Rare Disease Focus: Congenital and Genetic Conditions (++++ ++++) +...

CLINICAL PERSPECTIVE Sophie’s Hope Foundation: A GSD1b Patient Advocacy Organization https://checkrare.com/sophies-hope-foundation-a-gsd1b-patient-advocacy-organization/ Jamas LaFreniere, Founder of Sophie’s Hope Foundation and CURE GSD1b, and Blair Stone-Schneider, Executive Director of Sophie’s Hope Foundation, discuss their patient advocacy organization and starting a natural history study for glycogen storage disease type 1b (GSD1b). Treating NF1-PN With Mirdametinib https://checkrare.com/treating-nf1-pn-with-mirdametinib/ Phioanh Leia Nghiemphu, MD, Professor of Clinical Neurology at University of California Los Angeles, discusses the use of mirdametinib for neurofibromatosis type 1 with symptomatic plexiform neurofibromas (NF1-PN). Long-Term Safety and Efficacy Data on Givinostat for Patients With Duchenne Muscular Dystrophy https://checkrare.com/long-term-safety-and-efficacy-data-on-givinostat-for-patients-with-duchenne-muscular-dystrophy/ Scott Baver, PhD, Vice President of Medical Affairs at ITF Therapeutics, discusses long-term safety and efficacy data on givinostat for patients with Duchenne muscular dystrophy (DMD). 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. 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. What Clinicians Need to Know About Fibrodysplasia Ossificans Progressiva https://checkrare.com/what-clinicians-need-to-know-about-fibrodysplasia-ossificans-progressiva/ Mona Al Mukaddam, MD, Director of the Penn Bone Center at the University of Pennsylvania, discusses fibrodysplasia ossificans progressiva (FOP). Case Report: Patient With Congenital Adrenal Hyperplasia https://checkrare.com/case-report-patient-with-congenital-adrenal-hyperplasia/ Christine Eliazo, Medical Student at Nova Southeastern University, discusses a case report on a patient with congenital adrenal hyperplasia (CAH).