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. Approval of Treatment for Patients With Familial Chylomicronemia Syndrome (FCS) https://checkrare.com/approval-of-treatment-for-patients-with-familial-chylomicronemia-syndrome-fcs/ The U.S. FDA has approved Redemplo (plozasiran) for the treatment of adult patients with familial chylomicronemia syndrome (FCS). CLINICAL PERSPECTIVES Positive Topline Results from the CALIBRATE Trial of Encaleret in Patients With Autosomal Dominant Hypocalcemia Type 1 https://checkrare.com/positive-topline-results-from-the-calibrate-trial-of-encaleret-in-patients-with-autosomal-dominant-hypocalcemia-type-1/ Michael A. Levine, MD, ML, Children’s Hospital of Philadelphia, discusses positive topline results from the CALIBRATE trial of encaleret in patients with autosomal dominant hypocalcemia type 1 (ADH1). Ongoing Phase 3 Study of Paltusotine in Carcinoid Syndrome Due to Neuroendocrine Tumors https://checkrare.com/ongoing-phase-3-study-of-paltusotine-in-carcinoid-syndrome-due-to-neuroendocrine-tumors/ Aman Chauhan, MD, Oncologist at the University of Miami, discusses details of a phase 3 study testing paltusotine in patients with carcinoid syndrome due to neuroendocrine tumors (NETs). 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. RARE DISEASE LEARNING CENTERS Hypoparathyroidism https://checkrare.com/hypoparathyroidism/ Hypoparathyroidism is a rare endocrine disorder characterized by a deficiency of parathyroid hormone (PTH), which leads to decreased serum calcium and increased phosphorus levels in the blood. Arginine Vasopressin (AVP) Deficiency https://checkrare.com/arginine-vasopressin-avp-deficiency/ Arginine vasopressin (AVP) deficiency is a rare neuroendocrine disorder caused by the loss or impaired function of vasopressinergic neurons in the hypothalamus and posterior pituitary gland. This results in impaired synthesis and secretion of AVP.