Clinical Insights
3D Printed Treatment Options | The CheckRare Brief
In this episode, we discuss a new formulation of treatment for HAE, the FDA approval of Voceryq for recurrent respiratory papillomatosis, and 3D printed treatment options. New Formulation for HAE Approved The FDA has approved a new oral pellet...
Molecular Changes Associated With Teprotumumab Treatment in Thyroid Eye Disease
Sarah Cheng, MD, PhD, a clinical oculoplastic fellow at the University of California, San Diego, discusses findings from an exploratory study examining the biological changes in orbital tissue associated with Tepezza (teprotumumab-trbw) treatment. The findings were presented at the 2026 American Academy of Ophthalmology (AAO) Annual Meeting in New Orleans, Louisiana.
FDA Grants Accelerated Approval to Voceryq for Recurrent Respiratory Papillomatosis
The US Food and Drug Administration (FDA) has granted accelerated approval to Voceryq (doruxapapogene ralaplasmid and lalikinogene sifuplasmid-gxfd), previously referred to as INO-3107, to reduce the frequency of surgery in adults with recurrent respiratory papillomatosis (RRP).
Mirum’s Livmarli Achieves Primary Endpoint in Phase 3 EXPAND Study
Mirum Pharmaceuticals recently announced positive topline results from its phase 3 EXPAND study, evaluating Livmarli (maralixibat) for cholestatic pruritus in patients six months and older with ultra-rare cholestatic liver diseases. Jennifer Vittorio, MD, an EXPAND investigator, an Associate Professor of Pediatrics, and the Medical Director of Pediatric Liver Transplantation at NYU Langone Health, discusses the findings.
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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...
Phase 3 Results of Brepocitinib for the Treatment of Dermatomyositis
Ben Zimmer, CEO of Priovant Therapeutics, discusses results from the recent phase 3 study testing brepocitinib for the treatment of dermatomyositis (DM). DM is a rare autoimmune...
Tepezza (Teprotumumab) for the Treatment of Thyroid Eye Disease
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). ...
Biomarkers and Beyond: Integrating AI in Rare Disease Management
Staci Kallish, DO, 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. With a...
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. Neuroblastoma is a rare...
Rational Design Meets Real-World Relevance: Pegunigalsidase Alfa in the Treatment of Fabry Disease
In this expert-led discussion, the faculty examine how advances in rational drug design are translating into meaningful clinical impact, with a particular focus on pegunigalsidase alfa and its...
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...
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...
Systemic Mastocytosis: Recognition, Diagnosis, and Clinical Management
Highlighting the early signs of Systemic Mastocytosis (SM), criteria and tools, and the importance of timely referral/testing
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TETON-2 Findings in Treatment of Idiopathic Pulmonary Fibrosis #podcast #raredisease
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Highlights from The Liver Meeting 2026 | The CheckRare Brief
Results of the Phase 3 OASIS Study of Oral Olorofim
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What should you know about myasthenia gravis?
From understanding the underlying disease mechanisms to exploring FDA-approved treatment options and ongoing clinical research, staying informed is essential for the rare disease community.
The Myasthenia Gravis Disease Learning CenterRead more brings together educational information and resources to help patients, caregivers, and healthcare professionals better understand this complex condition.
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UCB Study Highlights the Burden of Ocular Myasthenia Gravis
Living With Ocular Symptoms of Myasthenia Gravis
Steven Nathan, MD, MBBCh, FCCP, Director of the Advanced Lung Disease and Lung Transplant Program at Inova Fairfax Hospital, discusses findings from a post-hoc analysis of the phase 3 TETON-2 study, presented at the CHEST 2026 Annual Meeting.
View the full interview at Read morehttps://checkrare.com/inhaled-treprostinil-reduces-multiple-disease-progression-events-in-ipf/
What's the latest research in rare liver conditions?
Get updates from The Liver Meeting 2026 and more on this week's episode of The CheckRare Brief at https://checkrare.com/highlights-from-the-liver-meeting-2026-the-checkrare-brief/
What's the latest research in rare liver conditions?
Get updates from The Liver Meeting 2026 and more on this week's episode of The CheckRare Brief at https://checkrare.com/highlights-from-the-liver-meeting-2026-the-checkrare-brief/
TETON-2 Findings in Treatment of Idiopathic Pulmonary Fibrosis #podcast #raredisease
Inhaled Treprostinil Reduces Multiple Disease Progression Events in IPF
Highlights from The Liver Meeting 2026
Inhaled Treprostinil Reduces Multiple Disease Progression Events in IPF
Highlights from The Liver Meeting 2026 | The CheckRare Brief
Johan Maertens, MD, PhD, Professor of Hematology at University Hospitals Leuven (UZ Leuven) in Belgium and Principal Investigator of the OASIS study, discusses positive phase 3 trial results evaluating oral olorofim in patients with invasive aspergillosis.
View the full interview at Read morehttps://checkrare.com/phase-3-oasis-study-shows-promise-of-oral-olorofim-for-invasive-aspergillosis/
Johan Maertens, MD, PhD, Professor of Hematology at University Hospitals Leuven (UZ Leuven) in Belgium and Principal Investigator of the OASIS study, discusses positive phase 3 trial results evaluating oral olorofim in patients with invasive aspergillosis.
View the full
Phase 3 OASIS Study Shows Promise of Oral Olorofim for Invasive Aspergillosis
Results of the Phase 3 OASIS Study of Oral Olorofim
UCB Study Highlights the Burden of Ocular Myasthenia Gravis
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