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:

TAKING ACTION – PORTRAIT OF DUCHENNE – WHEN LIFE CHANGES

Alex Smith

CEO, Harrison’s Fund, United Kingdom

In this eighth interview of our series “ Portrait of Duchenne ”, La Fondation La Force talks with Alex Smith, CEO of Harrison’s Fund, a British-based, leading charity for research into Duchenne muscular dystrophy (DMD). Alex’s life changed when his son Harrison, now 11, was diagnosed with DMD. He decided to do something to make a difference.

 

Before diagnosis

Alex worked in brand marketing in an area near London, England. Every night, he came home to a lovely family, his wife and two sons. As a father, he had many dreams for his children’s future. He hoped that they would grow into productive young men, who would wed and start families of their own.

Alex wasn’t a sporty guy. For at least 20 years, he hadn’t worked out or participated in any sports. In fact, he was physically inactive.

He knew nothing about charities and how they worked.

 

After diagnosis

Then, his son Harrison was diagnosed with DMD.

“When it first happened, it was a really tough moment. The doctor, like (for) many other families, told us our son was going to die and that we should take him home and give him a good life. And, in that moment, our world changed, because it just felt incredibly numb,’’ Alex told us. ”

But Alex realized,

“I’m one of those people who needs to pick himself up and do something about it.”

He started Harrison’s Fund and dedicated his life to the charity.

“We raise money, raise awareness, then give that money to some of the best researchers in the world to try to make a profound difference to all children with Duchenne everywhere.”

 

Ironman

Alex has learned that every action, every movement counts. In 2016, he signed up for an Ironman competition to raise funds for research, but that wasn’t all. “What I wanted to do was (to) have something for Harrison that he could do with me.”

The two trained hard and raced to the finish line together.

“Finishing it with him was probably the most emotional day of my life,” Alex told us. “I remember coming around… the final finish corner with him, going running down the finishing chute, crowds everywhere, Dimitri with us, and he turned to me just before we went down the chute and said, ‘Daddy, we’re going to be Ironmen together.’”

 

DMD changes your life in a split second

The progression of DMD is unforgiving: the body’s muscles gradually weaken, leaving children with DMD in a wheelchair by age 12. They have a life expectancy of 20 to 30 years. There is no cure and, in Canada, no treatment for the cause. Two treatments for DMD are approved in the USA and Europe, but they don’t benefit all children with DMD. Promising treatments, in development, are expected within 5 to 10 years.

 

What’s next for Alex?

Stay rooted in the present. Enjoy every moment with your child. Be part of the solution.  

“The most important aspect of trying to remain positive is choosing to be positive,” Alex says. “Nobody else is going to do it for you, are they? You can’t sit back on your hands and expect everybody else to get it done, because they all need help as well.

 

“That allows the community, the global Duchenne community, when they see positive people, to keep hold of hope and to grasp it. And if they do that, then we’ll get there. And I truly believe we will.”

 

 

Acknowledgements

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

  

Action Duchenne   –   Harrison’s Fund 

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

Watch Alex’s full story HERE

Duchenne Awareness Day

Today, September 7th is International “Duchenne Awareness Day”. We took this opportunity to launch our video. Its aim is simply to raise awareness about Duchenne muscular dystrophy.

The seventh day of the ninth month represent the 79 exons in the dystrophin gene.

Telling as many people as possible about Duchenne Muscular Dystrophy (DMD) is the first step towards a cure. 

Duchenne Muscular Dystrophy 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…

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 Foundation, we work tirelessly to unite the DMD community to raise awareness around a common objective: that of providing access to new treatments as fast as possible and to 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.

 

Share this video and Make a donation here

More 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.

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

The simplest way to explain the disorder is that a genetic mutation (ie, 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 harbor, people afflicted with 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 of him, and he’ll be confined to a wheelchair. Throughout this time, he will be totally aware of this degradation process.

A few years later, during preadolescence, it is quite possible that even the ability to take a deep breath will 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 helplessly watch their child suffer…