ChallengesExperts share their insights in diagnosing and managing rare conditions
- FDA Grants Orphan Drug Designation to Gene Therapy for CLN2 Form Of Batten Disease
The U.S. Food and Drug Administration (FDA) granted Orphan Drug Designation to RGX-181, a one-time treatment candidate for late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, one of the most common forms of Batten disease caused by mutations in the tripeptidyl peptidase 1 (TPP1) gene.
- Pulmonary Arterial Hypertension: Current Treatment Options
Roxana Sulica, MD, Associate Professor, Department of Medicine and Director, Pulmonary Hypertension at NYU Langone in New York City discusses the current tretment options of pulmonary arterial hypertension (PAH), a progressive condition that affects th …
- Hereditary Sensory and Autonomic Neuropathy Type 1E (HASN1E) Overview
Rachelle Dixon, President and co-founder’s of the HSAN1E Society discusses hereditary sensory and autonomic neuropathy type 1E (HSAN1E), a progressive disorder of the central and peripheral nervous systems.
- FDA Approves Clobazam Oral Film (Sympazan) for Lennox-Gastaut Syndrome
The US Food and Drug Administration (FDA) approved an oral film formulation of clobazam (Sympazan, Aquestive Therapeutics) for the adjunctive treatment of seizures associated with Lennox-Gastaut syndrome (LGS) in patients 2 years and older.
- The Challenges of Developing Drugs for Rare Diseases
Richard A. Basile,Co-Founder and CEO of BioPontis Alliance for Rare Diseases, discusses the challenges of developing drugs for rare diseases.
- The State of Rare Diseases
Richard A. Basile, Co Founder and CEO of BioPontis Alliance for Rare Diseases, discusses the state of rare diseases and the critical challenges facing it.
- FDA Approval of Revcovi for Treating ADA-SCID Patients
The FDA approved Revcovi (elapegademase-lvlr) injection in the United States, for the treatment of adenosine deaminase severe combined immune deficiency (ADA-SCID) in pediatric and adult patients.
- FDA Approves Hemlibra for Hemophilia A Without Factor VIII Inhibitors
The FDA expanded the approval of Hemlibra (emicizumab-kxwh) to include routine prophylaxis to prevent or reduce the frequency of bleeding episodes among individuals with hemophilia A without factor VIII inhibitors.
- Translational Science at the NIH: Moving Beyond “One Disease at a Time”
Philip John Brooks, PhD, Program Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health (NIH) discusses his work in rare diseases at the NIH.
- Cystic Fibrosis and Pulmonary Exacerbations
Greg Duncan, CEO of Celtaxsys discussed cystic fibrosis (CF) and the role of pulmonary exacerbations.