Deflazacort over prednisone/prednisolone?

Here’s the latest news from PTC Therapeutics about Deflazacort (EMFLAZA®). A publication of data in Muscle & Nerve comparing the efficacy and safety of deflazacort and prednisone/prednisolone from the placebo arm of the ACT DMD study has been published in Muscle & Nerve. Enjoy reading and thank you for sharing these articles within the DMD community.


The results demonstrated a clinically differentiated benefit of deflazacort over prednisone/prednisolone in slowing disease progression as measured using physical function endpoints and the time to delay loss of ambulation. Duchenne muscular dystrophy patients treated with deflazacort had notably less decline from baseline in 6-minute walk distance at Week 48 than those treated with prednisone/prednisolone.


Stuart W. Peltz, Ph.D. Chief Executive Officer of PTC Therapeutics, Inc. said:


“This publication supports the benefit of deflazacort in slowing the progression of Duchenne compared to other corticosteroids,”

“The data indicates that deflazacort should be the standard of care for all patients with Duchenne. The availability of deflazacort, a treatment that has the potential to alter the natural history of Duchenne, supports the need for early diagnosis in patients with this disease.”


What is Deflazacort

Deflazacort is a corticosteroid that works through receptors in the body to effectively inhibit inflammation.

Clinical studies demonstrated that Emflaza:

  • delayed the loss of muscle strength of Duchenne patients
  • improved the ability to accomplish tasks related to standing, climbing stairs, to run or walk 30 feet
  • Slowed the loss of muscle strength over time

More on Emflaza.com


Access Deflazacort in Canada

In Canada, eligible patients can ask to receive deflazacort through a Special Access Program (SAP). This Health Canada program enables doctors to prescribe a drug not approved for sale or distribution in Canada to patients with a severe or life-threatening disease that has no other viable treatment.  Special Access Programme


About PTC Therapeutics

PTC Therapeutics was one of the first pharmaceutical companies to develop a treatment for Duchenne muscular dystrophy (DMD). Developing ataluren (Translarna™), a treatment that works on a nonsense mutation in the dystrophin gene took 20 years. When PTC started its research, there was no North Star Ambulatory Assessment (NSAA), a mobility test that measures the results of treatment. The company began with a blank sheet. Its hard work and persistence encouraged other pharmaceutical companies to jump in and investigate new therapies for DMD. More at About PTC (vloglaforcedmd.com)



More interesting link

Ptc Therapeutics announces publication data demonstrating he Clinical Differentiated Benefit of Deflazacort: News Releases (ir.ptcbio.com)

Effects of Deflazacort Versus Prednisone on Bone Mass, Body Composition, and Lipid Profile: A Randomized, Double-Blind Study in Kidney Transplant Patients: Effects of Deflazacort Versus Prednisone (academic.oup.com)

A Comparison of the Effects of Deflazacort and Prednisone Versus Placebo on Timed Functional Tests in Boys with Duchenne Muscular Dystrophy: A Comparison of the Effects of Deflazacort (n.neurology.org)


Negative opinion for EXONDYS® in Europe


Here’s the latest news from Sarepta Therapeutics press release about EXONDYS® (eteplirsen). EXONDYS® (eteplirsen) is designed to treat patients with Duchenne muscular dystrophy (DMD) amenable to skipping exon 51 of the dystrophin gene. Enjoy reading and thank you for sharing these articles within the DMD community.


Sarepta receives negative CHMP opinion for EXONDYS® (eteplirsen) in Europe

Sarepta Therapeutics, Inc., announced that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) had adopted a negative opinion for EXONDYS® (eteplirsen).


Request for re-examination

Sarepta will request a re-examination of the opinion, which will result in the assignment of a new rapporteur and co-rapporteur. The company will also request a Scientific Advisory Group (SAG) on DMD to be called so that neuromuscular specialists experienced with working on treatments for these patients can provide expert guidance and insight into, among other things, the validity of the external controls used and the importance of certain functional endpoints, including, for instance, the relevance of meaningful slowing pulmonary decline in patients with this difficult to treat disease. The re-examination process is expected to be completed by year-end 2018.


EXONDYS® a treatment using the exon-skipping technique

This treatment uses a specific exon-skipping technique to jump over a portion of genetic machinery that produces a non-working, mutated form of dystrophin in children with DMD. It aims to restore the machinery’s ability to read genetic code, so it can produce a less mutated form of dystrophin that works in children with DMD.

The production of partly functional dystrophin may delay muscle destruction and extend mobility in children with this devastating, rare disease. More specifically, Exondys 51 (eteplirsen) triggers the skipping of exon 51, which occurs in 13% of children with DMD.


About DMD

Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.


More interesting link:

Please visit: www.sarepta.com

Video Professor Georges Dickson

Press Release


Positive news for Translarna™ (ataluren)


One of the objectives of our team is to inform you about new treatments. Here’s the latest news from PTC Therapeutics press release about Translarna ™ (ataluren). Enjoy reading and thank you for sharing these articles within the DMD community.


CHMP Adopts Positive Opinion for the Expansion of the Translarna ™ (ataluren) Label to Include Patients as Young as 2 Years of Age

PTC Therapeutics, Inc. announced that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) had recommended approval of expanding the indication of Translarna ™ (ataluren) to include ambulatory children aged two to five years with nonsense mutation Duchenne muscular dystrophy (nmDMD). This broadens the use beyond the current indication which is for ambulatory patients who are over five years of age. In addition to the label expansion, the CHMP has also recommended the renewal of the current marketing authorization of Translarna.

“Early diagnosis and treatment has been a paramount part of our strategy and this recommendation perfectly aligns with our vision of giving best-in-class treatment to patients,” said Marcio Souza, the chief operating officer of PTC Therapeutics.

PTC’s focus on early patient identification and market readiness have been intensified in anticipation of the CHMP recommendation and the launch of Translarna for patients as young as two years of age, and it is planned to start immediately at the time of EC ratification.


About  Translarna ™ (ataluren)

Discovered and developed by PTC Therapeutics, Inc., Translarna ™ (ataluren) 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.

read more: https://laforcedmd.com/ataluren-promising-treatment-for-dmd/


About DMD

Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.


Press release:  http://ir.ptcbio.com/news-releases/news-release-details/chmp-adopts-positive-opinion-expansion-translarnatm-ataluren


Recruiting participants here in Canada


Sarepta Therapeutics is recruiting DMD patients that have out-of-frame deletion mutations in dystrophin that may be treated by skipping exon 45 or exon 53 for its ESSENCE study.


Purpose of the ESSENCE Study

Sarepta is recruiting for Duchenne muscular dystrophy (DMD) patients with deletion mutations amenable to exon 45 or exon 53 skipping.

The purpose of this Phase III research study is to evaluate the safety and effectiveness of SRP-4045 and SRP-4053 in boys with DMD, who have a deletion that is potentially responsive or amenable to exon 45 or exon 53 skipping.

ESSENCE is a randomized, placebo-controlled study. Each study participant will be randomly assigned to receive either active study drug (SRP-4045 or SRP-4053, depending on his deletion type) or placebo. Placebo is made to look just like the active study drug, but it will not contain any active substance. Researchers use a placebo to see if the active study drug works and to see how safe and effective it is compared to not taking anything. This trial design is the best way to get a clear answer about the safety and effectiveness of a new drug and is usually required by regulatory authorities in the approval process for a drug.


Who may be able to participate in the ESSENCE study?

  • Boys with DMD, 7 to 13 years old who can walk
  • Boys having a genetic test that shows they have a deletion that may be treated by skipping exon 45 or 53*
  • Boys that have been on a stable dose of corticosteroids (e.g. prednisone or deflazacort) for at least six months
  • Stable lung (breathing) and heart function


Why should I consider participating in this study?

  • Access to an investigational therapy
  • Access to highly experienced clinicians with strong expertise in treating DMD
  • Opportunity to become more familiar with what participation in a clinical study entails
  • Opportunity to help others by contributing to medical research that may accelerate


Two hospitals are participating in this trial in Canada:

Alberta > Alberta Children’s Hospital

Principal Investigator: Jean Mah, MD

Contact: tiffany.haig@albertahealthservices.ca


Ontario > London Health Sciences Centre

Principal Investigator: Craig Campbell, MD

Contact: gina.bhullar@lhsc.on.ca

More trial sites: clinicaltrials.gov


What is Exon Skipping

Mutations in the dystrophin gene are one cause of DMD. Most commonly, one or more exons (a portion of a gene) are missing, and the remaining exons don’t fit together correctly. (Think of a zipper that doesn’t work properly, because teeth are missing.)

Because of this error, cells cannot make the dystrophin protein that muscles need to work properly. Without it, muscle cells become damaged and, over time, are replaced with scar tissue and fat.

To fix the broken genetic machinery, scientists are developing drugs that skip over parts that contain missing or defective exons. In this way, the machinery can produce a less imperfect dystrophin protein, which may improve muscle function in children with exon mutations.

Sarepta investigational therapies in the ESSENCE study use a technique referred to as exon skipping. Skipping a specific exon next to the mutation is intended to allow the body to make a shortened form of the dystrophin protein.


About DMD

Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.

Disclaimer: Choosing to participate in a study is an important personal decision. Before you participate in a study, discuss all options with your health care provider and other trusted advisors.


More about ESSENCE

Brochure: sarepta.com/Brochure.pdf

For more information, contact: trialinfo@sarepta.com Visit www.sarepta.com for updates on Sarepta’s clinical studies

ESSENCE: essencetrial.com

ESSENCE clinical trial information: clinicaltrials.gov  #NCT02500381

, ,

New DMD exon-skipping therapy on the way

Following positive results obtained in Phase I/II trial of SRP-4053 (Golodirsen), Sarepta Therapeutics has announced a plan to submit a new drug application (NDA) for accelerated approval of Golodirsen in patients with Duchenne muscular dystrophy (DMD).

According to results of the clinical study, Golodirsen significantly boosted dystrophin protein production in 25 boys with confirmed deletions of the DMD gene amenable to exon 53 skipping. This mutation affects about 8 percent of all DMD patients.


What is Golodirsen?

Golodirsen uses exon-skipping technology and works by binding to exon 53 of the dystrophin sequence to exclude, or skip, this part of the sequence. This helps produce a smaller but functional form of dystrophin protein.


Positive results

Golodirsen showed potential to treat Duchenne muscular dystrophy (DMD) in a first clinical trial of DMD patients. Press release


Why do we need to skip an exon?

DMD is caused by specific errors (mutations) in the gene that codes for dystrophin. Dystrophin is a protein that plays a crucial role in the function of muscle cells and protects them from damage as muscles contract and relaxes. These mutations in the dystrophin gene lead to a lack of dystrophin protein in muscles. Without enough dystrophin, muscles gradually grow weaker until they can’t move at all, and eventually breathing and heart function are lost.

The condition is universally fatal, and death usually occurs before the age of 30 generally due to respiratory or cardiac failure.


More about Golodirsen

Golodirsen uses Sarepta’s proprietary phosphorodiamidate morpholino oligomer (PMO)* chemistry and exon-skipping technology to skip exon 53 of the DMD gene. Golodirsen is designed to bind to exon 53 of dystrophin pre-mRNA, resulting in exclusion, or “skipping,” of this exon during mRNA processing in patients with genetic mutations that are amenable to exon 53 skipping. Exon skipping is intended to allow for the production of an internally truncated but functional dystrophin protein.

Golodirsen is one of the investigational candidates currently being evaluated in the ESSENCE study, a global, randomized double-blind, placebo-controlled study evaluating efficacy and safety in patients amenable to skipping exons 45 or 53.

*a phosphorodiamidate Morpholino oligomer (PMO), is a type of oligomer molecule (colloquially, an oligo) used in molecular biology to modify gene expression. 


More about clinical trial

 ESSENCE: Phase III Study

Purpose: The main objective of this study is to evaluate the efficacy of SRP-4045 and SRP-4053 compared to placebo in Duchenne muscular dystrophy (DMD) patients with out-of-frame deletion mutations amenable to skipping exon 45 and exon 53 respectively.

Location: United States, Europe, Canada, Israel

For more information, please visit www.clinicaltrials.gov or www.essencetrial.com



Clinical Trials

Muscular Dystrophy News

Investor Relations



Canadian Research osteoprotegerin (OPG)

Meeting with professor Jérôme Frenette about osteoprotegerin (OPG).

We are producing a video series of interviews with Canadian researchers working on DMD. We have met many professors, and our videos will be coming up soon.  We wish to connect you, the DMD community, with the professors. You will be delighted to know their deepest motivation and devotion. They love to know your face; you are the people that will be impacted by their discovery. Also, the video is a very good medium to offer an understanding of scientific concepts which are not always so easy to grasp.


Video series coming up…

We met and interviewed professor Jérôme Frenette of the Rehabilitation Department of Laval University who is currently working on a potential treatment for Duchenne muscular dystrophy. He presented some very promising work with his team at the University Hospital Center of Quebec on osteoprotegerin (OPG).


Interesting information about OPG

• OPG is a protein well known for its protective role against osteoporosis, where its name comes from, osteoprotegerin.
• OPG reduces damage and inflammation.
• OPG eases Duchenne muscular dystrophy, especially in fast-twitch skeletal muscle.
• OPG can simultaneously treat osteoporosis and muscle degeneration in patients with DMD.
• Dystrophic muscles can be protected without correcting the dystrophin gene. The team from the Faculty of Medicine at Laval University in Quebec City has just demonstrated that this protein could be a new avenue of treatment for Duchenne muscular dystrophy (DMD).


Get connected to our Canadian Research Series

An effective way to be informed and to receive our videos right out of the box is to sign up here for our newsletter.


Positive data about utrophin modulator

Today, Summit Therapeutics announced positive 24-week interim data from PhaseOut DMD (Phase 2 clinical trial of the utrophin modulator ezutromid). This data showed a significant reduction in muscle damage and an increase in utrophin in muscle biopsies. The company plans to hold a webinar with the community. Below you’ll find some FAQs and the press release.


What does this data mean?

  • Ezutromid treatment led to a significant reduction in muscle damage and increased production of utrophin in muscle fibres;
  • Utrophin modulation maintains utrophin production in mature muscle fibres, enabling utrophin to replace the need for dystrophin in DMD muscles;
  • Ezutromid has been well tolerated to date in all patients participating in PhaseOut DMD;


Will there be another clinical trial? When will it start/where will it take place?

  • Summit Therapeutics expects to conduct another clinical trial aimed at getting regulatory approval for ezutromid to be marketed in the US and Europe;
  • Summit Therapeutics is actively planning the next trial and expects to provide a timeline for the start of that trial once they have the 48-week data;
  • It is expected to be a global trial, and the participating countries and sites will be announced closer to the initiation of the trial;


When will ezutromid be available on the market?

  • Summit Therapeutics is awaiting the 48-week data from PhaseOut DMD before finalizing their plans for the next trial:


What is exactly utrophin?

You can watch our interview with Michelle Avery, the Director of Investor Relations for Summit Therapeutics, to know more about it:




What is utrophin?

The human body naturally produces utrophin, a protein, when a muscle is first forming or when a muscle is repairing. As a muscle matures, dystrophin replaces utrophin. However, in people with Duchenne muscular dystrophy (DMD), dystrophin does not function properly.

Utrophin is functionally and structurally similar to dystrophin. Preclinical trials that have stimulated sustained utrophin production have shown that it could potentially replace dystrophin in people with Duchenne muscular dystrophy (DMD). The replacement of dysfunctional dystrophin with functional utrophin might have a highly positive impact on muscle performance.

Summit Therapeutics believes that utrophin may slow or even stop the progression of DMD.

More information: PPMD  –  Wikipedia  – NCBI


At this moment the only way to access the treatment is in the clinical trials.

About PhaseOut DMD Clinical trials: http://www.utrophintrials.com

Link to press release: http://otp.investis.com/clients/uk/summit_corporation_plc/rns/regulatory-story.aspx?cid=1575&newsid=970514

More info on our previous blog post: https://laforcedmd.com/utrophin/



Steve J. Winder, PhD

Professor of Molecular Cell Biology, Director of Postgraduate Teaching, Director of External Relations, Department of Biomedical Science, The University of Sheffield, United Kingdom

In this sixth interview of our series “Portrait of Duchenne”, La Fondation La Force talks with Steve Winder, Professor of Molecular Cell Biology, Director of Postgraduate Teaching, Director of External Relations, Department of Biomedical Science, The University of Sheffield, United Kingdom. He has been working on aspects of Duchenne muscular dystrophy (DMD) for more than 20 years. He has worked on this project for the last 3 or 4 years.


Why repurpose existing drugs for DMD?

Developing a brand-new drug takes an enormous amount of time, money and effort. Delays and barriers mean that translation of a promising molecule into an approved drug often takes more than 14 years. It is crucial to advance strategies to reduce this time frame, decrease costs and improve success rates. Drug repurposing or re-positioning is one such strategy. This is what Steve Winder and his team of researchers are exploring; in this case, cancer drugs that affect muscle and which may be useful in the treatment of DMD.


In the video, Professor Steve Winder answers our questions about repurposing existing drugs for DMD


  • Can you explain the process of drug repurposing?

Ok, so repurposing is taking a drug that’s already been approved for clinical use in one disease and working out whether it’s suitable and effective to use in another disease. A good example would be something like aspirin, which you take for headaches because it’s a painkiller, but these days a lot of people also take the aspirin to prevent heart attacks, because it thins the blood. So, the drug has a primary effect, but it also has what I would call a side effect. And sometimes these side effects can be really useful. So, this is what we are trying to do with a series of drugs that might be useful in treating Duchenne muscular dystrophy. So, in this case, it’s cancer drugs, but they have other effects in the muscle, which may be useful for the treatment of Duchenne muscular dystrophy.


  • What drugs are you repurposing in your current research?

So, these drugs that we’re working with are a group of anti-cancer drugs that are mostly used to treat chronic myeloid leukemias, which are genetically based leukemias that occur reasonably common. And, the advantage of these drugs is, because the disease, as its name says, is chronic myeloid leukemia, the disease is long-lasting, so the drugs are given for long periods of time, So, they’ve been designed to be well-tolerated or the ones that are in clinical use are well-tolerated and can be given for, you know, 10s of, well, there are examples, certainly, of people being given these drugs for 10s of years. So, from that point of view, if you were going to treat a boy with DMD, it would probably be a life-long treatment, so they need to be well-tolerated, low side effects, and so on. So, these drugs would be particularly suited to that.


  • What effect could this approach have for DMD?

So, these drugs are inhibitors of signaling processes in the muscle that are altered when dystrophin is absent. The drug is not going to reverse the disease. If it were to work 100%, it would stop the disease from getting any worse. That’s the best it could do. But if you started treatment early, then obviously, you would preserve most of the muscles for the boys. And they act on inhibiting signaling pathways that are turned on aberrantly in the muscular dystrophy process. So it’s targeting things directly in the muscle that are altered as a consequence of the loss of dystrophin in the muscle tissue.


  • How long before this type of treatment is available?

We need to satisfy ourselves in the preclinical stages. So this is working with animal models of the disease, such as the MDX mice that have a mutation in the dystrophin gene, the same as boys with Duchenne muscular dystrophy. But the drugs that we’re testing (must) work as we expect them to work and actually have some benefit in the mouse before we then have the confidence to actually go forward and use them in boys with Duchenne muscular dystrophy in a proper clinical trial.


  • How do you envision the future for people with DMD?

In the last 5 years, even in the last 2 years, there’s just been an explosion of new potential treatments for Duchenne: some of which people have been working on for a very long time and others which have really just almost come out of nowhere. So, I think, in terms of potential treatments for Duchenne, they, I think, are looking really, really, really positive. I mean, when I originally started work on this, the prospects for treatment seemed completely bleak and no hope 20 years ago, but now, there’s all sorts of things, different approaches. I am confident, in the next few years, we’ll see real benefits to lots of boys with Duchenne.



Interesting links

About The University of Sheffield

About drug repurposing for DMD


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We thank Action Duchenne, who received us with open arms to conduct a series of interviews.

More information about next event: conference 2017





Joanne M. Donovan, MD, PhD

Chief Medical Officer at Catabasis Pharmaceuticals, Cambridge, Massachusetts, USA

In this fifth interview of our series “Portrait of Duchenne”, La Fondation La Force talks with Joanne Donovan, Chief Medical Officer at Catabasis Pharmaceuticals. She has been working on a treatment for DMD called edasalonexent (formerly known as CAT-1004). She earned her MD at Harvard Medical School.


Understanding how edasalonexent works

Edasalonexent (CAT-1004) is an investigational oral drug that targets NF-ĸappa B (NF-ĸB). What is NF-κB and how does its inhibition benefit patients with Duchenne muscular dystrophy (DMD)? NF-kB is a protein complex that controls transcription of DNA. In people with DMD, the absence of dystrophin, combined with mechanical stress in muscle, leads to an activation of NF-ĸB. When activated, NF-ĸB transcribes proteins that drive muscle damage and prevent muscle regeneration. Ultimately, the mission of edasalonexent is to prevent NF-kB from being activated. Inhibiting NF-kB can potentially protect muscles and have an important disease-modifying effect in DMD. This treatment works in patients with any mutation for DMD.


Updated information about clinical trials

Parts A and B of the MoveDMD trial with edasalonexent (CAT-1004) in DMD are complete. Part A reported that edasalonexent was well-tolerated with no major safety issues. Catabasis has reported that, in Part B, with 12 weeks of edasalonexent treatment, numerical improvements were observed in well-established and pre-specified functional assessments. These numerical improvements in the functional assessments demonstrated reductions in the rate of functional decline in both placebo-controlled and crossover analyses. The crossover analysis compared changes during an off-treatment period to edasalonexent treatment for boys who were also in Phase 1 of the trial. The primary endpoint in the 12-week Phase 2, which was an exploratory MRI biomarker endpoint, was not met. Edasalonexent was well-tolerated with no safety signals observed. Edasalonexent is currently in the open-label extension of the MoveDMD trial with results expected in Q3 2017. Catabasis anticipates announcing plans for a Phase 3 trial in the second half of 2017.



This video was recorded in November 2016, Dr. Joanne Donovan answers our questions about edasalonexent (CAT-1004)


What is edasalonexent (CAT-1004)?

Yes, so we have been working on edasalonexent, which is an NF-kB inhibitor. And the reason that we are targeting NF-kB for Duchenne muscular dystrophy is that that protein is central to the progression of the disease. In infants, NF-kB is active in the muscle, so we know it happens very early before there is progression, and while every boy lacks dystrophin in all of their muscles, we know that the muscles that are subjected to more mechanical stress have faster disease progression. So, we also know that NF-kB is actually activated by mechanical stress in muscles. So, if we can protect, if we can inhibit NF-kB, we can potentially protect the muscles and have a very important disease-modifying effect.


How do we take it?

It is an oral medicine, and the boys take it as small gel capsules. And even the boys who are aged 4 to 7 in the study have been able to take the capsules.


About clinical trials

This is an initial phase 2 study, and it’s to understand whether the drug has an effect in muscles. And it’s a small study: it’s 31 boys and we have done this at five sites in the United States. What, with the results of that study, we are then looking to plan studies – a larger phase 3 study, which is a global study, again in 4 to 7-year-old boys that are not yet on steroids, and we are also potentially looking to start a study next year in non-ambulatory patients that are no longer on steroids. We know that there are a significant number of young men who are no longer on steroids after they become non-ambulatory. So, we’re looking at those two patient groups and we anticipate that we will start those studies next year, in 2018.


About the connection with the DMD community

I have now met many boys, many many parents, and it makes an enormous difference. At Catabasis, we have been fortunate to have several parents come in – we’re a small company – and come in and talk to the whole company. And it’s incredibly meaningful for the company. It gives us very much an understanding of the urgency of why we need to move things forward as fast as we can. So, we appreciate the opportunity always to talk to you as parents and to meet patients, because it does drive us, which is important.


Interesting links

About Catabasis Pharmaceuticals

Up-to-date information about clinical trials

About NF-kb


Up next:

Our next portrait:

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We thank Action Duchenne, who received us with open arms to conduct a series of interviews.

Special Thanks to Daniel K Cooper and Allain Lagadic



Ellen Welch, PhD

Group leader biology at PTC Therapeutics, South Plainfield, New Jersey, USA


In this fourth interview of our series “Portrait of Duchenne”, La Fondation La Force talks with Ellen Welch, Ph.D., Group leader biology at PTC Therapeutics. She has been working on a treatment for DMD called ataluren (Translarna™). She earned her Ph.D. at the University of Massachusetts Medical School, where she worked on nonsense mutations and how they affect gene expression.


Already approved and reimbursed in Europe

Ataluren is a treatment for Duchenne muscular dystrophy (DMD) that has been approved for use in Europe and even reimbursed in the UK. It is currently under the FDA review for marketing approval in the USA. Unfortunately, PTC Therapeutics has not filed an application to market ataluren in Canada. We met the PTC Therapeutics team to gather information to understand how exactly this treatment works. New clinical trials are opening for children with DMD. We hope this treatment will be available soon for the Canadian DMD community.


A treatment for nonsense mutation

Ataluren is the first treatment to address an underlying cause of DMD: a nonsense mutation. The nonsense mutation occurs about 13% of the DMD population. As you probably know, DMD is a rare, progressive genetic disorder. Children born with DMD do not produce enough dystrophin, an important structural component of muscle, causing muscle cells to break down and die. Some cases of DMD are caused by nonsense mutations, which are errors in the genetic code that prematurely stop the production of dystrophin.

Our goal, with this interview, is to help you understand key information about the nonsense mutation and how the treatment works.


In the video, Dr. Ellen Welch answers our questions about nonsense mutation and ataluren


What is a nonsense mutation?

So I think what you first have to understand is that all the genetic information in the cells is encoded in DNA. You make a copy of DNA into RNA (ribonucleic acid) and then RNA is the template that the cell uses in order to make a protein. So when you have a nonsense mutation in a gene – so if you took the DMD gene, for instance, and you get a point mutation in DMD – when that DNA is copied into RNA, that point mutation can now be part of the RNA that becomes what’s called a premature stop codon. So this is what Anakin has: he has a premature stop. So what does that mean? It means when the cell uses this piece of RNA to make a protein, that it cannot make a full-length protein because it has this premature stop signal. It’s got a signal in the cell that says stop making the protein. And that signal is in the wrong place.


How does ataluren help the production of dystrophin?

And what dystrophin does is it links the membrane of the muscle to the inside of the cell – acts as like a shock absorber – so when you walk, your muscle cells don’t break open. So when you only have one part of dystrophin, it can’t make that link. So if you can read through the premature stop, now you can trick, what ataluren does, it tricks the cell and says don’t stop there, keep going. And then you can make the full-length protein, so now you can link the inside and the outside of the cell together, and that helps to stabilize the muscle. So what we know from what ataluren does is, when you translate – encounter the premature stop codon – the cell machinery is able to insert another amino acid, one of the building blocks for a protein, there. So when it inserts that building block, then it can go on and make the rest of the protein normally. You just have to get through that one hurdle, but that hurdle is a component of the cellular machinery that’s very highly regulated. Because it’s important for the cell, when it really comes to the normal stop signal, to stop. Otherwise, you’ll make these weird proteins and the cell could be very toxic. So, you have to overcome this sort of desire of the cell to stop there. So, ataluren does overcome that. It doesn’t restore it to a wild-type level, but we think it restores it enough to stabilize the disease, and that’s what we’ve shown in our clinical trials to date. So, it just tricks the cell a little bit to make a full-length protein.


How do you envision the future for people with DMD?

I think it’s very optimistic. I think that there are a lot of companies who are making drugs for DMD now. I think there’s ataluren for the read-through population. I think there’s exon skipping that’s coming. Other people are working on things that, other proteins that you can up-regulate to replace dystrophin like utrophin. They’re doing that. So, I think there’s a lot of, there’s a nucleus of people that are basically working from many different directions to identify treatments for DMD. So, I think it’s pretty optimistic, even for kids now. I think it will just get better. But I think I’m fairly optimistic.


Actions to help access to ataluren in Canada

There are a couple of things that you can do right now to help us promote access to ataluren in Canada. Here are three actions that you take right now that will help the DMD community:

1- Be aware of your genetic profile. If you don’t have it, ask your doctor.

2- Get in touch with us. E-mail us, follow-us. We’ll be documenting government approval processes

3- Spread the word. Share our content, share pertinent information, and tell your stories.


Up next:

Our next portrait: Joanne Donovan, Chief Medical Officer and Senior Vice President, Clinical Development, Catabasis Pharmaceuticals

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We thank the PTC Therapeutics team, who received us with open arms to conduct a series of interviews.

We thank Allain Lagadic and Daniel Cooper


PTC Therapeutics

Ataluren (Translarna™)

ACT DMD Clinical Trial of Translarna™ (ataluren)