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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 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

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 trial. The 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

 

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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.

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ANTOINE, A 7-YEAR OLD IRONKIDS, GOES ALL OUT FOR LA FORCE

IRONKIDS Mont-Tremblant Fun Run is mission accomplished for Antoine. He was so touched by Anakin’s story and La Force Foundation, he decided on his own to take action. Sometimes we tend to think that individual action is not effective for a cause. Well, this boy has proven that this isn’t true!

IRONKIDS SEE Y’ALL AT THE FINISH LINE!

In 2015, a team of three Tremblant athletes completed a full Ironman. Team 1 – Vie-Tesse, added an additional difficulty to the ordeal by using single speed bikes for the cycling portion. On this occasion, the Foundation team had produced a video to raise awareness about the challenges associated with access to new treatments.

 

SHAKEN BY THE REALITY OF DUCHENNE MUSCULAR DYSTROPHY (DMD)

When I spoke to Anthony’s mother, Annie Bergeron, she recounted the story in these words: “I participated in a La Force event, and one evening I was watching the 1 – Vie-Tesse Ironman video to improve my knowledge of the cause … It was then that Antoine came and asked me some questions … ”

Annie then taught him that life for Anakin and other children with Duchenne muscular dystrophy is not at all easy… The kids gradually lose their strength, instead of growing like other children. Antoine was upset by this revelation. He said: “Why him, Mom? It makes no sense that things like this happen … He’s little … What can I do to help? “That’s when they got the idea to participate in the IRONKIDS event. It was his project: he was going to train, drive his own business with the Foundation in order to become a La Force Athlete and go all the way…

 

EVERY ACTION HAS ITS POSITIVE EFFECTS

It’s sometimes difficult to motivate children. That wasn’t the case with Antoine: he was on fire during the four weeks of training. Each evening on his return from school, he would drop his pack and leave to enthusiastically run his daily kilometer. We at Team La Force were deeply touched by this boy’s initiative.

 

Moreover, and this is not just anything, Antoine is the athlete having completed an individual event who has raised the most money so far this year! That’s not all: Antony decided to form a La Force team with friends next year.

Thank you, Anthony. Team La Force is really proud of you and we look forward to supporting you in your other sporting challenges.

Special thanks to Nicholas Latreille for his amazing support for Antoine.

 

Would you like to attend an event and raise money for La Force? Just email us at info@laforcedmd.com

 

 

 

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