ChallengesExperts share their insights in diagnosing and managing rare conditions
- Peter Saltonstall: Our Payor System for Drugs Needs to Be Updated
Peter Saltonstall, President and Chief Executive Officer of the National Organization for Rare Disorders (NORD), discusses how our current drug payer system has not kept up with the science of medicine.
- Dup15q Alliance and Syndrome
Vanessa Vogel-Farley, Executive Director of Dup15q Alliance discusses her organization, which provides family support and promotes awareness, research and targeted treatments for chromosome 15q11.2-13.1 duplication syndrome.
- FDA Gants Orphan Drug Designation for LB-001 for the Treatment of Methylmalonic Acidemia
The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to LB-001, a recombinant adeno-associated viral vector with human methylmalonyl-COA mutase (MUT) gene for the treatment of methylmalonic acidemia (MMA).
- Mucopolysaccharidoses: Current Therapies Offer Hope, but More Effective Treatments Are Needed
Heather A. Lau, MD at NYU Langone Health, discusses some of the treatment options for individuals with mucopolysaccharidoses (MPSs). Other than supportive treatments, current therapeutic options include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation.
- Kristen Wheeden: American Porphyria Foundation and Disease Overview
Kristen Wheeden, Director of Development for the American Porphyria Foundation, provides an overview of her foundation and this rare disease.
- Overview of the Office of Rare Diseases Research
Anne R. Pariser, MD, Director of the Office of Rare Diseases Research, National Center for Advancing Translational Sciences at the NIH provides an overview of the Office of Rare Diseases Research at the NIH.
- Arndt Rolfs of Centogene Discusses the Challenges of Diagnosing Rare Diseases
Arndt Rolfs, MD, Chief Executive Officer of Centogene, discusses the challenges of diagnosing rare diseases. Dr. Rolfs tells the story of his early days of practicing medicine. While on vacation, he came across an article in the newspaper on a disease he had never heard of before.
- The Promise of Gene Therapy and the Challenges of Payment Structures
Jeff Ajer, Executive Vice President and Chief Commercial Officer of BioMarin, discusses gene therapy. The development of these transformative therapies has triggered discussions about market access challenges, the viability of alternative financing mechanisms, and the results for patient access.
- Peter Saltonstall of NORD Discusses Drug Pricing Challenges
Peter Saltonstall, President and Chief Executive Officer of the National Organization for Rare Disorders (NORD) discusses some of the challenges facing the rare disease community, including the perception that drug pricing for orphan drugs is a driving force behind rising drug prices.
- FDA Grants Fast Track and Orphan Drug Designations For Myelodysplastic Syndrome
The Food and Drug Administration (FDA) granted fast track designation to APR-246 for the treatment of patients with myelodysplastic syndrome who have TP53 mutations.