AdCom for Translarna (ataluren) by the FDA

Advisory Committee (AdCom) for Translarna (ataluren) by the FDA

On September 28, the US Food and Drug Administration (FDA) will hold an AdCom meeting for PTC Therapeutics Translarna (ataluren). This committee allows stakeholders to present additional data on treatment. It is important to ensure an in-depth analysis because Translarna (ataluren) acts on a small population of patients with DMD. It is effective on nonsense mutations, accounting for 13% of people with the disease.

An important event for the DMD community

This is an important opportunity for the DMD community to demonstrate its support for the cause. La Force will table a written testimonial of the effects of the drug on a number of Canadian patients being treated with Translarna (ataluren). Our team is participating in this advisory committee to support access to this treatment because approval for new drugs in Canada are closely linked to decisions made in the United States.

What is an FDA Advisory Committee?

FDA Advisory Committees present recommendations from independent experts on a range of complex scientific, technical and policy issues.

Within the framework of this specific committee, testimonials from patients benefiting from treatment will be presented, as well as those of patient associations, foundations, and independent specialists. This opportunity offered by the FDA allows for the evaluation of data added to those usually observed. In the case of a rare disease such as DMD, it is necessary to evaluate in depth, as only a small population of patients is concerned.

Prior to any advisory committee meeting, it is possible to present a verbal or written request indicating that you wish to intervene at the meeting. In general, advisory committees consist of a chair, several members, consumers, industry stakeholders, and sometimes, patient groups. Other specialists with knowledge in specific areas may be invited to individual committee meetings, as required. Finally, the committees present their recommendations to the agency, and the final decisions are made by the FDA.

Our team will be on-site on September 28 to share the results of this day with you live. Stand by and join our community for fresh news about this advisory committee.

Interesting links:

February is Rare Disease Month

Did you know that February is Rare Disease Month?

February is Rare Disease Month

DMD is also a Zebra

Because it manifests itself only rarely, Duchenne muscular dystrophy (DMD) falls within the rare diseases category. It is also a treatment orphan learn more about DMD.

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

The zebra has been used as a symbol for rare diseases since about 1940. This comes from a quote by Dr. Theodore Woodward: “When you hear the sound of hooves behind you, do not expect to see a zebra.” This is the metaphor Dr. Woodward used to teach students basic concepts about the diagnosis of disease: when examining a patient’s symptoms, it’s better to think of a horse rather than a zebra. It’s a fact that horses are hoofed animals more commonly encountered than zebras, so you should automatically assume that if you hear the sound of hooves, it should be a horse, not a zebra, right?

Conversely, if we can’t confirm a common disease, it may be because it is a zebra, and continue the research among the approximately 7,000 known rare diseases. This inevitably results in very long diagnosis delays, along with a lot of consequences this entails.

A few distinctions

A rare disease is defined as a disease that affects less than 1 in 2000 (DMD affects 1 in 3500-5000, 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 almost 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.

A few examples of rare diseases: cystic fibrosis, Duchenne muscular dystrophy, Huntington’s disease, autoimmune myasthenia and Angelman Syndrome.

The term “orphan disease” is often confused with the word “rare disease” because the vast majority of rare diseases are orphans in many ways.

There are approximately 350 orphan drugs for about 7000 rare diseases.

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 affects 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 loud 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 patient’s 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.

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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

 

 

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Disability doesn’t stop Shaan from driving!

You CAN drive with Duchenne Muscular Dystrophy (DMD)!

Being able to drive is a dream that means a lot to any teenager. Shaan Lail is living that dream. Even though he has Duchenne Muscular Dystrophy (DMD), Shaan will soon be driving his own modified SUV. Shaan is the first Canadian to drive with a state-of-the-art Swiss electronic driving system called Joysteer. This new technology has given more independence to people with disabilities.

Since Shaan was little, he’s always been really into cars, so being able to drive his own vehicle is a real dream come true for him.

“I didn’t wanted DMD to steal away the pleasure of driving,” his mother told me right away. “You see, this disease takes so much away from these boys and young men. Ever since he was very small, Shan’s always talked about cars, cars, cars and more cars…  I wanted to do everything in my power to make sure this dream wasn’t one of the things he was robbed of.

Shaan is doing great in his life. At 19 years old, he’s a student at the University of British Columbia (UBC). His long-term professional dream is to become a lawyer.If you’re familiar with DMD, you know that it is a degenerative and progressive life-limiting disease that relentlessly steals away muscle strength. But, somehow, Shaan is defying DMD.

Behind every child with  Duchenne Muscular Dystrophy (DMD), there is always a strong parent.

I asked Shaan’s mother, Vee, how she manages to keep her son motivated to pursue his dreams. What she said really touched me.

“Ever since Shaan was small whenever he was upset about something he couldn’t do, I tried to teach him to always focus on his abilities rather than his disabilities.  I used to demonstrate by write the word DISABILITY and draw a big X over the letters DIS to reveal the word ABILITY,” Vee told me. I believe and I taught Shaan that one cannot control what life throws at you – you just have to do the best you can.”

Even with all of Shaan’s positive energy, Vee tells me that life with DMD is never easy. It takes a lot of energy to get around campus and keep up with his courses.  But driving a car is a great milestone for Shaan.  How accessible is the state-of-the-art Swiss electronic driving system?

How accessible is the state-of-the-art Swiss electronic driving system?

Unfortunately, right now, it’s expensive. Vehicle conversion or new vehicles start at $40,000, and used vans may cost about $15,000 or more. The driving system is another at least $70,000 more.  Even though the technology is pricey, at least the possibility is there. Hopefully, prices will drop as more and more people with disabilities outfit their cars. And, families can always try crowdfunding as an option.

Congratulations to Shaan’s family for getting this technology to Canada!   It’s very encouraging for the DMD community.

 

Watch this video for more information.

More about Joysteer here.

Send us your inspirational story here.

An unprecedented decision by the FDA

The FDA has just announced an unprecedented decision…

The children with Duchenne muscular dystrophy were heard because it’s “yes” to Eteplirsen!

Eteplirsen was approved! This is absolutely fantastic news, but more importantly, it is a path opening up for other treatments being developed in the fight against Duchenne muscular dystrophy (DMD). Note however that this drug is not a cure and that it only works on the 13% of DMD patients who have the specific mutation.

“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.” (FDA Press Release)

About eteplirsen

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. Its aim is 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 a partly functional dystrophin may delay muscle destruction and extend mobility in children with this devastating, rare disease. More specifically, eteplirsen triggers the skipping of exon 51, which occurs in 13% of children with DMD.

About Duchenne muscular dystrophy (DMD)

Duchenne muscular dystrophy (DMD) – A degenerative disease of the muscles for which there is no treatment
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.

Parents and children across Canada: Join the Force…

Our goal is to make Eteplirsen available in Canada as soon as possible!

To subscribe to our newsletter, please step this way.

You can also read these interesting article

Stat

Sarepta Therapeutics

FDA

The Street

Our blog post La Force  (avril 2016) Part 1  Part 2

Hope for Duchenne muscular dystrophy

Today, September 7th is an international “Duchenne Awareness Day.” We took this opportunity to launch our video. It aims to inform the public about Duchenne muscular dystrophy and new experimental treatments.

Telling as many people as possible about DMD is the first step towards a cure. 

DMD is a degenerative disease of the muscles. It affects children at a very young age (mostly boys). Causing a weakening of every muscle in the body, it leads to loss of mobility, heart problems, respiratory failure and premature death of those afflicted in their early twenties. There is currently no cure.

Hope for new treatments!

For the first time in the history of DMD, treatments that address the causes of the disease are emerging. Some tackle specific genetic mutations. In the case of Ataluren, a treatment presently available in Europe, it targets the so-called “nonsense” mutation. If you have DMD or a loved one is suffering from DMD, it is essential to get a genetic profile.

We need your help to find new treatments for all children afflicted with DMD.

It is through public awareness that, together, we will get closer to a cure. At La Force DMD, we work tirelessly to unite the DMD community to raise awareness around a common objective: providing access to new treatments as fast as possible and participate in the funding of new research projects.

Together, our voices are heard further!

We firmly believe that there is Strength in Unity.

We believe that, together, we can be part of the solution and contribute significantly to finding treatments for all children with DMD.

Help us!

Share this video and Donate here.

 

DUCHENNE MUSCULAR DYSTROPHY (DMD)

A degenerative disease of the muscles for which there is no treatment

Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,500. Duchenne muscular dystrophy (DMD) will rarely 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.

The cause of  Duchenne Muscular Dystrophy (DMD): A genetic mutation

The simplest way to explain the disorder is that a genetic mutation (i.e., a genetic defect) affects the gene responsible for the production of dystrophin. This genetic defect prevents the gene from synthesizing dystrophin.

The consequence of Duchenne Muscular Dystrophy (DMD): Dystrophin deficiency

Dystrophin plays an essential role in maintaining the integrity of muscle cells. Because of the genetic mutation they harbour, people who have Duchenne muscular dystrophy (DMD) lack dystrophin in their system. In the absence of dystrophin, muscles degenerate and become atrophied.

The effects of Duchenne Muscular Dystrophy (DMD): Gradual loss of the ability to use one’s muscles

The disorder causes muscles to degenerate and atrophy: one by one, all muscles in the body gradually fall prey to the disease. The fate of our child, Anakin, will be a gradual loss of his ability to walk. Around the age of 10, playing baseball, running and walking will be only memories for him, and he’ll be confined to a wheelchair. Throughout this time, he will be aware of this degradation process.

A few years later, during preadolescence, even the ability to take a deep breath may be a thing of the past since the disease ultimately causes respiratory failure. Of course, DMD does not spare the heart (also a muscle) either… Without treatment, the normal evolution of the disease inevitably brings about premature death between the ages of 18 and 25, sometimes earlier. For families, there is no worse sentence than to watch their child suffer helplessly…

The DMD community meets the FDA – Part – 2

The DMD community meets the FDA at the AdCom conference. Testimonial, part 2.

Indeed, it was tough for me to attend the AdCom Conference. Throughout the day, monuments of data were built and destroyed, all expertly worded and cleverly illustrated with all kinds of graphs and charts. We certainly got our fill of graphs and charts …

And when you listen for two long hours to the list of problems your child is currently facing, or that he will be facing sooner or later before dying, it’s just horrible.

It’s quite an experience to witness some 51 testimonials and see the power that emanates from these people: children standing up (no small feat when it comes DMD), children begging to be understood by a group of adults who listen while pushing pencils in front of a crowded room of people holding back their tears. People in authority who will be making decisions on their future.

Here are some of the criteria the FDA uses to measure the effectiveness of treatment:

  • The 6-minute walk test;
  • The time children take to get up from the ground;
  • The age at which children lose the ability to walk;
  • Dystrophin production rate;

Here’s what they do not take into account:

  • The ability to walk (even if it is less than 6 minutes)
  • The ability to get up by one’s means (regardless of time)
  • Upper body mobility;
  • And the autonomy that children manage to maintain daily.

Austin Leclaire, 15 years old, went up to show us a video in which, after 62 weeks of treatment, he was able to lift his arms above his head, and which shows that he has gotten stronger instead of declining. What does this mean to a person with Duchenne muscular dystrophy? “What does that mean for me?” asks Austin. “It means independence; it means that I can feed myself … ” Read more

They came and went one after the other and were unanimous, including young people who have four years of treatment behind them: they get stronger instead of declining.

It’s truly surreal to have to watch such a dehumanizing spectacle. Again, data tyranny will win over those 51 people who were living proof of the treatment’s success. A reality that is hard to fathom.

Towards the end of the meeting, I had to get out to clear my head because I couldn’t make sense out of such a decision (not final, but still). So I headed to the lobby, and I waited for it to end. What I saw got even more upset: sad and bewildered mothers and fathers discouraged to learn that the committee would not make a recommendation to the FDA for approval of a drug that is helping to save their children.

The worst was having to see young children who had shared testimonials come out of the conference in tears. Just imagine the grief and frustration experienced by these children. The adult world, the decision-makers, people who represent society had now abandoned them.

This great community, which seems animated by a supernatural force and must still plead for access to treatments and technologies that it has often helped to fund through numerous projects over the past 20 years, this community is once again facing a wall.

I think we have no choice but to move forward TOGETHER and pool our efforts to make sure that the kids get the treatment they need: let’s remember that no one is safe from RARE DISEASES…

Read more

Forbes Market  –  Change.org (petition)  –  Boston Business Journal   –  CBS News

Boston Globe  –   Austin Leclaire  –  PPMD  –   FDA AD-COMM  –  Health Canada PAS

The Jett Foundation   –   PPMD  –  Duchenne AllianceNew treatments for DMD a stalled process

The Duchenne muscular dystrophy community meets the FDA – Part-1

On April 25, two representatives from the Force traveled to Washington, DC, to attend the AdCom Conference of the Food & Drug Administration (FDA), which focused on the approval of new treatments for DMD.

The following is what they wanted to communicate to the DMD community on their return to the US capital.

 “FDA, please don’t let me die early …”

This was the amazing conclusion of the advocacy speech by Billy Ellsworth, 15, who stood – in every sense of the term – in front of the United States Food & Drug Administration (FDA) members who were present the event. At 15, he is still able to stand on two legs, which quite unusual given the course Duchenne muscular dystrophy (DMD) normally takes: this is because, for several years, Billy has benefited from Eteplirsen treatments.

Out of the corner of my eye, I gaze at Marie-Catherine, my friend, and partner in La Force Foundation, and I wonder how she manages to hold out, listening to all those testimonials presented by children currently living with more advanced stages of dystrophy muscular dystrophy. Last year, we managed to obtain special access to another treatment, Ataluren (Translarna) for her son Anakin; efforts have also benefited four other families in Canada; but now, just as with Eteplirsen, this medication is under threat of not being approved and may be lost, despite having shown immediate results (after 3 months) in Anakin’s case.

At the big Monday conference, it was as if the Eteplirsen treatment was being brought before the “FDA court”. In the morning, Sarepta, the pharmaceutical company, was first filed its evidence, followed by the FDA, which made its argument using graphics and PowerPoint presentations galore; this was followed in the afternoon by 51 testimonies on the treatment of children, families, and researchers, who made their case in front of the committee that will subsequently be making recommendations to the FDA. The FDA will then debate the matter and decide whether or not to approve the treatment.

DOMINO EFFECT

In the world of rare diseases, it’s virtually impossible to have access to the same kind of data as for diseases with a larger pool of patients. In the case of DMD, each child develops the disease at his own pace and each case is unique, so it’s very difficult to measure the impact of treatment on a small group of patients. Each treatment in development can only apply to approximately 13% of a given population (in the United States, for example, this represents 15 000 afflicted children). When it comes to rare diseases, approval standards must be more flexible and progressive, otherwise, it’s virtually impossible to develop a treatment and hope to get approval. Some scientists believe that a combination of treatments could well constitute a cure, but if no treatment is approved, it will discourage other biotechnology companies from developing other treatments, since these two can only handle one mutation and are bound to meet the same type of obstacle.

You may be asking yourself what are the consequences of a positive or negative decision by the FDA for Canadians? You won’t be surprised to hear that, historically, Health Canada’s decisions have been influenced by those of our neighbors to the South.

During the 11-hour conference, I often watched my friend Marie-Catherine with an anxious eye, knowing that it’s extremely difficult for her to hear these testimonials and having to face a reality which is not yet hers since her son is only 8 years old.

I look at all these people around the room – many of which are directing a foundation in addition to caring for their child (or children: some have three!…) –, and all I see is courage. Some of them, like Pat Furlong, founder of PPMD, is part of the first generation – their children died of Duchenne muscular dystrophy – but they continue the fight.

Personally, I can tell you that this long day forever changed my perception of life’s problems. I feel sad for these parents, but I know will never really understand the pain they endure every day.

 

Read more

Forbes Market  –  Change.org (petition)  –  Boston Business Journal   –  CBS News

Boston Globe  –   Austin Leclaire  –  PPMD  –   FDA AD-COMM  –  Health Canada PAS

The Jett Foundation   –   PPMD  –  Duchenne Alliance

Joining Forces To Finance a Promising Research Project on OPG

La Force is proud to announce its participation in the funding of a promising research project on osteoprotegerin, also known as “OPG”.

Invited to Boston by the Duchenne Alliance specialists (Duchenne Alliance is an international grouping of 40 foundations), Professor Jérôme Frenette, of the Laval University Rehabilitation Department, recently presented promising work he is doing with his team, based at the Centre Hospitalier Universitaire de Québec on osteoprotegerin (OPG).

La Force Foundation joined four other foundations, including Ryan’s Quest (USA), Michael’s Cause (USA), Pietro’s Fight (USA), and Save Our Sons(AUS) to help co-fund the start-up phase of this drug development project. Together, our foundations work to identify and support the most promising biomedical research around the world.

What exactly is osteoprotegerin?

OPG is a protein well known for its protective role against osteoporosis, hence its name, osteoprotegerin.

Based in Québec City, the Laval University Faculty of Medicine team recently demonstrated that this protein could well represent a new avenue of treatment for Duchenne muscular dystrophy (DMD).

It had been observed in the past that there was a link between bone metabolism and that of muscles. For example, muscle atrophy and bone resorption occur in synchronicity in astronauts, as well as people who are bedridden or afflicted with Duchenne muscular dystrophy. No doubt that muscle contractions are important for maintaining bone quality, but the new findings lead researchers to believe that these two physically related tissues could well be controlled in part by the OPG.

The Laval University team was able to demonstrate that daily injections of OPG for a ten-day period had a more than beneficial effect, increasing the strength of contractions by 60 to 230% and significantly reducing structural damage and inflammation in dystrophic mice. The results are all the more encouraging that they do bring about real hopes for Duchenne muscular dystrophy.

“If we get the cooperation of a pharmaceutical company, we could move quickly to clinical studies of patients with muscle diseases. “

Dr. Jérôme Frenette

Science is hope!

If there is one thing that it is important to keep in mind and that underscores everything we do at La Force, it’s that hope lies first and foremost in science, that is, in the new treatments currently being developed and the ones to come in the foreseeable future.

Since all your donations are used, in one way or another, to promote or accelerate research and access to drugs, they definitely do contribute to bringing children with Duchenne muscular dystrophy ever closer to a cure.

Professor Frenette and his team were able to demonstrate the validity of their initial assumptions and of the promising research paths they want to take in the short term. This is why we are more than proud to support them. The fact that this research project has its foundations here in Québec, is an additional element of pride for us.

So, as an initial contribution to this project, La Force presented a cheque for $ 5,000 to Laval University, linking its donation to the OPG research project.

See full Le Fil magazine article HERE + Short English version

The Business Journals HERE

Yahoo! Finance HERE

La Force is also very proud to participate in the funding of this project along with four other foundations. Additional financial support is needed to complete the project; foundations or individuals are encouraged to contact La Force if they would like to directly support this project through donations.

Once again… There is strength in unity.

 RYAN’S QUEST   SAVE OUR SONS   MICHAEL’S CAUSE   PIETRO’S FIGHT

DUCHENNE ALLIANCE

Diseases rarer than February 29th!

Did you know that February is the Rare Disease Month?

And that February 29th, a rare day that only happens four years is International Rare Disease DayRead more

DMD is also a Zebra

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

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

The zebra has been used as a symbol for rare diseases since about 1940. This comes from a quote by Dr. Theodore Woodward: “When you hear the sound of hooves behind you, do not expect to see a zebra”. This is the metaphor Dr. Woodward used to teach students basic concepts about the diagnosis of a disease: when examining a patient’s symptoms, it’s better to think of a horse rather than a zebra. It’s a fact that horses are hoofed animals more commonly encountered than zebras, so you should automatically assume that if you hear the sound of hooves, it should be a horse, not a zebra, right? See: http://rqmo.org/le-zebre/ (in French)

Conversely, if we can’t confirm a common disease, it may be because it is a zebra, and continue the research among the approximately 7,000 known rare diseases. This inevitably results in very long diagnosis delays, along with a lot of consequences this entails.

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.

Nearly 75% of these diseases affect children and about 80% of them are genetic.

A few examples of rare diseases: cystic fibrosis, Duchenne muscular dystrophy, Huntington’s disease, autoimmune myasthenia and Angelman Syndrome.

The term “orphan disease” is often confused with the term “rare disease” because the vast majority of rare diseases are orphans in many ways.

There are approximately 350 orphan drugs for about 7000 rare diseases.

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. Read more

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.

We wish to emphasize that the information contained in this article come mainly from the RQMO website, which can be found at http://rqmo.org/ . We thank them.