Hope and Gratitude: Moving Closer to a Cure for Duchenne

As I type this, my heart is filled with hope. A horizon that we could barely see 12 years ago has arrived. When our son Hawken was diagnosed with Duchenne Muscular Dystrophy 12 years ago, we felt lost and scared. By forming CureDuchenne we took on the challenge of finding a cure for this horrible disease that has no treatment, no cure and receives little government funding.

This effort ignited in us a sense of hope but it seemed that progress was so far away. That distant horizon is getting closer.

Yesterday, BioMarin Pharmaceutical submitted a New Drug Application or NDA with the U.S. Food and Drug Administration for its drug, drisapersen — the very first for a possible therapy for Duchenne Muscular Dystrophy.  

Drisapersen is designed to slow the progression of the disease by skipping over faulty sections of genetic code that prevent the formation of essential building blocks of healthy muscles.  This first drug is developed to treat those Duchenne patients who are amenable to skipping exon 51, about 13% of all those afflicted with Duchenne.

No other Duchenne treatment has ever reached this stage in the United States. For us, after 12 years of hard work, the NDA is big news. It is an unprecedented step toward our ultimate goal: finding a cure for Duchenne. Although this is an important milestone, drisapersen must first receive FDA approval before this drug will be available to our sons.

CureDuchenne’s early support of Prosensa, which was later acquired by BioMarin, was a risk, and it has paid off. It’s easy to find support when research looks promising. The hard part is analyzing the early-stage options and choosing the right direction. 

We are proud to have not only supported drug development by Prosensa, but Sarepta Therapeutics and PTC Therapeutics, which concentrate on rare diseases like Duchenne. These three companies are the furthest along in development of potential treatments for Duchenne. In fact, we have funded seven Duchenne research projects that have advanced to human clinical trials. We provided more than $2 million in funding for Prosensa’s drug development programs.

While drisapersen will not help my son’s mutation of Duchenne, hopefully it will help thousands of other boys. My heart races for those parents whose sons could  benefit from this drug, and also for Sarepta Therapeutics’ drug etiplersen which treats the same population of those impacted with Duchenne that need to skip exon 51, as well as a different set of those impacted with Duchenne that need PTC’s drug.

I’m very grateful and proud of my family and close friends who provided the early funding to Prosensa, Sarepta and PTC.  Even though these drugs will not help my son, this generous and compassionate group of friends and family shared our vision that all boys would have a treatment…even if it meant one boy at a time. It’s been a joy to see all the boys that are able to participate and benefit from this generosity by being included in all of these trials.

Thank you to BioMarin for your commitment to help boys and young men living with Duchenne. We share your determination to find a cure.

Thank you to everyone at Prosensa and all the researchers who have been working so hard to get drisapersen this far.  We are grateful for Hans Schikan and Gerard Platenburg, both former CEOs of Prosensa.

Thank you to all our donors who helped us fund this critical research. It is because of your support we have been able to help accelerate the drug development process and get us closer to finding a cure.

The support that we have received over the past 12 years has humbled and inspired us, and from the bottom of my heart, I am grateful.

And most of all, thank you to all of the boys, young men and those few girls who are living with Duchenne…you are the true heroes.

I’m proud to say that today is a day of hope for Duchenne families.