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The holiday season makes me regret not making my kids do chores
The holiday season is upon us, and I am already exhausted. I’m well aware of everything I need to do in December, so being this tired already isn’t great. It makes me think about the opening lines of “The Night Before Christmas”: “Twas the night before Christmas when all through the house, not a creature…
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A Thanksgiving Message from Pat
This Thanksgiving, I find myself reflecting deeply on gratitude, especially for this incredible community that feels like family. This season always brings a moment to pause, to take stock of where we’ve been and where we’re going. For me, that reflection is rooted in the strength, compassion, and resilience of everyone connected to the Duchenne…
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Watch the Recording: Avidity Biosciences – EXPLORE44-OLE® Topline and Functional Data Presentation
Avidity Biosciences joined PPMD for a community webinar on November 19, 2025, during which the company shared topline and functional data from their EXPLORE44-OLE® clinical trial. Avidity’s investigational therapy, delpacibart zotadirsen (abbreviated as del-zota), is in development for individuals with Duchenne muscular dystrophy who are amenable to exon 44 skipping. In addition to presenting insights…
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Sarepta announces new clinical trial cohort to evaluate enhanced immunosuppression protocol to accompany Elevidys gene therapy in non-ambulant individuals
Sarepta Therapeutics has announced that the FDA has approved Cohort 8 of the ENDEAVOR study, to evaluate the use of immunosuppression with sirolimus as part of treatment with Elevidys in non-ambulatory individuals with Duchenne. Data from this cohort will determine whether administering sirolimus before and after Elevidys infusion can help reduce acute liver injury observed…
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Rainy days, Mondays, and FSHD make feeling grateful a challenge
It’s a wintery Monday morning as I write this. My wife, Wendy, left a while ago for an all-day outing with her knitting group. My daughter Jill, who lives with us, is working downtown today. It’s just as well. They say misery loves company, but I’m better off being by myself today. I’m feeling as…
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Wave clinical trial for Duchenne amenable to skipping exon 53 currently enrolling in US
Wave Life Sciences has announced that they are initiating Part C of the FORWARD-53 trial—an open-label Phase 1b/2 study of up to 15 ambulatory individuals aged 4-10 years and amenable to skipping exon 53. Participants will receive an IV infusion of WVE-N531 every 4 weeks following an initial loading dose regimen, and will undergo muscle…
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Simply Stated: Updates in Primary Mitochondrial Diseases
Mitochondria, often called the “powerhouses of the cell,” generate much of the energy that our bodies need to function. When mitochondria fail, organs that require high levels of energy, like the muscles, brain, and heart, can be affected, leading to conditions known as primary mitochondrial diseases. These diseases can result from genetic mutations in nuclear…
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The body trait that helps keep your brain young
Scientists discovered that more muscle and less hidden abdominal fat are linked to a younger biological brain age. Deep visceral fat appeared to accelerate brain aging, while muscle mass offered a protective effect.
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PPMD Launches New Study to Understand Patient and Caregiver Treatment Preferences
PPMD has a long history of working alongside our community to document treatment preferences and share those insights with regulatory authorities such as the FDA. Through town halls, listening sessions, and conversations at community events, we consistently hear that stability is a critically important (transformative) outcome in both care and treatment. There is no consensus…
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A Government Shutdown Couldn’t Stop Advocates During MDA on the Hill 2025
On November 2-4, 2025, despite a historic government shutdown, MDA returned to Washington, D.C. for MDA on the Hill. Grassroots advocates from across the country traveled to the nation’s capital to urge lawmakers to support policies that will empower the neuromuscular community, including protecting access to health care, supporting medical research funding, and easing the burden…
