Rare Disease News, Insight, and Clinical Perspective +++++ +++++ +

FEATURED ARTICLES Neuroblastoma: Beat Childhood Cancer Research Consortium https://checkrare.com/neuroblastoma-beat-childhood-cancer-research-consortium/ Giselle Saulnier Sholler, MD, Division Chief for Pediatric Hematology/Oncology at Penn State University and Founder of the Beat Childhood Cancer Research Consortium, discusses the organization’s work in neuroblastoma. Neuroblastoma: New Approaches to Neuroblastoma Consortium https://checkrare.com/neuroblastoma-new-approaches-to-neuroblastoma-consortium/ Araz Marachelian, MD, Pediatric Oncologist at Children’s Hospital Los Angeles, discusses the New Approaches to Neuroblastoma (NANT) Consortium and its work in neuroblastoma. Watch the DAYBUE® (trofinetide) in Practice Video Series to Hear Expert Insights on the First Treatment for This Rare Disease https://checkrare.com/watch-the-daybue-trofinetide-in-practice-video-series-to-hear-expert-insights-2/ 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). Neuroblastoma: The Children’s Oncology Group https://checkrare.com/neuroblastoma-the-childrens-oncology-group/ Navin Pinto, MD, Professor of Pediatrics at the University of Colorado Anschutz Medical Campus and Colorado Children’s Hospital, discusses the Children’s Oncology Group and their work in neuroblastoma. 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. Cutaneous T-Cell Lymphoma: Natural History and the Need for Better Diagnostic and Treatment Efficacy https://checkrare.com/cutaneous-t-cell-lymphoma-natural-history-and-the-need-for-better-diagnostic-and-treatment-efficacy/ Henry Wong, MD, PhD, Dermatologist at the San Diego Veterans Hospital and the University of California San Diego (UCSD), discusses cutaneous T-cell lymphoma (CTCL). Chronic Myeloid Leukemia: Diagnosis and Treatment https://checkrare.com/chronic-myeloid-leukemia-diagnosis-and-treatment/ Michael Mauro, MD, Director of the Chronic Myeloid Leukemia Program at Memorial Sloan Kettering Cancer Center, discusses the diagnosis and treatment of chronic myeloid leukemia (CML). Cutaneous T-Cell Lymphoma: Overview, Management, and Quality-of-Life https://checkrare.com/cutaneous-t-cell-lymphoma-overview-management-and-quality-of-life/ Neha Mehta-Shah, MD, Medical Oncologist at Washington University St. Louis, provides an overview of cutaneous T-cell lymphoma (CTCL), discusses management options, and addresses quality-of-life concerns. 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.