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Behind the Drug: Risdiplam (Evrysdi) for SMA
Spinal muscular atrophy (SMA) is a rare genetic disease affecting 1 in 11,000 live births in the United States. SMA is an autosomal recessive condition, meaning that a person with the condition receives two copies of the mutated SMN1 gene, one from each parent. The SMN1 gene is responsible for making SMN protein, which promotes…
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A weekend trip with my family stirred up mixed feelings
Last summer, I wrote a column about my beach vacation with my family. It was an incredible trip, but I had my doubts about future travel. With my facioscapulohumeral muscular dystrophy (FSHD) progression accelerating, I had to acknowledge that future travel might be difficult, if not impossible. My daughter Jill is our family vacation coordinator. She…
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Elevidys shipments for ambulatory DMD patients to resume
Sarepta Therapeutics will soon resume shipping Elevidys (delandistrogene moxeparvovec-rokl) for ambulatory Duchenne muscular dystrophy (DMD) patients, following a review of safety data by the U.S. Food and Drug Administration (FDA), which recommended the voluntary pause on the gene therapy end. “Last week, at the suggestion of FDA, Sarepta made the difficult decision to pause shipments of…
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Your Voice Is Everything
When the Duchenne and Becker community speaks, the world listens — not just because of what you say, but because of how deeply it comes from the heart. In recent weeks, families across our community have continued to share their stories. Real life. Real emotion. Real impact. We know how hard that is. It takes…
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Sarepta to Resume ELEVIDYS Shipments to Ambulatory Patients After FDA Recommends Removal of Voluntary Hold for Ambulatory Population
The U.S. Food and Drug Administration (FDA) has announced that the agency is now recommending the removal of Sarepta Therapeutics’ voluntary hold for ambulatory patients eligible to receive ELEVIDYS. In its own press release, Sarepta reported that it will resume shipping ELEVIDYS to sites of care for treatment of ambulatory patients with Duchenne imminently. This…
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Simply Stated: Updates on Friedreich’s Ataxia (FRDA)
Friedreich’s ataxia (FRDA) is an inherited neuromuscular disease that primarily impacts the nervous system and heart and affects about one in 50,000 people worldwide. FRDA is characterized by a slow, progressive loss of limb coordination (ataxia) and effects on speech and swallowing. Multidisciplinary care can improve the quality of life of people living with FRDA…
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Del-zota for DMD awarded FDA breakthrough therapy designation
The U.S. Food and Drug Administration (FDA) granted breakthrough therapy designation to delpacibart zotadirsen, known as del-zota, as a treatment for people with Duchenne muscular dystrophy (DMD) amenable to exon 44 skipping. This designation is intended to speed the development and review of therapies for serious conditions when early clinical evidence is suggestive of a…
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Avidity Biosciences granted Breakthrough Therapy Designation for exon-44 skipping therapeutic, del-zota
CureDuchenne was an early investor in Avidity Biosciences in 2016, and congratulates the company for receiving Breakthrough Therapy Designation from the US FDA for delpacibart zotadirsen (abbreviated as del-zota), their exon 44-skipping agent for the treatment of Duchenne. Why is this important: The FDA grants Breakthrough Therapy Designations to speed up the development and review of drugs for serious…
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How art can foster connection in the disability community
Last Sunday, my girlfriend, Amanda, and I co-led an art workshop that brought us both joy. The accessible art journaling session, “Why your story matters: Where art meets wellness,” was held at the Bishan Public Library in the northern part of Singapore and was part of the National Library Board’s “Body|Brain|Being” inclusive wellness program, which…
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FDA Grants Breakthrough Therapy Designation to Avidity’s del-zota
Avidity Biosciences, Inc. today shared that the U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy designation to del-zota (AOC 1044) for the treatment of Duchenne in individuals amenable to exon 44 skipping. Del-zota is currently being assessed in the Phase 2 EXPLORE44 Open-Label Extension (EXPLORE44-OLE) trial and is the first of multiple exon…
