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…
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…
A new mouse model of Duchenne muscular dystrophy (DMD) can help researchers test potential gene editing therapies by showing real-time levels of the dystrophin protein in muscles and the heart, a study suggests. The new strategy is a sensitive,…
A glance around the walls of Barry J. Byrne’s office reveals a lot about the pediatric cardiologist who runs the Powell Gene Therapy Center at University of Florida (UF). In one corner is an unusual painting by 9-year-old Will Barkowsky of Jacksonville, Fla. Will, the first boy with…
CureDuchenne has begun taking blood samples and skin biopsies to facilitate research on new treatments for Duchenne muscular dystrophy. The CureDuchenne Biobank is a partnership involving neurologist Tahseen Mozaffar, MD, of the University of California-Irvine and RUCDR Infinite Biologics of Piscataway, New Jersey.
A new technique that compares RNA production between an individual’s two gene copies may help find genetic alterations that lead to muscular dystrophy and other rare diseases, a study suggests. The research, “Genetic regulatory variation in populations informs transcriptome analysis in rare disease,” appeared in the…
Long-term treatment with Puldysa (idebenone) provides a stable reduction of lung function decline by approximately 50% in people with Duchenne muscular dystrophy (DMD), a study shows. The research, “Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy,” was published in…
NS Pharma will share future plans for viltolarsen, its investigational exon-skipping therapy for Duchenne muscular dystrophy (DMD) in a webinar hosted by Parent Project Muscular Dystrophy (PPMD) on Wednesday. The company will discuss viltolarsen’s mechanism of action and its current regulatory status during the one-hour webinar,…
Parent Project Muscular Dystrophy (PPMD) announced it is updating its global registry with a new, user-friendly app intended to empower people with Duchenne muscular dystrophy and their families to become more informed and engaged. Created by Thread, a company that specializes in remote and decentralized patient…
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