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.

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Duchenne muscular dystrophy (DMD) won’t stop Samuel…

“When you focus on your dreams and objectives, the disease disappears!”

At 22 years old, Samuel Lachaine recently completed his Bachelor’s degree in journalism at UQAM. He also got his first job in the field as a sports journalist for RDS. But that’s not all. Samuel has Duchenne muscular dystrophy (DMD).

DMD is a degenerative muscle disease, for which no treatment exists. It causes a progressive loss of mobility and premature death. However, DMD hasn’t stopped Samuel! Despite the extreme competitiveness in the field of sports journalism, Samuel hasn’t been treated any differently than other students or colleagues. He paves his way.

When I spoke with Samuel, I wanted to know where he finds his inner strength. He told me, “When you focus on your dreams and objectives, the disease disappears. I’ve been dreaming of becoming a sports journalist since the age of 10. I remember meeting a career counsellor, who told me that it wasn’t a good idea, that it was challenging to make a career in that field. To this, I said: ‘Just watch me!’”

Life after the shock of receiving a DMD diagnosis

Samuel’s parents played a significant role in his success. A note: Samuel’s brother also has the disease. Samuel explains: “When my parents first got the diagnosis, their life stopped, but they managed to remain positive. They told us: “DMD might cause you some difficulties, but you need to carry on with your dreams and keep your drive alive. We will be there to support you.”  This support and positive attitude proved to be a major factor in his life. Today, Samuel lives his dream; he has become a journalist. His success has had an impact on his brother, who is a business owner.

“DMD might cause you some difficulties, but you need to carry on with your dreams and keep your drive alive. We will be there to support you.”

Samuel is a true inspiration! He’s proving to each of us that we can make our dreams come true. DMD could have squashed his dreams, but it didn’t.

In the future, Samuel’s ambition is to host his own sports show. We’re all behind you, Samuel! When we look at you, we are genuinely inspired by your determination!   

Thank you for sharing Samuel’s story!

We invite you as well to share your story here! #myduchennelaforcestory

For more inspiration from Samuel, you can follow his blog here. Enjoy!

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…