As we are well aware of the rare muscle disorder known as Duchenne muscular dystrophy (DMD)  and among the most common genetic conditions impacting roughly 1 out of every 3,500 male births around the world.  From the age of 3-6 years is when it becomes physically evident. DMD symptoms include weakness and muscle atrophy in the pelvic area along with the muscles on the shoulder. While the disease…

In an effort to provide regular communication on BioMarin's Duchenne muscular dystrophy programs to the Duchenne community, the company is circulating a quarterly update. This update is the first of its kind for BioMarin, and they welcome your feedback to this new communication channel, which you may do by…

Summit Therapeutics plc announced that its Phase 1b modified diet clinical trial of SMT C1100 for the treatment of Duchenne met its primary objective with half of the patients who received the higher dose of SMT C1100 achieving desired plasma levels while following specific dietary guidance.  Based on these results, Summit will advance SMT C1100 into a Phase 2 open-label clinical trial. Congratulations to our friends at Summit and we look forward to hearing more about next…

So this week, one of our biggest hopes came true.   About a year ago, I left my job to take a consulting position and we moved to British Columbia.  We weren't particularly happy with the services we were receiving in Saskatchewan and decided if we could, we'd move to be closer to one of the Children's hospitals in Canada.  We didn't want to move East to be near Toronto, so BC was the only other choice.  There certainly were some stressful times during the move and since, and it wasn't easy…

Last week, Marathon Pharmaceuticals announced that the company will begin the New Drug Application (NDA) process for deflazacort as a potential treatment for patients with…

(pictured: DuchenneConnect's Family Advisors at PPMD's 2015 Connect Conference)

DuchenneConnect, led by PPMD, has been approved for…

Ad Comm. It’s a term our community will be hearing a lot this fall as companies get closer to the possible approval of treatments for Duchenne. But what is an Ad Comm and how does it involve and affect you or your…

Providers care for many people, with many diagnoses – far too many for any one health care provider to be an expert in them all. Any busy provider would find it difficult to have the time to look over a two-volume document like the Care Considerations [PDF], or even a several-page document like the…

People around the world will help participate in the second annual World Duchenne Awareness Day on September 7th. There are a variety of ways you can get involved with this international effort – how will you raise…

We are coming to the end of the 60 day open comment period for the FDA’s draft guidance on Duchenne. PPMD submitted our comments to the agency yesterday –…

Call and email your Senators today! The Food and Drug Administration’s efforts to support meaningful patient engagement, also known as Patient-Focused Drug Development (PFDD), includes the strengthening of existing tools and creation of new ones needed to fill gaps, policies to allow for greater engagement of external experts in the review process, and a…

Signal to Noise

This is a measure used in science and engineering to compare the level of a desired signal (a measured outcome) to the background noise. In a way, this is the question of what information carries weight/is meaningful and what information clouds the issue.

While this sounds really complicated, we have witnessed…