Clinical Insights
Colors of SM: Expressions of Life with Systemic Mastocytosis
Fatima Scipione, Vice President of Global Patient Affairs at Blueprint Medicines, discusses the Colors of SM program. Systemic mastocytosis (SM) is a rare disease usually caused by mutations of the KIT D816V gene. The disorder is characterized by...
The Importance of Early Diagnosis in IgA Nephropathy
Eric Lai, MD, Nephrologist at the West Coast Kidney Institute, discusses the importance of early diagnosis in IgA nephropathy (IgAN).
Results From a Phase 3 Study of Voxzogo (Vosoritide) in Children With Hypochondroplasia
Andrew Dauber, MD, Chief of Endocrinology at Children’s National Hospital, discusses results from a phase 3 study of Voxzogo (vosoritide) in children with hypochondroplasia.
Results From the Phase 3 ElevAATe Clinical Trial in Alpha-1 Antitrypsin Deficiency
Alaa Hamed, MD, Global Head of Medical Affairs Rare Diseases at Sanofi, discusses results from the phase 2 ElevAATe clinical trial of efdoralprin alfa in patients with alpha-1 antitrypsin deficiency (AATD).
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DUET Clinical Trial of Xywav in Patients With Narcolepsy
Logan Schneider, MD, Adjunct Clinical Associate Professor of Psychiatry and Behavioral Sciences at Stanford University, discusses the DUET clinical trial of Xywav (low sodium oxybate) in patients...
Data Presented on Myasthenia Gravis at the 2026 American Academy of Neurology Meeting
Omar Sinno, MD, US Medical Strategy Lead for Rare Disease at UCB Pharma, discusses data presented on myasthenia gravis (MG) at the 2026 American Academy of Neurology meeting. MG is a...
Itvisma Gene Therapy for Patients With Spinal Muscular Atrophy
John Day, MD, PhD, Director of Neuromuscular Medicine at Stanford University, discusses the development of Itvisma gene therapy for patients with spinal muscular atrophy (SMA). SMA is...
Upcoming Regulatory Decision for LNTH-2501 in the Imaging of Neuroendocrine Tumors
Mauro Cives, MD, Associate Professor of Medical Oncology at the University of Bari, Italy, discusses the upcoming regulatory decision for LNTH-2501 to improve imaging of neuroendocrine tumors...
Results From the ACUITY Clinical Trial in Patients With Acute Optic Neuritis
Pablo Villoslada, MD, PhD, Founder and Medical Director of Accure Therapeutics and Head of Pathogenesis and New Therapies MS at IDIBAPS in Hospital Clínic in Barcelona, discusses results from the...
Outcomes of Pegcetacoplan Treatment in Adolescents With C3G and IC-MPGN
A recent publication in the Clinical Journal of the American Society of Nephrology presented outcomes of pegcetacoplan treatment in adolescents with C3 glomerulopathy (C3G) and primary immune...
Oxbryta (Voxelotor) Clinical Study Analysis Strives to Get Sickle Cell Disease Treatment Back on Market
A recent clinical study analysis of Oxbryta (voxelotor), globally withdrawn in 2024, was submitted to the FDA with the intent of getting voxelotor back on the market. Sickle cell disease (SCD) is a...
Efficacy of Efgartigimod To Treat Patients with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP): ADHERE Trial
Hans Katzberg, MD, Professor of Neurology at the University of Toronto and Neurologist at Toronto General Hospital, discusses post hoc analyses from the ADHERE clinical trial in chronic inflammatory...
Key Features of PLGD-1
Angela Zhu, MD, is an Ophthalmologist and Clinical Assistant Professor, Pediatric & Adult Cornea/Cataract/External Diseases, at Bascom Palmer Eye Institute in Miami. In this interview with...
Primary Analysis of KYV-101 for the Treatment of Stiff Person Syndrome
Naji Gehchan, MD, MBA, Chief Medical and Development Officer at Kyverna Therapeutics, discusses primary analysis of KYV-101 for the treatment of stiff person syndrome (SPS). SPS is a...
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...
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...
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...
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...
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...
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🎗️ The @CureFestUSA for Childhood Cancer event, hosted by the Arms Wide Open Childhood Cancer Foundation takes place September 18-20 in Washington, DC!
Register at https://www.curefestusa.org/
#CureFest2026
🎗️ The @CureFestUSA for Childhood Cancer event, hosted by the Arms Wide Open Childhood Cancer Foundation takes place September 18-20 in Washington, DC!
Register at https://www.curefestusa.org/
#CureFest2026
Long-Term Results of Ziftomenib Combination Therapy in Patients With Acute Myeloid Leukemia
Christopher Romero, MD, discusses #AVPD, previously known as central diabetes insipidus.
Learn the reason behind the name change, presentation, diagnosis, and management at https://checkrare.com/overview-of-arginine-vasopressin-deficiency/
#CheckRare #RareGenetic #RareEndocrine ...#RareNeurology
Christopher Romero, MD, discusses #AVPD, previously known as central diabetes insipidus.
Learn the reason behind the name change, presentation, diagnosis, and management at https://checkrare.com/overview-of-arginine-vasopressin-deficiency/
#CheckRare #RareGenetic #RareEndocrine ...#RareNeurology
This past weekend, CheckRare was once again honored to cover ENDO 2026. Stay tuned for our expert interviews with world renowned thought leaders, advocates, and rare patients and caregivers. #ENDO2026
CEPHEUS Clinical Trial of Daratumumab Combination Therapy in Newly Diagnosed Multiple Myeloma
Colors of SM: Expressions of Life with Systemic Mastocytosis
The Importance of Early Diagnosis in IgA Nephropathy
Results From a Phase 3 Study of Voxzogo (Vosoritide) in Children With Hypochondroplasia
Results From the Phase 2 ElevAATe Clinical Trial in Alpha-1 Antitrypsin Deficiency
IEC-EC in Relapsed/Refractory Multiple Myeloma Treated With Ciltacabtagene Autoleucel
June is CAH Awareness Month 🩵
Learn more about this rare disease and its diagnosis, management, and research advancements at https://checkrare.com/june-is-cah-awareness-month/ or the link in our bio.
#CheckRare #CAHAwarenessMonth #CAH #CongenitalAdrenalHyperplasia #RareEndocrine
June is CAH Awareness Month 🩵
Learn more about this rare disease and its diagnosis, management, and research advancements at https://checkrare.com/june-is-cah-awareness-month/
#CheckRare #CAHAwarenessMonth #CAH #CongenitalAdrenalHyperplasia #RareEndocrine
John Day, MD, PhD, Director of Neuromuscular Medicine at Stanford University, discusses the development of Itvisma gene therapy for patients with spinal muscular atrophy (SMA).
https://checkrare.com/itvisma-gene-therapy-for-patients-with-spinal-muscular-atrophy/
#CheckRare ...#RareMusculoskeletal #RareNeurology #SMA #SpinalMuscularAtrophy












Long-Term Results of Ziftomenib Combination Therapy in Patients With Acute Myeloid Leukemia
CheckRare June 23, 2026 10:23 am