When it comes to Duchenne muscular dystrophy (DMD), Leonardo Feder knows he’s among the lucky ones. A resident of São Paulo, Brazil’s largest city, Feder was diagnosed with Duchenne at age 6 and immediately began taking corticosteroids as well as heart medicine and supplements. Leonardo Feder,…
Parent Project Muscular Dystrophy (PPMD) has granted $105,000 to the University of Missouri School of Medicine to advance research into a mini-dystrophin gene therapy that may protect cardiac function in Duchenne muscular dystrophy (DMD) patients. The funds were raised during PPMD’s Cardiac Initiative holiday campaign highlighting the…
A couple weeks ago, a blogger with mitochondrial myopathy posted an interesting piece of advice in her Instagram story: “Instead of telling disabled kids ‘You can do anything you want if you put your mind to it,’ I think we should tell them, ‘The things you are…
G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanet and the American Epilepsy Society define as including Dravet syndrome. All three designations are among some 70,000 diseases listed in the latest…
Severe Duchenne muscular dystrophy (DMD) is linked to increased susceptibility to a rare and aggressive type of muscle cancer called rhabdomyosarcoma, a mouse study suggests. The finding was reported by researchers from Sanford Burnham Prebys Medical Discovery Institute in the study, “Muscle Stem Cells…
The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…
Popeyes Louisiana Kitchen’s franchisee Sailormen has launched the 15th Annual “Appetite for a Cure” campaign to enhance the lives of those living with muscular dystrophy (MD) and related disorders. Money raised will support efforts by the Muscular Dystrophy Association (MDA) to combat MD and other diseases of the…
The Institute for Clinical and Economic Review (ICER) has set up a draft document to review evidence of the effectiveness of treatments for Duchenne muscular dystrophy (DMD). The review, “Deflazacort, Eteplirsen, and Golodirsen for Duchenne Muscular Dystrophy: Effectiveness and Value,” focuses on Sarepta Therapeutics’ Exondys 51 (eteplirsen) and…
Many YouTubers create meaningful content about their lives with disability and chronic illness. By showing what it’s like to live with physical obstacles, they create awareness and inspire others in similar circumstances. Such videos have introduced me to many helpful medical aids and products. Recently, I found…
Sarepta Therapeutics is partnering with Roche to accelerate the development and expand the availability of SRP-9001 — its leading gene therapy candidate for Duchenne muscular dystrophy (DMD) — outside the Unites States. DMD is caused by deficient production of dystrophin — an essential protein for…
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