Clinical Insights
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...
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.
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.
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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...
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...
CureSHANK: Update on Clinical Research in Phelan-McDermid Syndrome
Geraldine Bliss, Co-Founder and President of CureSHANK, and Jenny Graham Beeson, Board Member for CureSHANK, discuss clinical research in Phelan-McDermid syndrome (PMS) and the Start Genetic...
New Clinical Trial Testing On-Demand Use of Deucrictibant in Patients With Hereditary Angioedema
Peng Lu, MD, PhD, Chief Medical Officer at Pharvaris, and Wim Souverijns, PhD, Chief Commercial Officer at Pharvaris, discuss the RAPIDe-3 clinical trial of deucrictibant for patients with...
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...
First Patient Dosed in FALCON Clinical Trial Evaluating SGT-212 Gene Therapy for Friedreich’s Ataxia
Gabriel Brooks, MD, Chief Medical Officer at Solid Biosciences, and Russell Lonser, MD, of The Ohio State University Wexner Medical Center, discuss SGT-212 and the FALCON clinical trial for patients...
Mogamulizumab in Danish Patients With CTCL
Lena Specht, MD, DMSc, talks with CheckRare about her Danish study supporting the use of mogamulizumab in Danish patients with CTCL.
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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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Anna Kole, Global Patient Engagement Lead for Myasthenia Gravis at UCB, discusses the findings from a mixed-methods study examining the experiences and unmet needs of people living with ocular myasthenia gravis (oMG) and explains how patient perspectives could improve clinical research and Read morecare.
View the full interview at https://checkrare.com/ucb-study-highlights-the-burden-of-ocular-myasthenia-gravis/
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/
#MyastheniaGravis #RareDiseaseEducation #HealthcareProfessionals #ClinicalResearch #PatientEducation
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
UCB Study Highlights the Burden of Ocular Myasthenia Gravis
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