by Peter Ciszewski | Oct 18, 2021
Lance Leopold, MD, Group Vice President, Immuno-Oncology, at Incyte, discusses the clinical trial of retifanlimab for the treatment of squamous cell carcinoma of the anal canal (SCAC). SCAC is a rare cancer in which malignant cells form in the cells that line...
by Peter Ciszewski | Oct 18, 2021
Kelly Heger, Founder of the AADC Family Network, provides an overview of aromatic L-amino acid decarboxylase (AADC) deficiency. Kelly is the mother and caregiver of Jillian Heger, who lives with AADC deficiency. As Ms. Heger explains, AADC deficiency is a rare...
by Peter Ciszewski | Oct 15, 2021
Pritesh J. Gandhi, PharmD, Former Vice President and General Manager, Lumasiran Program at Alnylam Pharmaceuticals, discusses how patients with primary hyperoxaluria type 1 (PH1) may be diagnosed. PH1 is a rare genetic disease in which excessive oxalate...
by Peter Ciszewski | Oct 15, 2021
Hani Kushlaf, MD, Associate Professor of Neurology and Pathology at the University of Cincinnati, discusses the results of the phase 3 COMET trial testing avalglucosidase alfa in late-onset Pompe disease. Pompe disease is a lysosomal storage disorder caused by...
by Peter Ciszewski | Oct 15, 2021
Kylie O’Keefe, Senior Vice President, Head of Global Commercial and Corporate Strategy at PTC Therapeutics, discusses the results of a recent study on the impact of caring for an individual with aromatic L-amino acid decarboxylase (AADC) deficiency. AADC...
