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A Phase 1/2 clinical trial testing SRP-1003, a treatment for myotonic dystrophy type 1 (DM1), is progressing as planned and continues to enroll patients at higher doses. The Phase 1/2 study (NCT06138743) is expected to enroll 78 adults, ages 18 to 65, who have a genetically confirmed diagnosis of DM1. To be eligible, prospective participants…

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Sarepta Therapeutics, Inc. has shared that the U.S. Food and Drug Administration (FDA) has approved dosing in Cohort 8 of ENDEAVOR, an open-label, Phase 1b study assessing the expression and safety of ELEVIDYS in multiple cohorts of individuals living with Duchenne. The purpose of Cohort 8 is to evaluate the use of an enhanced immunosuppressive…

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Samaher (Sam) Abuzahriyeh is 33 years old and lives in Millbrae, CA. She was diagnosed with limb-girdle muscular dystrophy (LGMD) at age 6 and began using a power wheelchair at age 17. She enjoys writing poetry in Arabic, watching shows across genres and languages, exploring accessible trails and scenic spots in the Bay Area with…

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A research team has found that specific immune cells can connect with muscle fibers in a lightning-fast, neuron-like way to promote healing. These cells deliver quick pulses of calcium, triggering repair within seconds. The mechanism works in both injury and disease models. The discovery could inspire new treatments for muscle recovery and degeneration.

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I am conflicted about the word “cure.” Dictionary.com defines the noun in several ways, including: “a method or course of remedial treatment, as for disease. Synonyms: antidote, specific, restorative, remedy” and “a means of correcting or relieving anything that is troublesome or detrimental.” In my view, the idea of correcting or relieving anything troublesome is…

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I met my husband, Jason, when we were both student athletes at a small college in our hometown. He played football, and I was on the track team. Before we had children and settled into adult life, Jason and I enjoyed going to parties. We had so much fun together. One night stands out in…

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Researchers at Lexeo Therapeutics are seeking individuals with cardiomyopathy associated with Friedreich’s Ataxia (FRDA) to participate in an observational study (CLARITY-FA). The assessments and questionnaires from this study will help to provide valuable data about heart disease in FRDA and advance Lexeo’s gene therapy research. The study This is an observational study, which means that participants…

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Hello! For those of you who don’t already know me, my name is Lily and I live with Charcot-Marie-Tooth disease (CMT). While I am not a parent, these recommendations come directly from my lived experience growing up with neuromuscular disease. This blog candidly reflects what truly helped me build confidence, self-worth, and a positive identity…

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New findings from research in mice are challenging longstanding beliefs about the causes of Duchenne muscular dystrophy (DMD), with evidence showing that the genetic disease is marked by abnormalities in muscle stem cells during fetal development — indicating DMD may start in the womb. According to the researchers, these findings suggest that people with DMD may be…

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Recently, the Duchenne and Becker community gathered virtually for the final PPMD Together meeting of the year. This intimate session centered on fostering friendships for everyone in the family while living with dystrophinopathy.  The meeting, led by PPMD’s CEO, Katherine Beaverson, emphasized the community’s experiences of fostering relationships at every stage of life. Rachel Poysky,…

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