News, Interviews, and expert insight into the latest research relevant to rare metabolic disorders.
Fernanda Leal-Pardinas, MD, MSc, Global Clinical Development Lead, Rare & Metabolic Disorders at Otsuka Pharmaceutical, discusses the open-label extension data from their study testing repinatrabit for patients with phenylketonuria (PKU). PKU is a...
Stacey Kallish, MD, Clinical Geneticist at Penn Medicine in Philadelphia, is helping to lead a new wave of innovation at the intersection of artificial intelligence (AI) and rare disease care.
The treatment landscape for Fabry disease, a rare, progressive lysosomal disorder characterized by α-galactosidase A deficiency that impacts multipe sytems in the body, is evolving. In this expert-led discussion, faculty explored how rational drug design is translating into meaningful clinical impact, with a focus on pegunigalsidase alfa and its emerging role in patient care.
Jennifer Ibrahim, Head of North America, Rare Disease Medical Affairs at Sanofi, discusses the Breakthrough Therapy designation of venglustat for the treatment of neurological manifestations in Gaucher disease type 3 (GD3).
Stevie Ringel, CEO of Nome Therapeutics, discusses the US Food and Drug Administration’s (FDA) Plausible Mechanism Framework and its effect on rare disease therapy development. On...
Jack Johnson, Co-Founder and Executive Director of Fabry Support and Information Group (FSIG), discusses the organization’s 30 year anniversary. Fabry disease is a rare lysosomal storage disease...
Sponsored and written by Chiesi USA based on interviews with Jeff, a Chiesi Patient Ambassador for Elfabrio® (pegunigalsidase alfa-iwxj), and published with his express permission. Jeff has been...
The US Food and Drug Administration (FDA) has granted accelerated approval to Avlayah (tividenofusp alfa) for the treatment of neurologic manifestations of Hunter syndrome (MPS II). This is the...
Early Screening and Treatment Effects on Motor Function in SMA CheckRare conducted a joint interview with two key opinion leaders in spinal muscular atrophy (SMA), Kristin J. Krosschell, DPT, MA,...
The US Food and Drug Administration (FDA) has approved Juxtapid (lomitapide) capsules for the treatment of pediatric patients ages 2 years and older with homozygous familial hypercholesterolemia...
The US Food and Drug Administration (FDA) has approved Wellcovorin (leucovorin calcium) tablets for the treatment of adult and pediatric patients with cerebral folate deficiency (CFD) with confirmed...
Brian Bigger, PhD, Professor of Advanced Therapeutics at the University of Edinburgh, discusses hematopoietic stem cell gene therapy (HSCGT) in patients with mucopolysaccharidosis IIIA (MPS IIIA;...
Amel Karaa, MD, Genetics and General Metabolism, Director of the Mitochondrial Disease Program at Massachusetts General Hospital, discusses the PRIZM clinical trial of zagociguat in patients with...
Rachele Berria, MD, PhD, Senior Vice President, Head of Global Medical Affairs at Chiesi Rare Diseases, gives an overview of the company’s highlights at WORLDSymposia 2026. According...
Kristin McKay, President and Executive Director of Project Alive, discusses the real-world perspective on daily challenges of living with mucopolysaccharides II (MPS II). MPS II is an...
Brian Bigger, PhD, Professor of Advanced Therapeutics at the University of Edinburgh, discusses the first-in-human experience of autologous hematopoietic stem cell gene therapy (HSCGT) using a novel...
Dawn Laney, MS, Genetic Counselor at Emory University School of Medicine, discusses the challenges and unmet needs of female patients with Fabry disease. Fabry disease is a type of lysosomal...
John Taggart, Head of Communications at Niemann-Pick UK (NPUK), discusses the ASMD Perspective Index and its use in diagnosing Niemann-Pick disease. Niemann-Pick disease is an inherited...
Bob Stevens, Group CEO of the MPS Society and Rare Disease Research Partners in the UK, discusses global efforts towards developing treatment options for patients with rare lysosomal storage...
The US Food and Drug Administration (FDA) has approved the supplemental Biologics License Application for Palynziq (pegvaliase-pqpz) to include pediatric patients ages 12 years and older with...
Karen Bean, Health Economist at Orchard Therapeutics, discusses healthcare resource use for patients with Mucopolysaccharidosis type III (MPS III). MPS III, also known as Sanfilippo...
Ida Vanessa D. Schwartz, MD, PhD, HCPA, Professor of Genetics at the Federal University of Rio Grande do Sul, discusses two-year follow up from GALILEO-1 of FLT201 gene therapy in adults with...
Kim Stephens, DBA, Executive Director of the Muenzer MPS Research & Treatment Center, discusses a survey of clinical guidelines for mucopolysaccharidosis II (MPS 2; Hunter syndrome). ...
The US Food and Drug Administration (FDA) has granted accelerated approval to Loargys (pegzilarginase-nbln) for the treatment of patients ages 2 years and older with arginase 1 deficiency (ARG1-D)....
Rational Design Meets Real-World Relevance: Pegunigalsidase Alfa in the Treatment of Fabry Disease
In this expert-led discussion, pegunigalsidase alfa in the treatment of Fabry disease explore and its emerging role in patient care.
CheckRare
August 14, 2015 8:46 am