Week 52 Results of TransCon CNP (Navepegritide) in Children With Achondroplasia +... +++++ +++++

CLINICAL PERSPECTIVE https://checkrare.com/ Efficacy of Pozelimab + Cemdisiran To Treat Paroxysmal Nocturnal Hemoglobinuria https://checkrare.com/efficacy-of-pozelimab-cemdisiran-to-treat-paroxysmal-nocturnal-hemoglobinuria/ Jun Ho Jang, MD, PhD, Professor, Division of Hematology-Oncology at Samsung Medical Center, discusses results from an open-label extension study testing pozelimab plus cemdisiran combination therapy in patients with paroxysmal nocturnal hemoglobinuria (PNH), who previously received the combination therapy or received ravulizumab. Duchenne Muscular Dystrophy (DMD) and Metachromatic Leukodystrophy (MLD) Recommended Uniform Screening Panel https://checkrare.com/duchenne-muscular-dystrophy-dmd-and-metachromatic-leukodystrophy-mld-recommended-uniform-screening-panel/ The U.S. Department of Health and Human Services (HHS) has approved the addition of Duchenne muscular dystrophy (DMD) and metachromatic leukodystrophy (MLD) to the Recommended Uniform Screening Panel (RUSP). Results of the BUTTERFLY Clinical Trial in Pediatric Patients With Dravet Syndrome https://checkrare.com/results-of-the-butterfly-clinical-trial-in-pediatric-patients-with-dravet-syndrome/ Joseph Sullivan, MD, Professor of Neurology and Pediatrics at the University of California at San Francisco, discusses the results of the BUTTERFLY clinical trial in pediatric patients with Dravet syndrome. Phase 3 Data of Vonvendi for the Treatment of Von Willebrand Disease https://checkrare.com/phase-3-data-of-vonvendi-for-the-treatment-of-von-willebrand-disease/ Shayla Bergmann, MD, Pediatric Hematologist/Oncologist at the Medical University of South Carolina, discusses phase 3 data of Vonvendi for the treatment of Von Willebrand disease (VWD). Broader Dosing Ranges of Skytrofa Now Available for Growth Hormone Deficiency https://checkrare.com/broader-dosing-ranges-of-skytrofa-now-available-for-growth-hormone-deficiency/ Lisa Abbott, MD, endocrinologist with Northern Nevada Endocrinology, discusses the expansion of broader dosing ranges of Skytrofa (lonapegsomatropin) now available for the replacement of endogenous growth hormone in adults with growth hormone deficiency (GHD). Sotatercept for Pulmonary Arterial Hypertension Within the First Year After Diagnosis https://checkrare.com/sotatercept-for-pulmonary-arterial-hypertension-within-the-first-year-after-diagnosis/ A recent study, published in the New England Journal of Medicine, looked at the effects of sotatercept for pulmonary arterial hypertension (PAH) within the first year after diagnosis. Long-Term Data With Dawnzera for the Treatment of Hereditary Angioedema https://checkrare.com/long-term-data-with-dawnzera-for-the-treatment-of-hereditary-angioedema/ Michael Manning, MD, Allergist and Immunologist, discusses long-term data with Dawnzera (donidalorsen) for the treatment of patients with hereditary angioedema (HAE). Effects of Vutrisiran on Cardiac Structure and Function in Patients With Transthyretin Amyloisdosis With Cardiomyopathy https://checkrare.com/effects-of-vutrisiran-on-cardiac-structure-and-function-in-patients-with-transthyretin-amyloidosis-with-cardiomyopathy/ A recent study, published in Nature Medicine, looked at the effects of vutrisiran on cardiac structure and function in patients with transthyretin amyloidosis with cardiomyopathy (ATTR-CM) through a secondary analysis of the HELIOS-B clinical trial. Kygevvi for Patients With Thymidine Kinase 2 Deficiency https://checkrare.com/kygevvi-for-patients-with-thymidine-kinase-2-deficiency/ Kim Moran, Head of U.S. Rare Diseases at UCB, discusses the approval of Kygevvi (doxecitine and doxribtimine) for patients with thymidine kinase 2 deficiency (TK2d). 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). A Patient’s Diagnostic Journey With Systemic Mastocytosis https://checkrare.com/a-patients-diagnostic-journey-with-systemic-mastocytosis/ Joan Smith, patient with systemic mastocytosis, discusses her diagnostic journey with systemic mastocytosis (SM). Results from the ElevAATe Clinical Trial of Efdoralprin Alfa for Patients With AAT Deficiency https://checkrare.com/results-from-the-elevaate-clinical-trial-of-efdoralprin-alfa-for-patients-with-aat-deficiency/ Alaa Hamed, MD, Global Head of Medical Affairs Rare Diseases at Sanofi, discusses results from the ElevAATe clinical trial of efdoralprin alfa for the treatment of patients with alpha-1 antitrypsin deficiency (AATD).