The U.S. Food and Drug Administration (FDA) has authorized use of the first test intended to facilitate newborn screening for Duchenne muscular dystrophy (DMD). “Diagnostics that can safely and effectively screen newborns can help health care professionals identify and discuss potential treatment options with parents and caregivers before symptoms…
The U.S. Food and Drug Administration has conditionally approved Vyondys 53 (golodirsen) to treat Duchenne muscular dystrophy (DMD) patients amenable to exon 53 skipping. This accelerated approval comes less than four months after the FDA issued a complete response letter rejecting Sarepta Therapeutics’ application for…
GPM Investments, the sixth largest convenience store chain in the U.S., is running its “Tis the Season for Giving” holiday campaign throughout December to support the Muscular Dystrophy Association (MDA). Since 2012, the company’s partnership with the association has generated more than $1.2 million, which has been used…
A recent cold front has swept through the U.S. As the snow and rain arrive, they bring problems for my skin. The epidermis, the outermost layer, becomes dry, cracked, and irritated. If like me you experience issues with your skin in the winter months, I’d like to share my go-to…
With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…
Two University at Buffalo (UB) medical school students were so moved by a classroom video presentation by a young man with Duchenne muscular dystrophy that they are working to raise money in his honor and memory. Second-year students at UB’s Jacobs School of Medicine and Biomedical Sciences,…
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.
Loss of MICU1, a key regulator of calcium balance in cells, was seen to affect muscle function and repair in a study in mice and cells from people lacking this mitochondrial protein. These findings support the involvement of MICU1 in neuromuscular disorders, its researchers said, and its potential as a…
Many of you who follow my column know that I focus on how those of us with a disability stay strong mentally and physically. I have also written about advocating for ourselves as patients and effecting positive change in society. I will turn 61 next month. I began…
Avidity Biosciences has obtained $100 million to advance its programs for muscle disorder therapies, including a potential Antibody Oligonucleotide Conjugates (AOC) treatment for myotonic dystrophy type 1 (MD1). Based on a technology pioneered by Avidity, AOCs belong to a new class of lab-made molecules that combine the selectivity…
Get regular updates to your inbox.