Rare Disease Focus: Endocrine Disorders + +++ ++++++++

FEATURED 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. FDA NEWS 2025 Orphan Drugs: PDUFA Dates and FDA Approvals https://checkrare.com/2025-orphan-drugs-pdufa-dates-and-fda-approvals/ Rare diseases and orphan drugs are at the forefront of novel development and groundbreaking research. Almost half of all novel medications approved by the U.S. Food and Drug Administration (FDA) are orphan drugs. Below is the list of important regulatory dates for all orphan drugs for 2025 . FDA Extends Evinacumab Indication to Include Patients With HoFH Ages 1 to 5 Years https://checkrare.com/fda-extends-evinacumab-indication-to-include-patients-with-hofh-ages-1-to-5-years/ The U.S. FDA has approved Evkeeza (evinacumab-dgnb) for the treatment of children ages 1 to 5 years old with homozygous familial hypercholesterolemia (HoFH), supplemental to diet, exercise, and other lipid-lowering therapies. FDA Approves Paltusotine for Treatment of Adults With Acromegaly https://checkrare.com/fda-approves-paltusotine-for-treatment-of-adults-with-acromegaly/ The U.S. FDA has approved Palsonify (paltusotine) for the first-line treatment of adults with acromegaly with inadequate response to surgery and/or for whom surgery is not an option. CLINICAL PERSPECTIVES Diagnosis and Management of Hypoparathyroidism https://checkrare.com/diagnosis-and-management-of-hypoparathyroidism/ Michelle Reyes, Associate Director of the HypoPARAthyroidism Association and patient, discusses the diagnosis and management of hypoparathyroidism. Patient Perspective: Lipodystrophy Diagnostic Journey https://checkrare.com/patient-perspective-lipodystrophy-diagnostic-journey/ Sharon Halperin, Research Director for Lipodystrophy United and patient, discusses her diagnostic journey with lipodystrophy. Daily Symptom Burden of Hypoparathyroidism https://checkrare.com/daily-symptom-burden-of-hypoparathyroidism/ Patty Keating, Executive Director of the HypoPARAthyroidism Association and patient, discusses the daily symptom burden of hypoparathyroidism. CAHtalyst Clinical Trials in Adults With Congenital Adrenal Hyperplasia https://checkrare.com/cahtalyst-clinical-trials-in-adults-with-congenital-adrenal-hyperplasia/ Vivian Lin, MD, Executive Medical Director of Medical Affairs at Neurocrine, discusses the CAHtalyst clinical trials in adults with congenital adrenal hyperplasia (CAH). Unmet Needs of Patients With Cushing’s Syndrome https://checkrare.com/unmet-needs-of-patients-with-cushings-syndrome/ Alessandro Albuquerque, MD, PhD, Chief Medical Officer of Recordati Rare Diseases North America, discusses unmet needs of patients with Cushing’s syndrome. Trends and Social Determinants of Teprotumumab in Thyroid Eye Disease https://checkrare.com/trends-and-social-determinants-of-teprotumumab-in-thyroid-eye-disease/ Jui-En Lo, MD, Resident of Internal Medicine at MetroHealth, discusses trends and social determinants of teprotumumab in thyroid eye disease (TED). Long-Term Safety and Efficacy Results of Palopegteriparatide in Patients With Hypoparathyroidism https://checkrare.com/long-term-safety-and-efficacy-results-of-palopegteriparatide-in-patients-with-hypoparathyroidism/ Aliya Aziz Khan, MD, Clinical Professor of Medicine McMaster University and Director of the Calcium Disorder Clinic, discusses long-term safety and efficacy results of palopegteriparatide in patients with hypoparathyroidism. Case Report: Alemtuzumab-Induced Thyroid Eye Disease https://checkrare.com/case-report-alemtuzumab-induced-thyroid-eye-disease/ Shaishav Dhage, MD, Endocrinologist at The Christie Hospital, discusses a case report on a patient with alemtuzumab-induced thyroid eye disease (TED).