Results from the ElevAATe Clinical Trial of Efdoralprin Alfa for Patients With AAT Deficiency +++ +++

CLINICAL PERSPECTIVES Results from the ElevAATe Clinical Trial of Efdoralprin Alfa for Patients With AAT Deficiency https://checkrare.com/results-from-the-elevaate-clinical-trial-of-efdoralprin-alfa-for-patients-with-aat-deficiency/ Alaa Hamed, MD, Global Head of Medical Affairs Rare Diseases at Sanofi, discusses results from the ElevAATe clinical trial of efdoralprin alfa for the treatment of patients with alpha-1 antitrypsin deficiency (AATD). Ipsen’s Current Rare Disease Therapies: Approved and In Development https://checkrare.com/ipsens-current-rare-disease-therapies-approved-and-in-development/ Christelle Huguet, PhD, Head of Research and Development at Ipsen, discusses the company’s current approved orphan drugs and those in development for rare diseases. Results From the PEGASUS Clinical Trial of Pegvaliase in Patients With PKU https://checkrare.com/results-from-the-pegasus-clinical-trial-of-pegvaliase-in-patients-with-pku/ Kevin Eggan, PhD, Chief Scientific Officer at BioMarin, discusses new results from the PEGASUS clinical trial of Palynziq (pegvaliase) for treating patients with phenylketonuria (PKU). Patient Perspective: Lipodystrophy Diagnostic Journey https://checkrare.com/patient-perspective-lipodystrophy-diagnostic-journey/ Sharon Halperin, Research Director for Lipodystrophy United and patient, discusses her diagnostic journey with lipodystrophy. Biomarker Validation in Niemann-Pick Disease Type C https://checkrare.com/biomarker-validation-in-niemann-pick-disease-type-c/ Krista Casazza, PhD, co-author of the recent article “Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment” in the Journal of Inherited and Metabolic Disease, discusses biomarker validation in Niemann-Pick disease type C (NPC1). Sophie’s Hope Foundation: A GSD1b Patient Advocacy Organization https://checkrare.com/sophies-hope-foundation-a-gsd1b-patient-advocacy-organization/ Jamas LaFreniere, Founder of Sophie’s Hope Foundation and CURE GSD1b, and Blair Stone-Schneider, Executive Director of Sophie’s Hope Foundation, discuss their patient advocacy organization and starting a natural history study for glycogen storage disease type 1b (GSD1b).