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.
The bad news continues for PTC Therapeutics. Today the company announced the FDA denied the company's first appeal of the Refuse to File letter issued by the FDA in February.
Here is a tip from the Cerebral Palsy Foundation (and a few celebrities like Tim Cook, Gayle King, John Oliver, Felicity Huffman, Michael J Fox, William Macy, Mario Batali, Joe Girardi, Oliver Platt)