Rett syndrome thought leaders discuss how DAYBUE™ (trofinetide), the first and only FDA-approved treatment for Rett syndrome in adults and pediatric patients 2 years of age and older, plays a role in their patients’ treatment plans, while shedding light on their personal experiences with DAYBUE in their practices.
The U.S. FDA has approved belzutifan for patients with locally advanced, unresectable or metastatic pheochromocytoma or paraganglioma.
Neuroblastoma is a rare childhood cancer characterized by a neuroendocrine tumor originating in neuroblasts or neural crest progenitor cells.
Norman Putzki, MD, Novartis, discusses positive safety and efficacy data for OAV101 IT, an investigational gene therapy for SMA.
Dr. Sonal Kumar, discusses the integral role of the patient voice in navigating disease progression and determining an individualized care plan for people living with…
Gavin Lindberg details his family’s experience with neuroblastoma, provides advice to families, and discusses the EVAN Foundation.
Tenosynovial giant cell tumor (TGCT) is a rare benign tumor involving the joint synovium, bursae, and tendon sheath.
Daniel DeFabio, Global Genes and rare disease father, discusses Global Genes’ patient and advocate initiatives.
Sonia Gobeil, discusses their organization and ongoing research for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Jean Elwing discusses PAH research leading to better management of people with Pulmonary Arterial Hypertension
Drs. Patrick McKiernan and Nadia Ovchinsky discuss the recently published guidance on best practices to diagnose, treat, and monitor patients with progressive familial intrahepatic cholestasis…
