CLINICAL PERSPECTIVES +... (17)

CLINICAL PERSPECTIVES 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). Treating Rare Lung Cancer (ROS-1 Positive NSCLC) With Taletrectinib https://checkrare.com/treating-rare-lung-cancer-ros-1-positive-nsclc-with-taletrectinib/ Geoffrey Liu, MD, Senior Scientist at the Princess Margaret Cancer Centre at the University of Toronto, discusses new data on the treatment of ROS1-positive non-small cell lung cancer (NSCLC) with taletrectinib. 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). New Staging Tool for Cutaneous T-cell Lymphoma (PROBEinCTCL) https://checkrare.com/new-staging-tool-for-cutaneous-t-cell-lymphoma-probeinctcl/ Greg Palko, Vice President and Oncology Franchise Head of Kyowa Kirin North America, discusses a new cutaneous T-cell lymphoma (CTCL) Staging Tool. 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). 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). Radiopharmaceutical Treatment for Neuroendocrine Tumors https://checkrare.com/radiopharmaceutical-treatment-for-neuroendocrine-tumors/ Erik Mittra, MD, PhD, Professor of Diagnostic Radiology Oregon Health and Science University, discusses neuroendocrine tumors. Patient Perspective: Diagnostic Journey and Challenges of Lipodystrophy https://checkrare.com/patient-perspective-diagnostic-journey-and-challenges-of-lipodystrophy/ Christine Coppini, patient with lipodystrophy, discusses her diagnostic journey and challenges she faces living with a rare disease. 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).