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It may take an average of 11 years before people with Duchenne muscular dystrophy (DMD) lose upper body function and the ability to breathe on their own, according to a study by researchers of the HERCULES project, which set out to construct a natural history model of the disease to support cost evaluations of new…

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Amid a topsy-turvy start to 2024, I’ve marked a date on my calendar I’ve been looking forward to more than any other: Valentine’s Day. While it might not be a particularly significant day for many others, it’s a big deal for me. It’ll be my first time celebrating the day after unexpectedly falling in love…

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RegenXBio shared positive updates from their Phase 1/2 AAV micro-dystrophin gene therapy clinical trial for individuals with Duchenne aged 4-11 years old.  The 3 individuals in the lowest dose cohort all demonstrated reductions in CK levels, and expression of micro-dystrophin averaging 44% at 3 months.  Enrollment is also complete for a second cohort, which will…

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I do too much. You might assume I’m talking about caregiving because you’re reading a column written by a caregiver. And in part, you’re right. But mostly, it’s an admission that I’ve been doing things for my three sons with Duchenne muscular dystrophy (DMD) that they can do themselves. My oldest son, Max, 18, is…

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A committee of the European Medicines Agency (EMA) has maintained its initial recommendation not to renew the conditional marketing authorization for Translarna (ataluren), PTC Therapeutics’ medication for Duchenne muscular dystrophy (DMD). The recommendation by the Committee for Medicinal Products for Human Use (CHMP) comes after the company appealed the negative opinion issued in September 2023…

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Earlier this week, Duchenne parent and PPMD Advocate Jill Castle testified before the Arizona State Senate Health & Human Services Committee in support of Senate Bill 1020, which seeks to add Duchenne to Arizona’s newborn screening panel. PPMD, along with partner organizations, also signed onto a letter in support of SB 1020. We’re excited to…

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I received an email on Jan. 12 from Duchenne UK, an important Duchenne muscular dystrophy (DMD) nonprofit in the United Kingdom. Its announcement: “Breaking News! First treatment for all [DMD] patients approved in U.K.” It went on to note that the Medicines and Healthcare products Regulatory Agency, the U.K.’s version of the U.S. Food and…

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By Jacob Gapko Jacob Gapko is 46 years old and has Duchenne muscular dystrophy. He uses a power wheelchair and non-invasive ventilation 24/7. He has a B.S. in physics and minors in mathematics and library science. Jacob currently serves as chief information officer for Family, Friends, and Duchenne. This blog post originally appeared on Family, Friends,…

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Last week, PPMD was joined by Kathy Mathews, MD (Neurologist), Christina Trout, RN, MSN (Clinic Coordinator), and Rachel Kinn, PharmD, BCPPS (Pharmacist) from the University of Iowa to discuss decision making regarding steroids. In recent months we have learned there will soon be more steroid options clinically available to people living with Duchenne. We invited…

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SRP-5051 is able to increase the production of dystrophin protein in people with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping — a trial finding its developers suggest will lead to a positive risk-benefit profile for the next-generation DMD treatment. The full results of the two-part Phase 2 clinical trial — called MOMENTUM (NCT04004065)…

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