Rare Disease Focus: Metabolic Disorders ++++ ++++

CLINICAL PERSPECTIVES 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). Patient Perspective: Diagnostic Journey and Challenges of Lipodystrophy https://checkrare.com/patient-perspective-diagnostic-journey-and-challenges-of-lipodystrophy/ Christine Coppini, patient with lipodystrophy, discusses her diagnostic journey and challenges she faces living with a rare disease. Long-Term Safety and Efficacy Results of Palopegteriparatide in Patients With Hypoparathyroidism Aliya Aziz Khan, MD, Clinical Professor of Medicine McMaster University and Director of the Calcium Disorder Clinic, discusses long-term safety and efficacy results of palopegteriparatide in patients with hypoparathyroidism. https://checkrare.com/long-term-safety-and-efficacy-results-of-palopegteriparatide-in-patients-with-hypoparathyroidism/ CAHtalyst Clinical Trials in Adults With Congenital Adrenal Hyperplasia Vivian Lin, MD, Executive Medical Director of Medical Affairs at Neurocrine, discusses the CAHtalyst clinical trials in adults with congenital adrenal hyperplasia (CAH). https://checkrare.com/cahtalyst-clinical-trials-in-adults-with-congenital-adrenal-hyperplasia/ Patient Perspective: Diagnostic Journey and Challenges of Lipodystrophy https://checkrare.com/patient-perspective-diagnostic-journey-and-challenges-of-lipodystrophy/ Christine Coppini, patient with lipodystrophy, discusses her diagnostic journey and challenges she faces living with a rare disease.