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FEATURED ARTICLES Clinical Features and Early Identification of Prader-Willi Syndrome https://checkrare.com/clinical-features-and-early-identification-of-prader-willi-syndrome/ Merlin G. Butler, MD, Medical Geneticist and Professor, Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, and one of the pioneers in Prader–Willi syndrome research, discusses the clinical features of this very rare disease and the critical importance of early identification. Results of the Phase 2 PIONEER Study in Patients With Systemic Mastocytosis https://checkrare.com/results-of-the-phase-2-pioneer-study-in-patients-with-systemic-mastocytosis/ Cem Akin, MD, PhD, Professor, Allergy and Immunology at the University of Michigan, discusses with CheckRare systemic mastocytosis, and the results of the phase 2 PIONEER study, which tested the tyrosine-kinase inhibitor avapritinib (Ayvakit) against placebo in symptomatic patients. SMA in Focus: Practical Insights from MDA 2026 https://checkrare.com/sma-in-focus-practical-insights-from-mda-2026/ Key data updates, therapeutic strategies, and evolving standards of care in spinal muscular atrophy from MDA 2026. Type 1 Plasminogen Deficiency Overview https://checkrare.com/type-1-plasminogen-deficiency-overview/ Amy Shapiro, MD, a pediatric hematologist and the Medical Director and CEO of the Indiana Hemophilia and Thrombosis Center in Indianapolis, provides CheckRare an overview on type 1 plasminogen deficiency (PLGD-1). Current Status of Gene Therapies in Rare Neuromuscular Disorders https://checkrare.com/current-status-of-gene-therapy-in-rare-neuromuscular-disorders/ Alan Beggs, PhD and Julie A Parsons, MD, discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. Current Status of Gene Therapy in Lysosomal Storage Disorders https://checkrare.com/current-status-of-gene-therapy-in-lysosomal-storage-disorders/ Nicola Longo MD, PhD and Mark Roberts, MD discuss the current status of gene therapies in lysosomal storage disorders. Catching the Clues, Changing the Course of Lysosomal Storage Disorders https://checkrare.com/catching-the-clues-changing-the-course-of-lysosomal-storage-disorders/ Yoshikatsu Eto, MD, PhD, Nicole Muschol, MD, Patrício Aguiar, MD, and Robert Hopkin, MD, explore the patient journey across the lysosomal storage disorder (LSD) continuum, focusing on persistent gaps in recognition, diagnosis, timely treatment initiation, and long-term care. The Genetics of Epilepsy: The Importance of Identifying Underlying Causes https://checkrare.com/the-genetics-of-epilepsy-the-importance-of-identifying-underlying-causes/ Isabella Herman, MD, PhD, and Tara Adams, mother of two daughters with epilepsy, discuss the challenges of accurate diagnosis and treatment in epilepsy. Updates in IPF Chronic Cough From CHEST 2025 https://checkrare.com/updates-in-ipf-chronic-cough-from-chest-2025/ Philip Molyneaux, MD, PhD, a Professor of Interstitial Lung Disease (ILD) at Imperial College London and the Asthma+Lung UK Chair of Respiratory Research at Royal Brompton Hospital, where is also the Director of the UK National Institute for Health and Care Research (NIHR) Clinical Research Facility, discusses the results of the CORAL study. Watch the DAYBUE® (trofinetide) in Practice Video Series to Hear Expert Insights on the First Treatment for This Rare Disease No Results Found 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. Updates in Refractory Chronic Cough From ERS 2025 https://checkrare.com/updates-in-refractory-chronic-cough-from-ers-2025/ Jacky Smith, MB, ChB, FRCP, PhD, Chair of Respiratory Medicine at the University of Manchester, discusses topline results from the phase 2a RIVER trial for patients with refractory chronic cough (RCC). Survey Finds Wide-Ranging Impact of X-Linked Hypophosphatemia (XLH) on Patient Experiences https://checkrare.com/survey-finds-wide-ranging-impact-of-x-linked-hypophosphatemia-on-patient-experiences/ Al Freedman, PhD, Rare Disease Psychologist and Rare Dad, and Jill H. Simmons, MD, Endocrinologist at Vanderbilt University Medical Center in Nashville, Tennessee discuss the XLH Community Impact Survey and mental health in rare diseases. New Staging Tool Available for Healthcare Providers Treating Patients With CTCL https://checkrare.com/new-staging-tool-available-for-healthcare-providers-treating-patients-with-ctcl/ Pamela Blair Allen, MD, MSc, Hematologist, discusses the new CTCL Staging Tool. A New Test for Patient-Reporting of Mastocytosis Control https://checkrare.com/a-new-test-for-patient-reporting-of-mastocytosis-control/ A team of allergists, immunologists, and dermatologists sought to test a new patient-reported outcomes measure for assessing mastocytosis disease control. Their newly developed tool, called the Mastocytosis Control Test (MCT), was generated through interviews with adult patients with nonadvanced indolent systemic mastocytosis.