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...
Musculoskeletal Diseases
A wide range of rare conditions involve the musculoskeletal system. Some of these disorders arise from genetic problems in the muscles themselves, while others involve the nerves or bones.
Z-Basivarsen Shows Functional Improvements in One-Year Data for Myotonic Dystrophy Type 1
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.
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.
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.
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Efficacy of Infigratinib on Achondroplasia
Daniela Rogoff, MD, PhD, Chief Medical Officer, Skeletal Dysplasia of BridgeBio, discusses the efficacy of infigratinib to treat persons with achondroplasia. Achondroplasia is a disorder of...
New Stem Cell Method Could Advance Research Into Spinal Muscular Atrophy
Kyle Loh, PhD, Associate Professor at Stanford Medicine, discusses research that could help scientists better understand spinal muscular atrophy (SMA) by generating new motor neurons from human...
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...
Plasma Proteomics May Predict Disease Manifestations in ALS
Michael Benatar, MD, PhD, Department of Neurology and ALS Center, University of Miami Miller School of Medicine, discusses the use of plasma proteomics in predicting clinical manifestations of...
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...
FDA Approves First Treatment for MCT8 Deficiency
The US Food and Drug Administration (FDA) has approved Emcitate (tiratricol) for the treatment of peripheral thyrotoxicosis in patients with monocarboxylate transporter 8 (MCT8) deficiency. MCT8...
FDA Approves Atebrioz (zilurgisertib) for Treatment of Fibrodysplasia Ossificans Progressiva
The US Food and Drug Administration (FDA) has approved Atebrioz (zilurgisertib) tablets to reduce the volume of total new heterotopic ossification (HO) in patients ages 12 years and older with...
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...
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...
Second Indication for Aqneursa in Ataxia Telangiectasia
The US Food and Drug Administration (FDA) has approved Aqneursa (levacetylleucine) for oral suspension to treat ataxia in patients with ataxia-telangiectasia who weigh at least 33 pounds (15 kg). ...
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...
Apitegromab Approved for Treatment of Patients With Spinal Muscular Atrophy
The US Food and Drug Administration (FDA) has approved Isembyld (apitegromab-mstn) for the treatment of spinal muscular atrophy (SMA) in patients ages 2 years and older who are currently receiving a...
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...
Father Pursues Gene Therapy for Sons With Rare Genetic Variations of Duchenne Muscular Dystrophy
Tushar Tangsali, father to two sons with Duchenne muscular dystrophy (DMD), discusses how he’s working to develop a gene therapy for a unique genetic variation of DMD for his sons. DMD...
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 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...
FDA Approves First Treatment for Dermatomyositis
The US Food and Drug Administration (FDA) has approved Lisraya (brepocitinib) 30 mg for the treatment of adults with dermatomyositis (DM). DM is a rare autoimmune condition that targets small blood...
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...
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