CLINICAL PERSPECTIVES: ++++++++ Rare Disease Focus: Musculoskeletal Diseases

CLINICAL PERSPECTIVES Implications of Nipocalimab Approval on Pediatric Patients With Myasthenia Gravis https://checkrare.com/implications-of-nipocalimab-approval-on-pediatric-patients-with-myasthenia-gravis/ Jonathan Strober, MD, Director of the Neuromuscular Clinic and Professor of Pediatrics and Neurology at the University of California at San Francisco, discusses the implications of nipocalimab’s approval to treat pediatric patients with myasthenia gravis (MG). New Data From EMBARK Study in Patients With Duchenne Muscular Dystrophy Receiving Gene Therapy https://checkrare.com/new-data-from-embark-study-in-patients-with-duchenne-muscular-dystrophy-receiving-gene-therapy/ Aravindhan Veerapandiyan, MD, Pediatric Neuromuscular Neurologist at Arkansas Children’s Hospital, discusses new data from the EMBARK part 2 study of Elevidys (delandistrogene moxeparvovec) in patients with Duchenne muscular dystrophy (DMD). Evolving Policy Landscapes for Rare Disease Access https://checkrare.com/evolving-policy-landscapes-for-rare-disease-access/ Deb Jennings, Head of North America Patient Services Operations at Kyowa Kirin, discusses evolving policy landscapes for rare disease access. The Role of Mental Health in Rare Disease Patient Outcomes https://checkrare.com/the-role-of-mental-health-in-rare-disease-patient-outcomes/ Sumira Riaz, PhD, Health Psychologist & Patient Engagement Consultant at Unboxed Psychology, discusses the role of mental health in rare disease patient outcomes. Current Challenges Facing the ALS and FTD Communities https://checkrare.com/current-challenges-facing-the-als-and-ftd-communities/ Jean Swidler, Executive Director for End The Legacy, discusses current challenges facing the amyotrophic lateral sclerosis (ALS) and frontotemporal dementias (FTD) communities. Patient Advocacy in CACNA1A-Related Disorders https://checkrare.com/patient-advocacy-in-cacna1a-related-disorders/ Pangkong Fox, PhD, Science Engagement Director at the CACNA1A Foundation and rare disease mom, discusses patient advocacy in CACNA1A-related disorders. Disease Severity and Progression in Patients With ENPP1 Deficiency https://checkrare.com/disease-severity-and-progression-in-patients-with-enpp1-deficiency/ Matt Winton, PhD, Senior Vice President and Chief Operating Officer of Inozyme Pharma, discusses results from an analysis characterizing disease severity and progression in patients with ENPP1 deficiency. The Undiagnosed Disease Network https://checkrare.com/the-undiagnosed-disease-network/ Kimberly LeBlanc, Genetic Counselor, Director of the Undiagnosed Diseases Network (UDN) Coordinating Center at Harvard Medical School, discusses approaching variants of uncertain significance in rare diseases.