February is the Rare Disease Month

February is the Rare Disease Month. Because it manifests itself only rarely, Duchenne muscular dystrophy (DMD) falls within the rare diseases category. It is also a treatment orphan disease.

Since this is February, it is pertinent for us to tell you about it. 


A few distinctions …

  • A rare disease is defined as a disease that affects less than 1 in 2000 (DMD affects 1 in 3500, which makes it a rare disease).
  • The RQMO estimates that, in Québec, nearly one in 20 is afflicted by or carrier of a rare disease, for a total of nearly 500,000 Quebecers. Many rare diseases are chronic, progressive and fatal. The CORD estimates approximately, 3 million Canadians and their families face a debilitating disease that severely impacts their lives.
  • Nearly 75% of these diseases affect children, and about 80% of them are genetic.
  • The term “orphan disease” is often confused with the term “rare disease” because the vast majority of rare diseases are orphans in many ways.
  • A medical condition is referred to as an orphan disease if there is no treatment for the disease other than treating the symptoms, as is the case for DMD: for example, prednisone is a medication that has an effect on the symptoms but not on the cause of the disease.


The rarity of these diseases creates obstacles and needs for afflicted people both in our health system and in society in general.

The Quebec Coalition for Orphan Diseases (RQMO) works to provide information and support to patients, their families, and healthcare professionals. Their website is full of relevant information both for professionals and caregivers. Being rare, these diseases are often of little interest to researchers and organizations who fund research. The RQMO aims to advance knowledge about the various rare and orphan diseases by promoting exchanges between patients and researchers.

The Canadian Organization for Rare Disorders (CORD) is Canada’s national network for organizations representing all those with rare disorders. CORD provides a strong collective voice to advocate for health policy and a healthcare system that works for those with rare disorders. CORD works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment, and services for all rare disorders in Canada.

February 28Th is the Rare Disease Day to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

We wish to emphasize that the information contained in this article come mainly from the RQMO website and the CORD website.

We thank them.


Rare disease day

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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 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 the 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/


  • 2018 > Summit Therapeutics ends the development of ezutromid therapy for DMD after trial failure. Read more here.