Clinical Insights
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...
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.
Generalized Myasthenia Gravis: AANEM 2026 Highlights
The American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM) held its 2026 annual meeting September 29–October 1 in Orlando. CheckRare focused its meeting coverage on generalized myathesthenia gravis (gMG), and its treatment and management.
Miv-cel Shows Durable Results in Stiff Person Syndrome and Myasthenia Gravis
Naji Gehchan, MD, MBA, Chief Medical and Development Officer at Kyverna Therapeutics, discusses one-year data showing sustained benefits of KYV-101 (mivocabtagene autoleucel ; Miv-cel) in stiff person syndrome (SPS), along with longer-term follow-up data in generalized myasthenia gravis (gMG).
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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;...
PRIZM Clinical Trial of Zagociguat in Patients With MELAS
Amel Karaa, MD, Genetics and General Metabolism, Director of the Mitochondrial Disease Program at Massachusetts General Hospital, discusses the PRIZM clinical trial of zagociguat in patients with...
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...
Real-World Perspective on Daily Challenges of Living With MPS II
Kristin McKay, President and Executive Director of Project Alive, discusses the real-world perspective on daily challenges of living with mucopolysaccharides II (MPS II). MPS II is an...
Potential Treatment for ROSAH Syndrome Accepted into FDA’s Rare Disease Evidence Principles Process
The US Food and Drug Administration (FDA) has accepted DF-003 into the FDA Rare Disease Evidence Principles Process (RDEP) for the potential treatment of ROSAH syndrome. ROSAH (retinal dystrophy,...
Autologous Hematopoietic Stem Cell Gene Therapy With Ex-Vivo LV Platform in MPS II
Brian Bigger, PhD, Professor of Advanced Therapeutics at the University of Edinburgh, discusses the first-in-human experience of autologous hematopoietic stem cell gene therapy (HSCGT) using a novel...
Challenges and Unmet Needs of Female Patients With Fabry Disease
Dawn Laney, MS, Genetic Counselor at Emory University School of Medicine, discusses the challenges and unmet needs of female patients with Fabry disease. Fabry disease is a type of lysosomal...
FDA Grants Approval to Multiple Myeloma Combination Therapy Under the National Priority Voucher Program
The US Food and Drug Administration (FDA) has approved Tecvayli (teclistamab-cqyv) plus Darzalex Faspro (daratumumab and hyaluronidase-fihj) for the treatment of adults with relapsed or refractory...
Breakthrough Therapy Designation Granted to Friedreich’s Ataxia Protein Replacement Therapy
The US Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation (BTD) to nomlabofusp for the treatment of patients with Friedreich’s ataxia. Friedreich’s ataxia is a...
ASMD Perspective Index: Diagnosing Niemann-Pick Disease
John Taggart, Head of Communications at Niemann-Pick UK (NPUK), discusses the ASMD Perspective Index and its use in diagnosing Niemann-Pick disease. Niemann-Pick disease is an inherited...
Global Efforts Towards Developing Treatment Options for Patients With Rare Lysosomal Storage Disorders
Bob Stevens, Group CEO of the MPS Society and Rare Disease Research Partners in the UK, discusses global efforts towards developing treatment options for patients with rare lysosomal storage...
Importance of Newborn Screening for Krabbe Disease
Dawn Laney, MS, Genetic Counselor at Emory University School of Medicine, discusses the importance of newborn screening and the need for more effective treatments in infantile Krabbe disease. ...
FDA Grants Accelerated Approval to Navepegritide for the Treatment of Patients With Achondroplasia
The US Food and Drug Administration (FDA) has granted accelerated approval of Yuviwel (navepegritide; previously TransCon CNP) for the treatment of patients two years of age and older with...
FDA Approves Enzyme Substitution Therapy for Teens With Phenylketonuria
The US Food and Drug Administration (FDA) has approved the supplemental Biologics License Application for Palynziq (pegvaliase-pqpz) to include pediatric patients ages 12 years and older with...
Healthcare Resource Use for Patients With MPS III
Karen Bean, Health Economist at Orchard Therapeutics, discusses healthcare resource use for patients with Mucopolysaccharidosis type III (MPS III). MPS III, also known as Sanfilippo...
Prader-Willi Syndrome: A Caregiver’s Perspective
Kelly Guillo, Board Member of the Prader-Willi Syndrome Association in Georgia, discusses Prader-Willi syndrome (PWS) from the perspective of a caregiver. PWS is a rare genetic...
Two-year Follow Up of FLT201 Gene Therapy in Adults with Gaucher Disease Type 1
Ida Vanessa D. Schwartz, MD, PhD, HCPA, Professor of Genetics at the Federal University of Rio Grande do Sul, discusses two-year follow up from GALILEO-1 of FLT201 gene therapy in adults with...
Reproduction and Pregnancy in Lysosomal Disorders
Best practices to manage pregnancy and other reproductive issues associated with lysosomal disorders (LDs)
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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.
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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