Clinical Insights
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. Hypochondroplasia is a rare skeletal disease characterized by very short...
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).
Immune Effector Cell-Associated Enterocolitis in Relapsed/Refractory Multiple Myeloma Treated With Ciltacabtagene Autoleucel
Yi Lin, MD, PhD, Hematologist/Oncologist at Mayo Clinic, discusses immune effector cell-associated enterocolitis (IEC-EC) in patients with relapsed/refractory multiple myeloma (R/R MM) treated with ciltacabtagene autoleucel (cilta-cel).
Medical Treatment and Stem-Cell Transplantation in Patients With Cutaneous T-Cell Lymphoma
Lauren Shea, MD, Assistant Professor of Hematology and Oncology, University of Alabama, Birmingham, discusses important aspects of medical treatment and stem-cell transplantation in patients with cutaneous T-cell lymphoma (CTCL).
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Breakthrough Therapy Designation of Venglustat for the Treatment of Gaucher Disease Type 3
Jennifer Ibrahim, Head of North America, Rare Disease Medical Affairs at Sanofi, discusses the Breakthrough Therapy designation of venglustat for the treatment of neurological manifestations in...
FDA’s Plausible Mechanism Framework and its Effect on Rare Disease Therapy Development
Stevie Ringel, CEO of Nome Therapeutics, discusses the US Food and Drug Administration’s (FDA) Plausible Mechanism Framework and its effect on rare disease therapy development. On...
Beyond the Rash: Recognizing and Managing Systemic Mastocytosis in Clinical Practice
Systemic mastocytosis is a rare disease in which excess mast cells are produced and activated, resulting in chronic, severe, and heterogenous symptoms. CheckRare spoke with Patrick C. Foy, MD, a...
Full Approval Granted to Tecartus for Treatment of Adults With Mantle Cell Lymphoma
The US Food and Drug Administration (FDA) has approved Tecartus (brexucabtagene autoleucel) for the treatment of adults with relapsed or refractory (R/R) mantle cell lymphoma (MCL). MCL is a rare...
Investigational Dual AAV Gene Therapy for Patients With Stargardt Disease
Miquel Vila-Perello, PhD, co-founder and CEO of SpliceBio, discusses an investigational dual adeno-associated virus (AAV) gene therapy in development for patients with Stargardt disease. ...
Nipocalimab Granted Fast Track Designation in Systemic Lupus Erythematosus
Richard A. Furie, MD, Chief of the Division of Rheumatology at Northwell Health, discusses nipocalimab for the treatment of systemic lupus erythematosus (SLE). SLE is an autoimmune disease...
Psychological Aspects of Rare Autoimmune and Ophthalmic Diseases
A study published in World Journal of Clinical Cases investigated the psychological aspects of rare autoimmune and ophthalmic diseases, such as mental well-being and everyday functioning. The goal...
Accelerated Approval of Yuviwel (Navepegritide) for Patients with Achondroplasia
Carlos A. Bacino, MD, Professor of Molecular and Human Genetics, Baylor College of Medicine and Texas Children’s Hospital, discusses the accelerated approval of Yuviwel (navepegritide) for patients...
FDA Approves High Dose Regimen of Nusinersen in Patients With Spinal Muscular Atrophy
The US Food and Drug Administration (FDA) has approved a high dose regimen of Spinraza (nusinersen) for the treatment of spinal muscular atrophy (SMA). SMA is a genetic neuromuscular disorder...
30 Years of the Fabry Support and Information Group
Jack Johnson, Co-Founder and Executive Director of Fabry Support and Information Group (FSIG), discusses the organization’s 30 year anniversary. Fabry disease is a rare lysosomal storage disease...
Narcolepsy: Recognizing the Signals, Reducing Diagnostic Delay, and Improving Patient Outcomes
Narcolepsy is a chronic disorder characterized by excessive daytime sleepiness (EDS); it can be associated with significant sleep disturbance and functional impairment, resulting in increased risk...
Jeff’s Journey With Fabry Disease
Sponsored and written by Chiesi USA based on interviews with Jeff, a Chiesi Patient Ambassador for Elfabrio® (pegunigalsidase alfa-iwxj), and published with his express permission. Jeff has been...
Accelerated FDA Approval of Ex-Vivo Gene Therapy for Children with LAD-1
The US Food and Drug Administration (FDA) has granted accelerated approval to Kresladi (marnetegragene autotemcel) for the treatment of pediatric patients with severe leukocyte adhesion deficiency-1...
MESA Extension Study of Sevasemten in Patients With Becker Muscular Dystrophy
Joanne Donavan, MD, PhD, Chief Medical Officer at Edgewise Therapeutics, discusses the MESA extension study of sevasemten for the treatment of patients with Becker muscular dystrophy (BMD). ...
Rapid Eye Movement Sleep Behaviour Disorder in Moebius Syndrome
A study published in The Cureus Journal of Medical Science analyzed a case study of an adolescent with Rapid Eye Movement (REM) sleep behaviour disorder in Moebius syndrome. Moebius syndrome is a...
Accelerated Approval Granted to MPS II Enzyme Replacement Therapy That Crosses Blood Brain Barrier
The US Food and Drug Administration (FDA) has granted accelerated approval to Avlayah (tividenofusp alfa) for the treatment of neurologic manifestations of Hunter syndrome (MPS II). This is the...
How The FDA’s Plausible Mechanism Framework Is Accelerating Approval for Osteosarcoma Immunotherapy
Paul Romness, CEO of OS Therapies, discusses the Plausible Mechanism Framework draft guidance and how it will affect the approval process of OST-HER2 LM for the treatment of osteosarcoma. ...
FDA Approves Nivolumab With AVD for Patients With Classical Hodgkin Lymphoma
The US Food and Drug Administration (FDA) has approved Opdivo (nivolumab) with doxorubicin, vinblastine, and dacarbazine (AVD) for adult and pediatric patients 12 years and older with previously...
FDA Approves Lynavoy (Linerixibat) for Cholestatic Pruritus in Primary Biliary Cholangitis
The US Food and Drug Administration (FDA) has approved Lynavoy (linerixibat) for the treatment of cholestatic pruritus in adult patients with primary biliary cholangitis (PBC). PBC is a chronic,...
Results of the Phase 2 PIONEER Study in Patients With Systemic Mastocytosis
Cem Akin, MD, PhD, Professor, Allergy and Immunology at the University of Michigan, discusses with CheckRare systemic mastocytosis, and the results of the phase 2 PIONEER study, which tested the...
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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 23 hours ago