Rare and Genetic Disease Network
Featured
Orphan Drug Development, Pricing, and Access
Dennis Jackman, Senior Vice President, Public Affairs at CSL Behring discusses rare disease drug pricing, patient involvement in the drug development process, and drug access.
Ixazomib Monotherapy in Multiple Myeloma Phase III Study Meets Primary Endpoint
New data from a phase III clinical trial may indicate that a drug used in combination therapy for multiple myeloma may be effective as a single-agent therapy.
Thyroid Eye Disease: Incidence and Treatment
Gary Joseph Lelli, MD, of the Department of Ophthalmology at Weill Cornell Medicine talks about the incidence and treatment options for thyroid eye disease due to Graves’ disease.
Hemophilia Alliance: The Original Managed Care Plan
Joe Pugliese discusses the Hemophilia Alliance, a not-for-profit organization of federally funded hemophilia treatment centers that is working to ensure its member have the expertise, resources and public support to sustain their integrated clinical and pharmacy services for persons with hemophilia and other bleeding disorders.
Phase 1b Clinical Trial Initiated for the Treatment of Severe Congenital Neutropenia
Clinical-stage biopharma company X4 Pharmaceuticals announced the initiation of a Phase 1b clinical trial of mavorixafor (X4P-001) for the treatment of Severe Congenital Neutropenia (SCN), a group of rare blood disorders characterized by abnormally low levels of neutrophils.
Tenosynovial Giant Cell Tumor (TGCT)
Tenosynovial giant cell tumor (TGCT) is a benign tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).
Getting Patient Groups, Researchers, and Industry to Share Data
Femida Gwady-Sridhar, PhD, founder of Pulse Infoframe talks about the need for better collaboration between patient groups and researchers in regard to collecting and using data more effectively and efficiently.
Ehlers-Danlos Syndrome: “It Hit Like a Tornado”
Patricia Weltin of Beyond the Diagnosis talks about Elhers-Danlos syndrome, a rare disease that afflicts two of her daughters.
Patient Advocacy Certificate Training
David Pearce, PhD, of the Coordination of Rare Diseases at Sanford (CoRDS) talks about their patient advocacy conference held in Sioux Falls, SD.
An Oral Film to Treat Lennox-Gastaut Disease
Daniel Barber is chief operating officer at Aquestive Therapeutics, a specialty pharmacy company that is highly focused on providing treatment options for persons unable to properly swallow medicine (e.g., people with epilepsy, ALS, Parkinson’s, etc).
FDA Reviewing Drug Application for Neuromyelitis Optica
The U.S. Food and Drug Administration (FDA) has accepted Genentech’s Biologics License Application (BLA) for satralizumab to treat of adults and adolescents with neuromyelitis optica spectrum disorder (NMOSD).
Diagnosing Congenital Hyperinsulinism
Julie Raskin, Executive Director of Congenital Hyperinsulinism International (CHI) explains how congenital hyperinsulism is diagnosed and the latest research is underway to improve how it is diagnosed and understood.
Special Reports
Tenosynovial Giant Cell Tumor (TGCT)
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
Mucopolysaccharidosis (MPS) Resource Center
Overview of the Mucopolysaccharidoses
Rare in Common Podcast
American Society of Hematology Conference Coverage
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
Rare Disease Diagnosis: Huntington’s Disease
Tenosynovial Giant Cell Tumor (TGCT)
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
Mucopolysaccharidosis (MPS) Resource Center
Overview of the Mucopolysaccharidoses
Rare in Common Podcast
American Society of Hematology Conference Coverage
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
