Challenges
Experts share their insights in diagnosing and managing rare conditions
Fibromuscular Dysplasia (FMD) Overview
Jeffrey W Olin, DO is a Professor of Medicine at the Icahn School of Medicine at Mount Sinai, provides an overview of fibromuscular dysplasia (FMD), a rare condition characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow.
Approved and Emerging Therapies for Mucopolysaccharidoses (MPS)
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the approved and emerging therapies for mucopolysaccharidoses (MPSs), a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.
FDA Approves Otezla for Oral Ulcers Associated With Behçet’s disease
The FDA approved apremilast for the treatment of adult patients with oral ulcers associated with Behçet’s disease, a rare chronic multisystem inflammatory disease. The FDA based its approval on the RELIEF study, a phase 3 randomized, double-blind, placebo-controlled...
Lynn O’Connor Vos Discusses the Muscular Dystrophy Association
Lynn O’Connor Vos, President and Chief Executive Officer at the Muscular Dystrophy Association, discusses her organization and it’s approach to funding research to accelerate treatments and cures across the full spectrum of neuromuscular diseases.
Typical Physical Features Across All SubTypes of Mucopolysaccharidoses (MPSs)
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the typical physician features across all subtypes of ,mucopolysaccharidoses (MPSs), a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.
Peter Saltonstall Discusses the Orphan Drug Act
Peter Saltonstall, President and Chief Executive Officer of the National Organization for Rare Disorders (NORD), discusses his organization’s position on the Orphan Drug Act.
FDA Grants Orphan Drug Status to Hunter Syndrome Candidate
The FDA has granted orphan drug status and a rare pediatric disease designation to Denali Therapeutics pipeline candidate, DNL310.
2030 Goal: Universal Health Coverage for Rare Diseases
Rare Disease International (RDI) is a global alliance of rare disease patient organizations designed to be an international voice for the rare disease community. One of its key initiatives is to include rare diseases in the Universal Health Coverage being developed by the United Nations (UN) for the year 2030.
FDA Fast Track Designation for Gene Therapy in CLN1 Disease (Infantile Batten disease)
The U.S. Food and Drug Administration (FDA) has granted Fast Track designation to a novel one-time AAV9 gene therapy for CLN1 disease.
Mucopolysaccharidosis type IV (MPS IV or Morquio Disease)
Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of Mucopolysaccharidosis type IV (MPS IV) or Morquio disease.