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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


To receive the next interview in our series “Portrait of Duchenne”, please subscribe to our newsletter.



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:

To receive the next interview in our series “Portrait of Duchenne”, please subscribe to our newsletter.




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

To receive the next interview in our series “Portrait of Duchenne”, please subscribe to our newsletter.



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)



PORTRAIT OF DUCHENNE – Utrophin Modulator

Michelle Avery, PhD

Director, Investor Relations at Summit Therapeutics plc

In this second interview of our series “Portrait of Duchenne”, La Fondation La Force talks with Michelle Avery, the Director of Investor Relations for Summit Therapeutics plc. She also heads patient relations and public relations. Michelle Avery answers our question about utrophin modulators – a potential disease-modifying approach to treat all patients with DMD.

Our journey at La Fondation La Force travels the road of discovery with families, researchers, pharmaceutical companies and more. Our mission is finding the best new experimental treatments and the most promising research for children and adults with Duchenne muscular dystrophy (DMD). In November 2016, we went to the 14th Action Duchenne International Conference in London, UK, to meet with the international DMD community on your behalf.  We hope this series of interviews will bring hope and inspiration to Canadian families.

What is utrophin?

The human body naturally produces utrophin, a protein, when muscle first forms or when it’s repairing. As muscle matures, dystrophin replaces utrophin. However, in people with DMD, dystrophin does not function properly. Utrophin is functionally and structurally similar to dystrophin.

In the video, Michelle Avery answers our questions about utrophin modulators


  • Utrophin modulation is:

R: Utrophin is a protein very similar to dystrophin. Utrophin is present when a muscle is first forming or when it’s repairing. But then, for whatever reason, it’s turned off and dystrophin comes in to take its place. Now, this is still in place in the boys with DMD… They actually have a lot of utrophin being made, as the muscles are repairing, but they also have the signal to turn it off. So what we’re trying to do is keep that utrophin turned on. As the muscles mature, they can have utrophin instead of dystrophin.

  • Where will this treatment be available first?

R: Right now, our development program… we’re considering a global program… Regulatory-wise, the U.S. usually comes along first and more rapidly than other countries, but we actually have a collaboration with Sarepta Therapeutics for Europe… They’re going to do a great job… They’ve had a lot of experience in DMD so far, so we’re really excited to use their expertise and they will be taking over in Europe and potentially in Latin America as well. There are some countries in Latin America where they have that option to sell our drug.

  • Can utrophin replace dystrophin?

R: We believe that utrophin can replace dystrophin, and this is based on a lot of work that we’ve done in mice, where we’ve seen that these mice can look much like “normal”when they have utrophin in the place of dystrophin. Utrophin itself is just a little bit smaller than the dystrophin and it is missing a couple of different bondings… What we know from studies with patients with Becker’s is that if they’re missing the part of dystrophin that is missing in utrophin, these patients seem to do pretty well. So that’s encouraging that you don’t necessarily need all of the parts of dystrophin in order to have a more normal muscle function.

  • How do you see the future for the DMD community?

R: It’s very exciting work. We’re hoping this is, like, the first trial that lets us know whether or not this has a chance to work in patients, and we’re really, really hopeful… It seems like it makes sense from a scientific perspective.


Clinical trial information updated: PhaseOut DMD

PhaseOut DMD is a Phase II clinical trial evaluating ezutromid, an utrophin modulator, in patients with DMD. This 48-week, open-label study is ongoing in the U.K. and USA. The study plans to enrol approximately 40 patients by mid-2017.

In addition to PhaseOut DMD, Summit Therapeutics plc plans to conduct a randomised, placebo-controlled trial specifically designed to support accelerated and conditional approvals for ezutromid in the USA and Europe. If PhaseOut DMD yields positive interim data, planning of this trial would begin after the 24-week data are reported.

For more information about the PhaseOut DMD clinical trial of ezutromid: Utrophin Trials   –  Clinical trials

For more information about utrophin you  can also read our previous article: Utrophin production might be a good option for people with DMD

More about Summit PLC Therapeutics

Summit plc is e a clinical-stage drug discovery and development company advancing innovative therapies to significantly advance the current standard of treatment for serious unmet medical needs. Their strategy focuses on two therapy areas: Duchenne muscular dystrophy, a fatal genetic muscle-wasting disease, and the infectious disease caused by the bacteria C. difficile.


Up next:

Our next portrait: Exon Skipping with Georges Dickson

To receive the next interview in our series “Portrait of Duchenne”, please subscribe to our newsletter.



We thank the Action Duchenne UK team, who received us with open arms and gave us access to all key speakers at their conference. Because of their generosity, we can spread this hopeful information to the Canadian DMD community.


To know more about the Action Duchenne conference:


Special Thanks to Daniel K Cooper and Allain Lagadic

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Utrophin production might be a good option for people with DMD

Utrophin could potentially replace dystrophin. In people with Duchenne muscular dystrophy (DMD), dystrophin does not function properly. Numerous media outlets have recently reported many exciting developments in the search for new treatments for Duchenne muscular dystrophy (DMD). Science, medicine, and technology are uniting to create significant results. This article is the first in a new series to shed light on promising, experimental treatment options. This first article will feature utrophin production.

What is utrophin?

The human body naturally produces utrophin, a protein, when a muscle is first forming or when a muscle is repairingAs 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

What is ezutromid?

Ezutromid is an utrophin modulator.

It is an orally administered, small molecule, experimental drug, in development by Summit Therapeutics.

More information

How does it work?

Ezutromid stimulates the body to sustain production of utrophin.

This experimental therapy has the potential to work in people with all genetic profiles of Duchenne muscular dystrophy (DMD). Given that it doesn’t depend on a specific genetic profile, this treatment may be suitable for 100% of people with DMD.

Clinical Trial

Summit Therapeutics just announced that the first patients have been enrolled into trial sites in the US into PhaseOut DMD. Summit Therapeutics will be making updates about additional US sites and contact details to the clinicaltrials.gov record (https://clinicaltrials.gov/ct2/show/NCT02858362). As a reminder, PhaseOut DMD is a 48-week, open-label (meaning all participants receive ezutromid) Phase 2 trial, is ongoing in the UK and the US. Enrolment of approximately 40 patients continues, and they expect to complete trial enrolment in the second quarter of 2017.

For more information about PhaseOut DMD clinical trial of ezutromid: Utrophin Trials   –  Clinical trials

What’s the regulatory status of ezutromid?

Ezutromid is an experimental drug candidate in Phase 2 clinical trialThe U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) have granted Orphan Drug designation to ezutromid. Orphan drugs receive a number of benefits, including additional regulatory support and a period of market exclusivity after marketing approval. In addition, the FDA has granted ezutromid both Fast Track and Rare Pediatric Disease designations.

Recently, Summit Therapeutics Plc applied to the MHRA and FDA regulatory authorities to proceed with the planned extension of PhaseOut DMD for patients currently enrolled in the trial. The extension phase is expected to last until ezutromid either receives marketing approval in relevant countries or its development is discontinued.

In addition to PhaseOut DMD, they plan to conduct a randomised, placebo-controlled trial designed with the potential to support accelerated and conditional approvals for ezutromid in the US and Europe. It is anticipated that this trial would start after positive interim data from PhaseOut DMD.

Summit to Extend Ongoing PhaseOut DMD Clinical Trial of Ezutromid in Patients with DMD: Press Release 

How is ezutromid administered?

Ezutromid is given orally, as a liquid.

Muscular Dystrophy News

A word from the manufacturer

“The Rare Pediatric Disease designation builds upon the Fast Track and Orphan Drug designations, which the FDA has already awarded to ezutromid, recognizing a significant unmet medical need in the treatment of DMD,” says Glyn Edwards, Chief Executive Officer of Summit.

“We plan to leverage these regulatory advantages in the continued clinical development of ezutromid, which is currently in Phase 2 clinical trial called PhaseOut DMD, to bring ezutromid to patients in need as quickly as possible.”

For more information about ezutromid click here


To learn more about new treatments you can subscribe to our newsletter here



New treatments for Duchenne muscular dystrophy: a stalled process

Initial Duchenne muscular dystrophy diagnoses usually come about around age 4 or 5 years, mostly in young boys. Duchenne muscular dystrophy often referred to as “DMD”, is the most severe form of muscular dystrophy.

It is a degenerative disease that gradually weakens every muscle in the body, and that inevitably leads to premature death when afflicted kids reach their twenties. The corticosteroid-type treatments currently available – used for anti-inflammatory purposes – can prolong certain muscle functions; however, the side effects of these products are devastating in the long run!

A difficult approval process for effective treatments

For the first time in the history of Duchenne muscular dystrophy, innovative treatments that directly address the genetic causes of the disease are currently undergoing the FDA (Food and Drug Administration) approval process in the United States: Ataluren (PTC Therapeutic), Eteplirsen (Sarepta Therapeutics) and Drisapersen (BioMarin).

Ataluren is used in cases where on children happen to have a so-called “nonsense” genetic mutation, while the action of the other two, eteplirsen and drisapersen, has to do with the “exon skipping” principle.

Earlier this year, Sarepta Therapeutics, the pharmaceutical company developing Eteplirsen, was informed that there would be a delay in the process; the most recent news is that the matter is to be re-evaluated by a committee. Less than a month ago, it was PTC Therapeutics’ turn to be told, much to their surprise, that certain elements of information were missing, despite the fact that its drug, Ataluren, had been approved in Europe (May 2014 – read more).

Undue delays for children who have no time to wait

The FDA’s decisions influence those of all other jurisdictions. Failure to get approval for these pioneering treatments could have the effect of discouraging other pharmaceutical companies from developing alternative treatments for Duchenne muscular dystrophy. Worthy of mention is the fact that, although the data is currently deemed insufficient by the authorities, clinical trials have clearly demonstrated the positive effects of these treatments on children, with very few side effects.

These delays sometimes cause pharmaceutical companies to lose significant value in the stock market, which is unfortunate. But even worse are the years of life the kids lose due to a blocked approval process that prevents them get the treatment they need.

In fact, the community has but one choice, and that is to take action… Otherwise, no treatment!

Knowledge before action!

Of course, we do not at present have all the answers: Team La Force’s mission is to develop expertise in the field and broadcast to the Canadian Duchenne Muscular Dystrophy community any relevant information pertaining to access to treatment.

We’ve given ourselves the mandate to inform the DMD community because we believe that disseminating knowledge is a great way to change things. With this in mind, we are announcing with great pleasure that La Force will be attending the FDA-AdComm conference to be held in Washington in late April. Our goal is to acquire as much knowledge as we can about the North American treatment approval processes and keep you informed.

What should you do as a parent of a child afflicted with Duchenne muscular dystrophy?

If your child is suffering from DMD, we suggest you do the following:

  1. In consultation with competent medical personnel, determine your child’s specific genetic condition, find out the exact reason why he/she is afflicted with DMD; it will guide you as to what treatments, existing or in development, are appropriate to his/her situation;
  2. Learn about these treatments and work to get access to them: it’s a good idea to consult with us, because, with time we’ve learned a lot on the subject matter;
  3. Communicate with the people around you and share the information in order to raise awareness about the disease, about the availability of new treatments and about the long and laborious approval processes;
  4. Follow us on the web and on social networks in order to stay abreast of developments and benefit from the support of the DMD community.

Link about New treatments for Duchenne muscular dystrophy


Sarepta Therapeutics

Eteplirsen – The Facts About Eteplirsen – Uptick Analyst – FDA Approval Status – FDA: Please accept Sarepta’s New Drug Application (NDA) for Eteplirsen



Drisapersen – FDA Approval Status (Drisapersen (Kyndrisa) – FDA Decision on Drisapersen for Duchenne Muscular Dystrophy


PTC Therapeutics

Fierce Biotech – PTC: With no evidence of Duchenne MD efficacy, FDA barred regulators’ doors to ataluren

Results from Phase 3 ACT DMD Clinical Trial of Translarna™ (ataluren) – Ataluren at Health Canada – Recommandation pour le remboursement NICE (UK)


FDA Draft Guidance on Duchenne

The Wall Street Journal