Laurie Gutmann, MD, professor of neurology at Indiana University, discusses data showing functional improvements with zeleciment basivarsen (z-basivarsen; DYNE-101) in patients with myotonic dystrophy type 1. Understanding Myotonic Dystrophy Type 1...
Ophthalmology/Eye Diseases
Disease overviews and news and key expert videos focused on rare ophthalmology and eye disorders.
FDA Approves Enspryng, the First At-Home Treatment Option for Thyroid Eye Disease
The US Food and Drug Administration (FDA) has approved Enspryng (satralizumab) for the treatment of adults with thyroid eye disease (TED).
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.
Ultragenyx Sells PRV for $210M | The CheckRare Brief Ep 11
In this episode, we discuss Ultragenyx’s Priority Review Voucher that sold for $210 million, the efficacy of newborn screening on MLD, and ethical considerations needed to design and conduct clinical trials.
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Therapies for MCT8 Deficiency and Nephrotic Syndrome Get FDA Approval | The CheckRare Brief Ep 10
On September 28th, the FDA approved Emcitate, or tiratricol, from Egetis Therapeutics. It's the first-ever treatment for MCT8 deficiency, a condition also known as Allan-Herndon-Dudley syndrome. ...
FDA CDER’s Accelerating Rare Disease Cures Program
Paz Vellanki, MD, PhD, Vice President of Clinical Development at Precision for Medicine, discusses the FDA CDER’s Accelerating Rare Disease Cures (ARC) Program. The ARC Program was launched...
New Rare Disease Center of Excellence and FDA Advances in Rare Disease | The CheckRare Brief Ep 9
This week on The CheckRare Brief, we are joined by Eugene Lee, CMI Media Group’s Group President, Specialty Communications, for an industry perspective on some of the biggest developments in rare...
KAT6 Syndromes
KAT6 syndromes are rare genetic neurodevelopmental disorders caused by genetic mutations in the KAT6A or KAT6B genes. KAT6 syndromes are characterized by speech and motor delay, low muscle tone,...
FDA Approves New Therapies for MPS IIIA and SMA | The CheckRare Brief Ep 8
This week we discuss the FDA's approval of Isembyld for SMA, the approval of a gene therapy for MPS IIIA, and the FDA's Center for Devices and Radiological Health new Rare Disease Impact...
What to Expect: 2026 MGFA Scientific Session
Jenny McCue, Vice President of Global Research and Clinical Development at the Myasthenia Gravis Foundation of America (MGFA), discusses research highlights to be presented at the upcoming 2026 MGFA...
First-Line Therapy Approved for Rare Lung Cancer | The CheckRare Brief Ep 7
This week, three developments highlight the rapidly changing rare disease treatment landscape: a Phase 3 setback in Angelman syndrome, continued competition in hereditary angioedema, and an...
New Huntington’s Disease Gene Therapy Application | The CheckRare Brief Ep 6
In this episode of The CheckRare Brief, we discuss two recent FDA approvals for rare diseases, including Zanvastro for Alexander disease and Besremi for essential thrombocythemia (ET). We...
Data on Maribavir in Post-Transplant Cytomegalovirus
Neil Inhaber, MD, FRCPC, Therapeutic Area Head of Global Medical, Rare Disease at Takeda, discusses data on maribavir in post-transplant cytomegalovirus (CMV) presented at the American Transplant...
New Graves’ Disease Community Website
Christine Gustafson, Executive Director and CEO of the TED Community Organization, discusses the new Graves’ Community website. Graves’ disease is an autoimmune disease characterized...
New FDA Approvals for Rare Diseases: From Autoimmune Disorders to Pancreatic Cancer | The CheckRare Brief Ep 5
In this episode of The CheckRare Brief, we discuss four recent FDA approvals, including LISRAYA for dermatomyositis and Imaavy for warm autoimmune hemolytic anemia (wAIHA), Mimrylo for...
Predicting Treatment Response Outcomes With Proteomic and Machine Learning Analyses in Myasthenia Gravis
Henry Kaminski, MD, Department of Neurology, and Linda Kusner, PhD, Department of Pharmacology & Physiology at George Washington University, discuss predicting response outcomes with proteomic...
Getting a Rare Disease Drug Approved Is Only Half the Battle | The CheckRare Brief Ep 4
FDA approval is a major milestone, but for patients with rare diseases, it is only the beginning. In this episode of The CheckRare Brief, we look at two new rare disease approvals, ongoing...
FDA Approves New Narcolepsy Treatment | The CheckRare Brief
On this week’s episode of The CheckRare Brief, we discuss FDA's approval of Orzeyful (oveporexton) to treat patients with narcolepsy type 1, CAMP4’s first-in-human clinical trial for patients...
FDA Advisory Board’s Concerns About New Duchenne Drug, Brain Fog in Immune Thrombocytopenia
The CheckRare Brief delivers a concise summary of the week's most important developments in rare diseases. Each episode covers FDA approvals, clinical trial updates, conference highlights,...
FDA Approves Lumvoa (Veligrotug) for Thyroid Eye Disease
The US Food and Drug Administration (FDA) has approved Lumvoa (veligrotug) for the treatment of thyroid eye disease (TED), regardless of TED's duration or activity. TED is a chronic endocrine,...
Plasminogen Deficiency: Fibrin Accumulation and Its Effects on Patients
Plasminogen is a precursor protein that is converted into plasmin. Plasmin is crucial to break down fibrin, the main protein component of blood clots.[1] When the body does not produce sufficient...
Safety and Efficacy of Subcutaneous Efgartigimod PH20 in Ocular Myasthenia Gravis
Carolina Barnett-Tapia, MD, Neuromuscular Neurologist and the University of Toronto, discusses the safety and efficacy of subcutaneous efgartigimod PH20 in ocular myasthenia gravis (oMG). ...
METEOROID Clinical Trial of Enspryng (Satralizumab) in Patients With MOGAD
Michael Levy, MD, PhD, Neuroimmunologist and Associate Professor at Harvard Medical School, discusses results from the METEOROID clinical trial of Enspryng (satralizumab) in patients with myelin...
New Trial to Compare Rituximab With Targeted Therapies in Patients With Neuromyelitis Optica Spectrum Disorder
Sumaira Ahmed, Founder and Executive Director of The Sumaira Foundation, discusses her organization and the BEST-NMOSD clinical trial for patients with neuromyelitis optica spectrum disorder...
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