.

This Generation of Clinical Trials

The Duchenne community has worked hard to achieve such a rich pipeline of trials that are in the clinic, many of them supported by PPMD in earlier stages. We need to ensure trials are thorough and efficient, determining viability quickly, so that we don’t waste precious time and resources.

While this is not an exhaustive list, it does cover the candidates that are on the horizon. The first two, as mentioned, have partnerships with Sarepta, which will help them financially as they make their way through the riskier part of the development process.

New research increases understanding of Duchenne muscular dystrophy

BINGHAMTON, NY – A new paper, co-written by faculty at Binghamton University, State University of New York, increases the understanding of Duchenne muscular dystrophy (DMD)–one of the most common lethal genetic disorders–and points to potential therapeutic approaches.

“The findings suggest that the immune system has an important role in the muscle disease of Duchenne muscular dystrophy,” said Eric Hoffman, professor of pharmaceutical sciences and associate dean for research at Binghamton University’s School of Pharmacy and Pharmaceutical Sciences.

DMD, the most common of many types of muscular dystrophy, generally occurs in young boys, where they first show signs of muscle weakness in early school years. The disease then gradually destroys muscle tissue, so that boys lose the ability to walk in their early-mid teens, and then later succumb to respiratory or cardiac failure. All patients with DMD have gene mutations in the dystrophin gene so that they do not make dystrophin protein in muscle tissue. The dystrophin gene is the largest gene in the human genome; lack of dystrophin protein was discovered as the cause of DMD by Hoffman in 1987.

While all DMD patients share the same genetic and protein problem in muscle, they often show differences in the severity of their disease. Some are particularly severe (losing ambulation at just 8 or 9 years of age), whereas others are much less severe (walking until their 20s).

Hoffman and his colleagues sought to determine why different DMD patients responded differently to the same loss of the dystrophin protein in their muscle. After studying hundreds of DMD patients, they confirmed that the gene CD40, an important modulator of the immune system, held a polymorphism that modified the severity of Duchenne muscular dystrophy. Polymorphisms are subtle differences in genes that dictate the color of hair, height, skin color and many other aspects that make each person unique.

“Slight differences in the immune system lead to different reactions regarding the muscular dystrophy. The immune system needs to be balanced: too much or too little is a bad thing in any immune response. This balance may be shifted in muscular dystrophy due to the CD40 polymorphism,” said Hoffman.

“If a genetic polymorphism of CD40 leads to milder disease in DMD, then it follows that drugs targeting CD40 may also improve patient symptoms,” added Hoffman. “This research opens new therapeutic avenues to try to develop therapies for DMD.”

The paper, “Association Study of Exon Variants in the NF-kB and TGFb Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy,” was published in The American Journal of Human Genetics.

FDA grants accelerated approval to first drug for Duchenne muscular dystrophy

The U.S. Food and Drug Administration today approved Exondys 51 (eteplirsen) injection, the first drug approved to treat patients with Duchenne muscular dystrophy (DMD). Exondys 51 is specifically indicated for patients who have a confirmed mutation of the dystrophin gene amenable to exon 51 skipping, which affects about 13 percent of the population with DMD.

“Patients with a particular type of Duchenne muscular dystrophy will now have access to an approved treatment for this rare and devastating disease,” said Janet Woodcock, M.D., director of the FDA’s Center for Drug Evaluation and Research. “In rare diseases, new drug development is especially challenging due to the small numbers of people affected by each disease and the lack of medical understanding of many disorders. Accelerated approval makes this drug available to patients based on initial data, but we eagerly await learning more about the efficacy of this drug through a confirmatory clinical trial that the company must conduct after approval.”

DMD is a rare genetic disorder characterized by progressive muscle deterioration and weakness. It is the most common type of muscular dystrophy. DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. The first symptoms are usually seen between three and five years of age, and worsen over time. The disease often occurs in people without a known family history of the condition and primarily affects boys, but in rare cases it can affect girls. DMD occurs in about one out of every 3,600 male infants worldwide.

People with DMD progressively lose the ability to perform activities independently and often require use of a wheelchair by their early teens. As the disease progresses, life-threatening heart and respiratory conditions can occur. Patients typically succumb to the disease in their 20s or 30s; however, disease severity and life expectancy vary.

Exondys 51 was approved under the accelerated approval pathway, which provides for the approval of drugs that treat serious or life-threatening diseases and generally provide a meaningful advantage over existing treatments. Approval under this pathway can be based on adequate and well-controlled studies showing the drug has an effect on a surrogate endpoint that is reasonably likely to predict clinical benefit to patients (how a patient feels or functions or whether they survive). This pathway provides earlier patient access to promising new drugs while the company conducts clinical trials to verify the predicted clinical benefit.

The accelerated approval of Exondys 51 is based on the surrogate endpoint of dystrophin increase in skeletal muscle observed in some Exondys 51-treated patients. The FDA has concluded that the data submitted by the applicant demonstrated an increase in dystrophin production that is reasonably likely to predict clinical benefit in some patients with DMD who have a confirmed mutation of the dystrophin gene amenable to exon 51 skipping. A clinical benefit of Exondys 51, including improved motor function, has not been established. In making this decision, the FDA considered the potential risks associated with the drug, the life-threatening and debilitating nature of the disease for these children and the lack of available therapy.

Under the accelerated approval provisions, the FDA is requiring Sarepta Therapeutics to conduct a clinical trial to confirm the drug’s clinical benefit. The required study is designed to assess whether Exondys 51 improves motor function of DMD patients with a confirmed mutation of the dystrophin gene amenable to exon 51 skipping. If the trial fails to verify clinical benefit, the FDA may initiate proceedings to withdraw approval of the drug.

The most common side effects reported by participants taking Exondys 51 in the clinical trials were balance disorder and vomiting.

The FDA granted Exondys 51 fast track designation, which is a designation to facilitate the development and expedite the review of drugs that are intended to treat serious conditions and that demonstrate the potential to address an unmet medical need. It was also granted priority review and orphan drug designation.Priority review status is granted to applications for drugs that, if approved, would be a significant improvement in safety or effectiveness in the treatment of a serious condition.Orphan drug designation provides incentives such as clinical trial tax credits, user fee waiver and eligibility for orphan drug exclusivity to assist and encourage the development of drugs for rare diseases.

The manufacturer received a rare pediatric disease priority review voucher, which comes from a program intended to encourage development of new drugs and biologics for the prevention and treatment of rare pediatric diseases. This is the seventh rare pediatric disease priority review voucher issued by the FDA since the program began.

Exondys 51 is made by Sarepta Therapeutics of Cambridge, Massachusetts.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation’s food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.

Duchenne advocates’ wait for an FDA decision nears the six-month mark

One is hiking up the highest mountain in Malaysia to raise awareness for the disease. One has spent the last couple months vetting drug trials that are now enrolling across the U.S. One is just trying to remain optimistic in the face of a complete lack of news from the company as well as the federal agency that holds the near-term fate of thousands in its hands.

It’s been nearly six months since the Food and Drug Administration’s original Feb. 26 deadline to make a decision whether to approve the experimental drug for Duchenne muscular dystrophy by Cambridge-based Sarepta Therapeutics (Nasdaq: SRPT). That date has been pushed back repeatedly — first due to a snowstorm, then due to the FDA’s “continuing review and internal discussions” of the scientific data surrounding the drug, called eteplirsen.

Currently, no one appears to know when a decision will be forthcoming. Rumors that the company may be presenting at the Morgan Stanley Global Healthcare Conference 2016 next month — which would suggest the company is expecting its “quiet period” pending the FDA’s decision could end soon — are as yet unconfirmed (the company isn’t commenting). Likewise, speculation that the holdup at the FDA is due to disagreement between higher-ups at the agency and the specific division that conducted the review of the drug are also just that — speculation.

Asked about the ongoing delay and the effect it’s having on patients and their families, the FDA’s head of drug approvals, Janet Woodcock, said she’s bound by law not to comment. But patient advocates themselves have told me in recent days that the wait is taking a toll. Beyond the hundreds of boys with Duchenne who have died, been forced to use wheelchairs or lost their ability to feed themselves in the past few months, Christine McSherry, head of the Massachusetts-based advocacy group, the Jett Foundation, said that many patients are refusing to enroll in other drug studies until a decision on eteplirsen has been rendered.

“There are lots of kids out there who could start another trial,” said McSherry, a Pembroke resident. But many aren’t, she said, for fear that they’d have drop out if the drug is approved, and then may need to wait additional weeks for any other drug to flush out of their system before being eligible to take eteplirsen.

“What would happen if they should enroll their child in another trial?”

McSherry — whose 19-year-old son, Jett, has the disease — said local companies like Catabasis Pharmaceuticals (Nasdaq: CATB) are currently enrolling in Duchenne trials, as are San Francisco–based FibroGen and Beverly Hills, California-based Capricor Therapeutics. “We’ve been doing due diligence on these trials to make sure people know about them,” she said.

Cath Jayasuriya, founder and executive director of Newport Beach, California-based Coalition Duchenne and the mother of a 23-year-old with Duchenne, said in an email, “The delay in making a decision ignores the tremendous cost to boys and young men with Duchenne and their families.”

Today, Jayasuriya is in Borneo for her foundation’s 6th annual Expedition Mt. Kinabalu, a way of raising awareness for Duchenne. “Here we are launching a new initiative aimed at underserved boys in rural areas and helping where ever we can,” she said.

But Debra Miller, the founder of another disease foundation that also happens to be in Newport Beach called CureDuchenne, says she’s choosing to take the glass-half-ful approach.

“Every single day that we don’t have a denial is a good day,” she said. She believes that “there’s a lot going on behind the scenes” at the FDA, and says, “I think they really want to approve the drug.”

Still, she said the lack of a specific timeline is frustrating. “It’s wearing on the community for sure,” she said.

NHS England Enables Access to Translarna™ (ataluren) For Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Important decision allows reimbursed access to Translarna, the first approved therapy to treat the underlying cause of Duchenne muscular dystrophy

SOUTH PLAINFIELD, N.J., July 7, 2016 /PRNewswire/ — PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced that the company and NHS England have successfully negotiated a Managed Access Agreement (MAA) for Translarna (ataluren) for ambulatory patients aged five years and older with nonsense mutation Duchenne muscular dystrophy (nmDMD). This decision provides reimbursed patient access to Translarna in England via a five-year MAA. Translarna previously received a positive recommendation from the National Institute for Health and Care Excellence (NICE) in April of 2016, subject to PTC and NHS England finalizing the terms of the MAA. NICE is expected to issue final guidance later this month following execution of the MAA, with implementation soon after.

Primarily affecting males, Duchenne muscular dystrophy (DMD) is a progressive muscle disorder caused by the lack of functional dystrophin protein. Dystrophin is critical to the structural stability of skeletal, diaphragm, and heart muscles. Patients with DMD lose the ability to walk from as early as 10 years of age and experience life-threatening lung and heart complications in their late teens and early twenties.

“This is an important day in England for children and young adults suffering from DMD,” said Stuart W. Peltz, Ph.D., Chief Executive Officer, PTC Therapeutics, Inc. “We are extremely pleased to have reached a successful outcome with NHS England, which will provide long-awaited access to Translarna for patients with nonsense mutation DMD. We are grateful to the patients, families, advocacy groups and physicians for their tremendous effort in supporting PTC Therapeutics throughout this important and rigorous access process.”

PTC and NHS England have now finalized the outstanding aspects of the MAA which include a confidential financial arrangement and the collection of further data on the efficacy of Translarna for the treatment of nmDMD over a five-year period with NICE guidance to be reviewed again at the end of that period, before future funding decisions are taken.

Translarna received marketing authorization from the European Commission to treat nmDMD in August 2014, which is currently under annual review by the European Medicines Agency with an opinion on renewal expected mid-2016. Translarna is currently available to patients in more than 20 countries through either expanded access programs or commercial sales.

About Translarna™ (ataluren)Translarna, discovered and developed by PTC Therapeutics, Inc., is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation. A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein. The resulting disorder is determined by which protein cannot be expressed in its entirety and is no longer functional, such as dystrophin in Duchenne muscular dystrophy. Translarna is licensed in the European Economic Area for the treatment of nonsense mutation Duchenne muscular dystrophy in ambulatory patients aged five years and older. Translarna is an investigational new drug in the United States . The development of Translarna has been supported by grants from Cystic Fibrosis Foundation Therapeutics Inc. (the nonprofit affiliate of the Cystic Fibrosis Foundation); Muscular Dystrophy Association; FDA’sOffice of Orphan Products Development; National Center for Research Resources; National Heart, Lung, and Blood Institute; and Parent Project Muscular Dystrophy.

Further information about Translarna, including the European Public Assessment Report, Summary of Product Characteristics and Patient Information Leaflet, is available on the European Medicines Association website.

This medicinal product is subject to additional monitoring. Healthcare professionals are asked to report any suspected adverse reactions via the national reporting system or to PTC at [email protected].

SickKids’ new Paediatrician-in-Chief weighs in on how far we’ve come and the power of integration in genetics

On July 1, Dr. Ronald (Ronni) Cohn stepped into his new role as Paediatrician-in-Chief at The Hospital for Sick Children (SickKids). As Cohn, Senior Scientist in Genetics & Genome Biology, prepares to lead SickKids into a genetics-fuelled future, he reflects on how the field has evolved, and looks ahead at the potential of individualized medicine in addressing currently untreatable paediatric conditions.

What made you decide to devote your career to the field of paediatric genetic medicine?

It’s interesting because I always thought I would be a surgeon – I wanted to be a trauma surgeon. I worked in the emergency room as a medical student. One of the first things I realized in the emergency room was that I was always particularly engaged when we had children come in. I started to figure out that this is the population of patients I wanted to take care of one day.

Then our very close friends had a child born with a genetic disease – diagnosed as a mitochondrial disease. I decided I wanted to write my thesis about this. And I did, but I didn’t end up becoming a mitochondrial expert. I did a clinical study and then decided I wanted to do basic science. So then I went on to do muscular dystrophy work. So that’s how I ended up in the neuromuscular/neurogenetics world, through a very personal experience.

What were the major clinical and scientific challenges in the field when you began your career, and what are the challenges today?

When I started medical school it was just about the time people started to clone genes. There was the identification of the cystic fibrosis gene and the Duchenne muscular dystrophy gene – we were just trying to do positional cloning for genes back then. With that, we could start to think about the underlying pathogenesis. We are still doing a lot of this, trying to understand why a certain gene mutation develops into a certain disease.

Once the dystrophin gene was identified as the cause for Duchenne muscular dystrophy, all of a sudden we started to develop a concept of what this disease is.

Since then, some major things happened:

First of all, as we gain a better understanding of the number of genes in a human genome, hundreds and hundreds of studies into different models of disease have been conducted and we are starting to understand more, find more and more genes, and learn how to better organize and share the genomic data to enable enhanced scientific and clinical discoveries.

But really the major change during my career has been the coding of the human genome, which is now leading to genome sequencing. We’re already utilizing genome sequencing frequently in the clinic. This has almost become a routine genetic diagnostic test – it’s not quite there yet but we’re going to get there soon.

And the next big thing that happened just three years ago was the characterization of this gene editing technology, CRISPR, which now gets us to a point where we can actually start to conceptualize how to fix a genetic disease. This is very exciting and challenging as a scientist and clinician.

When we started to identify genes for diseases – which is still an ongoing effort – it was just a handful of those that were known. There’s been rapid development in identifying genetic disorders and this will help us to ultimately achieve better patient outcomes.

Still, with the identification of these disorders, there’s not much impact when it comes to how you can manage or treat a patient. And now with this gene editing technology just at the cusp, I can actually start developing that concept of how could I actually fix this, which I couldn’t even be thinking about three years ago. It is amazing.

What achievement are you most proud of so far in your career?

That’s a hard question. If somebody asked me my proudest moment in research – I could answer that. That was when we were able to fix the muscle cells of a boy with DMD in the lab and the dystrophin came back. If you asked me what was the best moment I’ve ever had in research, then that was it.

But if you look at my entire career, at the end of the day, I’ve received a lot of feedback from parents who are just grateful for whatever we try to do to help them get through a difficult time.

And honestly, we all want to have a breakthrough research discovery, and maybe I foresee a bit of a eureka moment to fix a genetic disease in a child. But at the end of the day, there’s nothing more gratifying than knowing you just helped somebody get through a really, really tough situation.

What drew you to SickKids?

It really was the opportunity to lead a division in genetics which I thought had almost unprecedented opportunities, given the patient population we serve here and being an environment that can really move things forward.

When I interviewed here I made it very clear one of the goals was to make genetics not just visible within the hospital, but integrated into the hospital. And I imagined there was a terrific opportunity here. I think we have made significant progress.

One major contributor is the culture and dedication of the people who work here, from the physicians to the person who changes the lightbulbs. I feel like it’s close to unprecedented. That’s what makes this hospital such a great hospital – it’s because of the people who work here. Everyone in this institution rallies for our patients and is extremely proud to be part of that team contribution. And that’s what’s so special about SickKids.

Dr. Denis Daneman is leaving some big shoes to fill. How has he paved the way for you to bring SickKids’ Department of Paediatrics to the next level?

I’m not going to even attempt to fill his shoes, but what I’m going to attempt to do is to build on the legacy he is leaving behind. I think he is probably the best mentor I’ve ever had in my life, and I think that most of the people here would agree with me and say the same thing. He has this unbelievable mixture of intellect, sensitivity, humility – I’ve never met anybody like him. He’s a visionary guy. He sees what’s important in all different areas of paediatrics and he has made contributions and decisions that have put things into place that achieved great outcomes. I don’t have to come in and fix – I can come in and build, which is probably the biggest gift he is leaving behind, not just for me, but for the entire department.

How does being a clinician inform your science?

My clinic informs the questions I ask in science. When I see a patient, I bring it back to my lab for discussion. Everything in my laboratory is related to a patient’s disease. When students come to me and ask me about what I do, I tell them if you want to work with me, you need to know that I’m not doing the basics of basic science – I’m always asking a question that is at least somewhat related to a patient I see in the clinic.

How does being a scientist inform your role as a physician?

Wearing the lens of a scientist makes me a more critical thinker about my patients. I feel like it helps me sometimes understand why certain things are happening in patients because I have a bit of a different view in thinking about clinical issues. I’m not sure it’s better – it’s just a different approach to patients that is clearly informed through the science.

What’s on the horizon?

Where the power is going to be over the next 10 years is to finally integrate all the kinds of information we can gather from one patient. We’ve already started to do this: in sequencing the genome, you’re collecting an enormous amount of physiology data, environmental data and social determinants of health. By taking the individual and putting all the data we can get together, we’ll be able to understand the individual and treat the individual in a way that is really beneficial, and not just a “best guess” type of management and treatment but rather individualized patient care.

The transformational change is to combine all of this. And that’s what we’re going to have to do. Putting all these pieces together is what’s going to really deliver on what I like to call individualized care. This approach to clinical care will change the future of paediatric medicine; improving outcomes for kids with very rare diseases just as much as for kids with very common diseases.

SickKids is well-positioned to advance the field of genetics because…

… it combines successful cutting-edge research with an unprecedented patient population that allows us to actually translate and bring the research discoveries into clinic.

PTC Initiates Phase 2 Clinical Trial of Translarna™ (ataluren) for Treatment of Nonsense Mutation Duchenne Muscular Dystrophy in Pediatric Patients Between the Ages of Two and Five Years

PTC Therapeutics has announced that they have initiated a Phase 2 clinical trial of Translarna™ (ataluren) for children 2 to 5 years old. Details of site locations, etc. are on clinicaltrials.gov. Below is the announcement from PTC.

“We are pleased to inform you that PTC Therapeutics has initiated a Phase 2 clinical trial of Translarna™ (ataluren), an oral, first-in-class, protein restoration therapy for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD), in patients between the ages of two and five (they cannot have turned five to participate). This open-label, multiple-dose study will evaluate the safety and pharmacokinetics (PK) of Translarna in pediatric patients.”

The study includes a 4-week screening period, a 4-week study period and a 48-week extension period for patients who complete the 4-week study period, for a total of 52 weeks of treatment.

For more information about the study and a list of participating study centers, please visit www.clinicaltrials.gov.

Marathon Pharmaceuticals submits deflazacort NDA to treat Duchenne muscular dystrophy

Marathon Pharmaceuticals has submitted a new drug application (NDA) to the US Food and Drug Administration (FDA), seeking approval for its deflazacort investigational drug to treat Duchenne muscular dystrophy (DMD).

Deflazacort is a glucocorticoid with anti-inflammatory and immunosuppressant properties. It has fast track status, orphan drug designation and rare pediatric disease designation for DMD.

Click here to read more.

NICE recommends Duchenne drug Translarna for NHS funding

We are delighted to inform you that NICE has recommended funding on the NHS in England for Translarna – the first ever drug to treat an underlying genetic cause of Duchenne muscular dystrophy.

Translarna would treat boys whose Duchenne is caused by a nonsense mutation, who are aged five years and over and who are still able to walk.Click here to read more.

Translarna not recommended in Scotland

Translarna, the first ever treatment to address the underlying causes of Duchenne muscular dystrophy, has received a negative funding recommendation from the Scottish Medicines Consortium (SMC) on the basis of cost. This is despite the proactivity and efforts of Action Duchenne, families, and other charities to inform SMCs evaluation and ensure that the patient voice remained at the heart of their considerations.Click here to read more.