Raredr

Musculoskeletal

PTC Therapeutics Buys FDA-approved Corticosteroid from Marathon for $140 Million
Did PTC just replace Marathon as the most hated pharma company out there?
In preclinical studies, Dr. Olson’s lab used adeno-associated virus (AAV) and CRISPR/Cas9 technology to identify and correct exon mutations in the dystrophin gene.
I am guessing that the CEO of Marathon got some hate mail this weekend.
At this time, the company plans to continue assessing the data and also plans to continue with its open label extension of the study.
Levi is 3-years-old and has LCMD, rare form of congenital muscular dystrophy (CMD).
Gay and Steve Grossman, co-founders of ADCY5.org provide some advice for finding (and retaining) researchers to help patient advocacy groups
Priya Kishnani, MD, PhD was instrumental in getting an orphan drug approved for Pompe disease. But the management of Pompe disease requires a multidisciplinary approach and enzyme replacement therapy is only one part of that care.
At the Child Neurology Society Annual Meeting (CNS 2016) in Vancouver, we talked with James Meyer, Senior Director of Medical Affairs at Marathon Pharmaceuticals about their poster presentation
A recently published review article in Expert Opinion of Orphan Drugs, Drs Spinazzola and Kunkel provide an overview of the leading drugs in development for treating the secondary effects of DMD.
In this interview during the Rare Disease Heroes Award Ceremony, Priya Kishnani, MD, PhD of Duke University Medical Center talks about the long journey to get an approved treatment for Pompe disease as well as have that rare disease listed on new born screening.
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