Prem Subramanian, MD, PhD, Chief of Neuro-Ophthalmology at the University of Colorado Anschutz, discusses Tepezza (teprotumumab-trbw) for the treatment of thyroid eye disease (TED). TED is a chronic endocrine, autoimmune disease characterized by...
Treatment
Every breakthrough in rare disease treatment is a step toward improving quality of life for patients and families. This page highlights cutting-edge therapies, emerging technologies, and patient-centered care strategies that are revolutionizing the way rare diseases are managed. Discover the hope and progress driving the future of treatment options.
Biomarkers and Beyond: Integrating AI in Rare Disease Management
Stacey Kallish, MD, Clinical Geneticist at Penn Medicine in Philadelphia, is helping to lead a new wave of innovation at the intersection of artificial intelligence (AI) and rare disease care.
Arms Wide Open Childhood Cancer Foundation and CureFest
Dena Sherwood, mother to a neuroblastoma survivor and Founder of Arms Wide Open Childhood Cancer Foundation, discusses her organization and the CureFest event.
Rational Design Meets Real-World Relevance: Pegunigalsidase Alfa in the Treatment of Fabry Disease
The treatment landscape for Fabry disease, a rare, progressive lysosomal disorder characterized by α-galactosidase A deficiency that impacts multipe sytems in the body, is evolving. In this expert-led discussion, faculty explored how rational drug design is translating into meaningful clinical impact, with a focus on pegunigalsidase alfa and its emerging role in patient care.
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FDA Approves Sparsentan to Treat Focal Segmental Glomerulosclerosis
The US Food and Drug Administration (FDA) has approved Filspari (sparsentan) to reduce proteinuria in patients with focal segmental glomerulosclerosis (FSGS). The indication includes adult and...
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...
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...
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...
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...
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...
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...
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,...
CHMP Recommends Mavorixafor for WHIM Syndrome
The European Medicines Agency’s Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion recommending marketing authorization for mavorixafor (Xolremdi) for the treatment...
SMA in Focus: Practical Insights from MDA 2026
Early Screening and Treatment Effects on Motor Function in SMA CheckRare conducted a joint interview with two key opinion leaders in spinal muscular atrophy (SMA), Kristin J. Krosschell, DPT, MA,...
FDA Expands Indication of Lomitapide to Pediatric Patients With Homozygous Familial Hypercholesterolemia
The US Food and Drug Administration (FDA) has approved Juxtapid (lomitapide) capsules for the treatment of pediatric patients ages 2 years and older with homozygous familial hypercholesterolemia...
FDA Approves Wellcovorin (leucovorin) for Patients With Cerebral Folate Deficiency
The US Food and Drug Administration (FDA) has approved Wellcovorin (leucovorin calcium) tablets for the treatment of adult and pediatric patients with cerebral folate deficiency (CFD) with confirmed...
Gene Therapy in Patients With MPS IIIA
Brian Bigger, PhD, Professor of Advanced Therapeutics at the University of Edinburgh, discusses hematopoietic stem cell gene therapy (HSCGT) in patients with mucopolysaccharidosis IIIA (MPS IIIA;...
Chiesi Rare Disease Highlights at WORLDSymposia 2026
Rachele Berria, MD, PhD, Senior Vice President, Head of Global Medical Affairs at Chiesi Rare Diseases, gives an overview of the company’s highlights at WORLDSymposia 2026. According...
Prader-Willi Syndrome: Underlying Causes, Natural History, and Management
First described in 1956,[1] Prader–Willi syndrome is a complex genetic condition that is characterized by hyperphagia (unremitting, chronic overeating) with accompanying endocrine, cognitive, and...
Type 1 Plasminogen Deficiency Overview
Amy Shapiro, MD, a pediatric hematologist and the Medical Director and CEO of the Indiana Hemophilia and Thrombosis Center in Indianapolis, provides CheckRare an overview on type 1 plasminogen...











An Overview of Systemic Mastocytosis
CheckRare April 20, 2026 1:52 pm