Clinical Insights
Ultragenyx Gets $203M in Second Priority Review Voucher This Month | The CheckRare Brief
On this episode, we discuss the FDA approval of Enspryng for TED, the new FDA Rare Disease Framework Initiative, Ultrangenyx’s second sold PRV this month, and using AI to reduce diagnostic delays. FDA Approves Treatment for TED The FDA has approved...
Efficacy of Vosoritide to Treat Hypochondroplasia
Andrew Dauber, MD, MMsc, Chief of Endocrinology at Children’s National, discusses the efficacy of vosoritide to treat persons with hypochondroplasia.
Efficacy of Infigratinib on Achondroplasia
Daniela Rogoff, MD, PhD, InChief Medical Officer, Skeletal Dysplasia of BridgeBio, discusses the efficacy of infigratinib to treat persons with achondroplasia.
FDA Grants Breakthrough Therapy Designation to Cimzia for Pregnancy Complications in Antiphospholipid Syndrome
Jane Salmon, MD, Professor of Medicine at Weill Cornell Medical College, discusses antiphospholipid syndrome (APS), its impact on pregnancy, and emerging research into Cimzia (certolizumab pegol) as a potential approach to preventing serious pregnancy complications.
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Riliprubart for the Treatment of CIDP
Claudia Sommer, MD, Professor of Neurology at the University of Würzburg, Germany, and Alex Seluzhytsky, MD, Senior Global Medical Director at Sanofi, discuss data on riliprubart for the treatment...
Linvoseltamab Combination Therapy in Patients With Relapsed/Refractory Multiple Myeloma
Salomon Manier, MD, PhD, Associate Professor of Hematology at Lille University Hospital in France, discusses results from a phase 1b clinical trial evaluating linvoseltamab combination therapy in...
FDA Approves Garadacimab for Hereditary Angioedema
The U.S. Food and Drug Administration (FDA) has approved Andembry (garadacimab) for the treatment of hereditary angioedema (HAE) in patients ages 12 years and older. Hereditary Angioedema HAE...
Evaluating Nerandomilast in Patients With Rare Pulmonary Fibrotic Conditions
Leticia Orsatti, MD, Vice President of Clinical Development and Medical Affairs at Boehringer Ingelheim, discusses results from clinical trials examining the safety and efficacy of nerandomilast to...
Evolving Policy Landscapes for Rare Disease Access
Deb Jennings, Head of North America Patient Services Operations at Kyowa Kirin, discusses evolving policy landscapes for rare disease access. In a panel discussion at the 2025 World...
Patient Experience With Stevens-Johnson Syndrome
Katie Niemeyer, patient advocate, discusses her experience with Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN). SJS/TEN is a very severe reaction that causes skin tissue...
FDA Approves Taletrectinib for Rare Form of Lung Cancer
The U.S. Food and Drug Administration (FDA) has approved taletrectinib for the treatment of adults with locally advanced or metastatic ROS1-positive non-small cell lung cancer (NSCLC). ROS1-positive...
Linerixibat Reduces Itching in Patients with PBC
Robert Mitchell-Thain, chair of the PBC Foundation, discusses how linerixibat reduces itching in patients with primary biliary cholangitis (PBC). PBC is a chronic, progressive...
The Role of Mental Health in Rare Disease Patient Outcomes
Sumira Riaz, PhD, Health Psychologist & Patient Engagement Consultant at Unboxed Psychology, discusses the role of mental health in rare disease patient outcomes. Unboxed...
Priority Review Voucher Tracking
In 2007, the FDA created the Priority Review Voucher (PRV) program to incentivize the development of drugs for rare pediatric and tropical diseases. These PRVs act as a way to skip to the front of...
Mavorixafor Granted Fast Track Designation to Treat Chronic Neutropenia
The U.S. Food and Drug Administration (FDA) has granted Fast Track designation to mavorixafor for the treatment of chronic neutropenia. Neutropenia is a rare genetic, autoimmune condition...
Current Challenges Facing the ALS and FTD Communities
Jean Swidler, Executive Director for End The Legacy, discusses current challenges facing the amyotrophic lateral sclerosis (ALS) and frontotemporal dementias (FTD) communities. ALS is...
Diagnostic Odyssey With Histiocytosis
Nate Milam II, Patient Advocate for the Histiocytosis Association, discusses his diagnostic odyssey with histiocytosis. Histiocytosis is a rare hematologic disorder characterized by...
What Is Primary Ciliary Dyskinesia?
Stephanie Davis, MD, and Thomas Ferkol, MD, Professors of Medicine at University of North Carolina at Chapel Hill, and co-leaders of the Genetic Disorders Mucociliary Clearance Consortium, provide...
Diagnosing Rett Syndrome
Laura Mamounas, PhD, Program Director at the National Institute of Neurological Disorder and Stroke (NINDS) at the NIH in Bethesda, discusses the challenges of diagnosing Rett syndrome. ...
Patient Advocacy in CACNA1A-Related Disorders
Pangkong Fox, PhD, Science Engagement Director at the CACNA1A Foundation and rare disease mom, discusses patient advocacy in CACNA1A-related disorders. CACNA1A-related disorders are a...
Rare Disease Recognition and Awareness Days
Rare disease awareness days serve an important purpose of informing the public, creating community, and raising money to support funding towards new research and treatments. Below is a calander...
Disease Severity and Progression in Patients With ENPP1 Deficiency
Matt Winton, PhD, Senior Vice President and Chief Operating Officer of Inozyme Pharma, discusses results from an analysis characterizing disease severity and progression in patients with ENPP1...
The Current Landscape of SYNGAP1-Related Disorders
Mike Graglia, Co-Founder & Managing Director of the SynGAP Research Fund and rare disease dad, discusses the current landscape of SYNGAP1-related disorders (SRD). SRDs are a rare...
Genetic Testing for WHIM Syndrome
Jolan Walter, PhD, MD, Division Chief of Pediatric Allergy and Immunology at the University of South Florida, discusses genetic testing for WHIM syndrome. WHIM syndrome is an acronym...
C3G and the Pediatric VALIANT Study
Bradley Dixon, MD, pediatric nephrologist, discusses complement 3 glomerulopathy (C3G) and the pediatric VALIANT study.
Recent Videos
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 | 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.
Explore the learning center: https://checkrare.com/myasthenia-gravis/
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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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