by Peter Ciszewski | Mar 18, 2022
Richard Poulin, father of a young girl with aromatic L-amino acid decarboxylase (AADC) deficiency, discusses his daughter’s positive experience with an investigational gene therapy. AADC deficiency is a rare genetic disorder that affects the nervous and...
by Peter Ciszewski | Mar 16, 2022
Patrick Horn, MD, PhD, Chief Medical Officer at HemoShear Therapeutics, discusses the phase 2 HERO trial evaluating HST5040 in patients with methylmalonic acidemia (MMA) and propionic acidemia (PA). MMA and PA are rare inherited metabolic disorders in which...
by Peter Ciszewski | Mar 15, 2022
Kathie Bishop, PhD, Chief Scientific Officer, Acadia Pharmaceuticals, discusses the proposed mechanism of action of trofinetide, an orphan drug in development to treat Rett syndrome. Rett syndrome is a rare progressive neurodevelopmental condition that...
by CheckRare Staff | Mar 15, 2022
Dean Suhr, President and Co-Founder of the MLD Foundation, gives an overview of the treatment landscape for metachromatic leukodystrophy (MLD). MLD is a lysosomal storage disorder caused by arylsulfatase A (ARSA) deficiency. It is characterized by the...
by James Radke, PhD | Mar 11, 2022
Jonathan Bernstein, MD, Professor of Medicine at the University of Cincinnati, hosts a 15-minute certified continuing medical education program summarizing the latest information about hereditary angioedema (HAE) that was presented at the American College of Allergy,...
