Clinical Insights
Narcolepsy Breakthroughs and Emerging Therapies
Emmanuel Mignot, MD, PhD, is one of the pioneers in the study of narcolepsy and served a vital role in discerning the genetic cause of this rare and underdiagnosed disorder. Dr. Mignot, Professor of Sleep Medicine in the Department of Psychiatry and Behavioral...
Accelerated Approval Granted to Beqalzi (Sonrotoclax) for Mantle Cell Lymphoma
The US Food and Drug Administration (FDA) has granted accelerated approval to Beqalzi (sonrotoclax) for the treatment of adults with relapsed or refractory (R/R) mantle cell lymphoma (MCL) after at least two lines of systemic therapy, including a Bruton’s tyrosine kinase (BTK) inhibitor.
Two-Year Results of Crenessity (Crinecerfont) in the Treatment of Congenital Adrenal Hyperplasia
Richard J. Auchus, MD, PhD, Professor of Internal Medicine and Pharmacology at the University of Michigan Medical School, discusses two-year results of Crenessity (crinecerfont) in the treatment of congenital adrenal hyperplasia (CAH).
Ecopipam as a Treatment for Tourette Syndrome: Phase 3 Clinical Trial Results
Kinga Tomczak, MD, PhD, Program Director of the Tic Disorders and Tourette Syndrome Program at Boston Children’s Hospital and Assistant Professor of Neurology at Harvard Medical School, discusses phase 3 clinical trial results of ecopipam as a treatment for Tourette syndrome.
More
Bizengri (Zenocutuzumab) Approved for NRG1 Fusion-Positive Cholangiocarcinoma Under the FDA’s National Priority Voucher Program
The US Food and Drug Administration (FDA) has approved Bizengri (zenocutuzumab) for the treatment of adults with NRG1 fusion-positive cholangiocarcinoma. Cholangiocarcinoma is a rare, aggressive...
FDA Expands Indication of Vyvgart (Efgartigimod Alfa) for Adults With Seronegative Myasthenia Gravis
The US Food and Drug Administration (FDA) has approved Vyvgart (efgartigimod alfa) and Vyvgart Hytrulo (efgartigimod alfa and hyaluronidase) for the treatment of adult patients who have anti-MuSK-Ab...
New Follow-Up Data of KYV-101 Treatment for Patients With Myasthenia Gravis
Naji Gehchan, MD, MBA, Chief Medical and Development Officer at Kyverna Therapeutics, discusses new follow-up data on KYV-101 treatment for patients with myasthenia gravis (MG). ...
Diagnosis and Management of Plasminogen Deficiency
Amol Sura, MD, Foster Center for Ocular Immunology, Dept of Ophthalmology, Duke University, Durham, North Carolina, discusses the diagnosis and management of plasminogen deficiency, a rare condition...
8-Week Follow-Up Data of RAP-219 for the Treatment of Focal Onset Seizures
William W. Motley, MD, RAP-219 Program Leader at Rapport Therapeutics, discusses follow-up data of RAP-219 for the treatment of focal onset seizures. Focal onset seizures refer to...
GEMZ Clinical Trial of Fenfluramine in Patients With CDKL5 Deficiency Disorder
Brian Moseley, MD, Senior Medical Director at UCB, discusses the GEMZ clinical trial of fenfluramine in patients with CDKL5 deficiency disorder (CDD). CDD is a rare genetic disorder...
CareCompass: Online Tool for Caregivers of Dravet and Lennox-Gastaut Syndrome
Colin Lake, Head of Digital Business Transformation Neurology at UCB, discusses CareCompass, an online tool for caregivers of patients with Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS)....
FDA Approves Extended Release Ruxolitinib for Three Rare Hematologic Disorders
The US Food and Drug Administration (FDA) has approved Jakafi XR (ruxolitinib) extended-release tablets for the treatment of three rare hematologic conditions. The indications include the treatment...
CureFest 2026
Dena Sherwood, mother to a neuroblastoma survivor and Founder of Arms Wide Open Childhood Cancer Foundation, discusses CureFest 2026. Ms. Sherwood and her family founded the Arms Wide...
Positive Results with Cemdisiran, an RNAi Mediated Therapy, in Patients With Myasthenia Gravis
Tuan Vu, MD, Professor, Department of Neurology at the University of South Florida, discusses positive results of cemdisiran in patients with generalized myasthenia gravis (gMG). MG is...
Effects of Rodatrisat Ethyl on Activity in Patients With Pulmonary Arterial Hypertension
A study published in the Annals of the American Thoracic Society analyzed results from the ELEVATE-1 clinical trial testing the effects of rodatristat ethyl on daily activity in patients with...
An Overview of Systemic Mastocytosis
Dareen D. Siri, MD, FAAAAI, FACAAI is a board-certified allergist and immunologist practicing at Midwest Allergy Sinus Asthma, based in central Illinois. She talked with CheckRare about a unique,...
Accelerated Approval Granted to Gene Therapy for Rare Genetic Hearing Loss
The US Food and Drug Administration (FDA) has granted accelerated approval for Otarmeni (lunsotogene parvec) for the treatment of patients with otoferlin (OTOF)-related hearing loss. The indication...
Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated With Velaglucerase Alfa
A study published in the Journal of Clinical Medicine evaluated the improvement of bone mineral density in patients with type 1 Gaucher disease (GD1) treated with velaglucerase alfa. GD1 is the most...
Daybue (Trofinetide) Stix: New Formulation of Treatment for Rett Syndrome
Arthur Beisang, MD, Department of Pediatrics at Gillette Children's Specialty Healthcare in Saint Paul, Minnesota, discusses Daybue (trofinetide) Stix, a new formulation of the treatment for Rett...
Quality of Life in Patients With Pulmonary Arterial Hypertension
A study recently published in Health and Quality of Life Outcomes analyzed quality of life in patients with pulmonary arterial hypertension (PAH). PAH is a rare condition affecting the heart and...
Effect of Uplizna (Inebilizumab) on Ocular Manifestations in Myasthenia Gravis
Richard J. Nowak, MD, global principal MINT investigator and director of the Myasthenia Gravis Clinic at Yale University, discusses a post-hoc analysis of Uplizna (inebilizumab) on the effect of...
Open-Label Extension Data of Repinatrabit for Patients With Phenylketonuria
Fernanda Leal-Pardinas, MD, MSc, Global Clinical Development Lead, Rare & Metabolic Disorders at Otsuka Pharmaceutical, discusses the open-label extension data from their study testing...
Clinical Staging of Hypertrophic Cardiomyopathy in Fabry Disease
A retrospective observational study published in the International Journal of Cardiology evaluated a new clinical staging of hypertrophic cardiomyopathy in Fabry disease. Fabry disease is a...
Clinical Features and Early Identification of Prader-Willi Syndrome
Merlin G. Butler, MD, Medical Geneticist and Professor, Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, and one of the pioneers...
Recent Videos
Social Wall
Improving Patient Outcomes and Quality Of Life in AVP-D
AVP-D Management Advances
AVP-D Traditional Management
AVP-D Diagnostic Challenges
AVP-D Disease Overview and Name Change
Overview of Arginine Vasopressin Deficiency
Narcolepsy: Under-Appreciated Disease Aspects
Narcolepsy: Emerging Therapies
Narcolepsy: Diagnostic Challenges
Narcolepsy: Understanding Genetic Causes and Their Effect on Diagnosis and Treatment
Narcolepsy Breakthroughs and Emerging Therapies
Systemic mastocytosis is a rare and often “hidden” disease that can present with a wide range of symptoms. Because it can mimic other conditions, diagnosis is often delayed.
This overview highlights the complexity of the disease, its impact across multiple organ systems, and the ...importance of greater clinical awareness to support earlier recognition and diagnosis.
Learn more: https://checkrare.com/an-overview-of-systemic-mastocytosis/
#CheckRare #SystemicMastocytosis #RareAutoimmune #RareDisease
Systemic mastocytosis is a rare and often “hidden” disease that can present with a wide range of symptoms. Because it can mimic other conditions, diagnosis is often delayed.
This overview highlights the complexity of the disease, its impact across multiple organ systems, and the
Primary Analysis of KYV-101 for the Treatment of Stiff Person Syndrome














Improving Patient Outcomes and Quality Of Life in AVP-D
CheckRare 17 hours ago