By: Pat Furlong, President and CEO, Parent Project Muscular Dystrophy (PPMD)

September 7 is World Duchenne Awareness Day, a time to raise awareness and inspire action to improve the lives of people living with Duchenne and Becker muscular dystrophy. The Duchenne Registry began in 2007, when a group of thought leaders in the Duchenne muscular dystrophy community began discussing the need for a new kind of resource that would connect and serve the needs of the entire community. Today, The Duchenne Registry is the largest, most comprehensive patient-reported registry for Duchenne and Becker muscular dystrophy. Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne and the founding organizers of the registry, recently released the 15 Year Registry Report, a culmination of data provided by registrants, as well as collaborative work with expert clinicians and researchers over the past 15 years.

“Families affected by Duchenne and Becker muscular dystrophy do not always receive the most up-to-date information on care and treatments,” PPMD Founding President and CEO Pat Furlong notes. “The Duchenne Registry provides families access to top researchers and clinicians, as well as notification about clinical trials that may help their child. And by participating in the registry, families can take an active role in helping to improve care for all people living with Duchenne and increase understanding of the disorder.”

Over the past 15 years, the Registry team has used the data to identify and connect individuals with Duchenne and Becker to over 80 actively recruiting clinical trials and over 100 non-interventional research studies. Additionally, data from The Duchenne Registry has been shared with researchers nearly 65 times and used in 13 publications. Ann Martin, PPMD Vice President of Community Research and Genetic Services, notes, “Families have become citizen scientists by contributing to real scientific research, without ever leaving their homes.”

A look at the results 

The 15 Year Registry Report is a summary of approximately 5,500 registrants representing nearly 125 countries. Participants include: 75% with Duchenne, 8% with Becker, 7% with Duchenne or Becker (diagnosis unclear), and 10% female carriers.

The 32-page report reveals a number of interesting data points PPMD believes will be important to researchers and industry partners: 

Diagnostic delay 

The average age at diagnosis is 4.2 years for Duchenne and 10.8 for Becker. The average age when symptoms were first noticed was 2.8 years for Duchenne and 8.0 years for Becker. 

Genetic variants

The three most common categories of genetic variants in registrants are whole exon deletions (64%), nonsense variants (12%), and whole exon duplications (11%). Approximately 30% of registrants are amenable to one of the approved exon skipping therapies (for skipping of exon 51, 53, or 45).

Corticosteroids

The average age at initiation of corticosteroids is 5.9 years for Duchenne registrants.

Most registrants in the United States report taking corticosteroids daily (83%). However, the percentage of registrants using weekend (also called twice-weekly) dosing increased, with registrants born more recently (during or after 2010) being more likely to use a weekend dosing schedule than those who were born before 2010 (28% versus 9%).  

Ambulation

Registrants using deflazacort maintain ambulation longer than registrants using prednisone or no corticosteroids. The average age at loss of ambulation for registrants who never used corticosteroids was 10.5 years, for prednisone users was 10.8 years, and for deflazacort users was 12.0 years.

Cardiac screening

The use of echocardiogram and cardiac MRI in Duchenne increased across most age groups when comparing the time periods 2007-2012, 2013-2017, and 2018-2022 with some age groups having statistical significance. More consistent cardiac screening may be a reflection of better adherence to the standard of care guidelines, first published in 2010 and updated in 2018. 

Pulmonary screening

For Duchenne registrants, the use of pulmonary function tests increased from 2007–2012 to 2013–2017, but then decreased in the most recent time period, 2018–2022. This may be because many clinics temporarily paused doing pulmonary function testing during the COVID-19 pandemic.  

Scoliosis

Non-corticosteroid users were 4 times more likely to develop scoliosis than those who currently use corticosteroids.  

Clinical trials

33% of Duchenne registrants and 12% of Becker registrants in the United States reported either currently or previously participating in a clinical trial.  

What’s next?

Several upgrades are planned for 2023 to make participating in the Registry easier and more accessible to all families, including a Spanish version of the Registry app and a new web portal. PPMD continues to work toward breaking down silos around patient data so that we, as community, can learn more about Duchenne faster.  

PPMD is grateful for those who have participated in The Duchenne Registry. These contributions have been instrumental in advancing research and understanding of the disorder. 

Learn more about The Duchenne Registry at DuchenneRegistry.org and download the 15 Year Registry Report here.