January 2024

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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Sarepta Therapeutics reported positive data for SRP-5051, their next-generation exon skipping agent designed for individuals amenable to skipping Exon 51. In part B of the Phase 2 MOMENTURM study, ambulatory and non-ambulatory individuals who received the high dose of 30 mg/kg once every 4 weeks had an average dystrophin expression of 5.17% at 28 weeks. This…

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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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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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Sarepta Therapeutics, Inc. today announced positive data from Part B of SRP-5051-201, the MOMENTUM study. MOMENTUM is a global, Phase 2, multi-ascending dose clinical trial of SRP-5051 that enrolled patients aged 8 to 21 years. SRP-5051 is a next-generation peptide phosphorodiamidate morpholino oligomer (PPMO) treatment for individuals with Duchenne who are amenable to exon 51…

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Last year, PPMD hosted a Duchenne Early Care meeting as part of the 2023 Duchenne Healthcare Professionals Summit, focusing on key aspects of care for the youngest children in our Duchenne community, in preparation for expanding newborn screening for Duchenne. Bringing together experts, the meeting delved into how to best care for babies and toddlers…

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I love to read, but finding time to sit down with a good book can be challenging in my busy house. As a mom to seven and a primary caregiver to my three sons with Duchenne muscular dystrophy (DMD), quiet time is often interrupted by my children. Occasionally, however, I find a book I can’t…

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PPMD is excited to announce another significant milestone: Minnesota has officially approved the addition of Duchenne to the state’s newborn screening panel! Approximately 63,000 babies are born in Minnesota every year, which means that we expect this program to identify at least six babies with Duchenne annually once implemented. Minnesota is now the third state,…

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PPMD is disappointed to learn that the European Medicines Agency (EMA)’s Committee for Medicinal Products for Human Use (CHMP) today issued a negative opinion following the re-examination procedure for the conditional marketing authorization of Translarna (ataluren), which will result in the withdrawal of the therapy for Duchenne patients with nonsense mutations  in Europe. The decision…

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