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...
Heart Diseases
According to the CDC, about one in four deaths is a result of heart disease. Health care providers are trained to focus on the more prevalent heart diseases. This section is focused on rare and often neglected heart conditions.
New Formulation of Berotralstat Approved for Adults and Adolescents With Hereditary Angioedema
The US Food and Drug Administration (FDA) has approved the oral pellet formulation of once-daily Orladeyo (berotralstat) for prophylactic therapy in patients ages 12 years and older with hereditary angioedema (HAE).
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 Approves Camzyos (Mavacamten) for Obstructive Hypertrophic Cardiomyopathy
The US Food and Drug Administration (FDA) has approved Camzyos (mavacamten) for the treatment of symptomatic obstructive hypertrophic cardiomyopathy (oHCM) to improve functional capacity and...
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...
Safety and Efficacy of Ralinepag in Patients With Pulmonary Arterial Hypertension
A study published in The Lancet evaluated the safety and efficacy of ralinepag in patients with pulmonary arterial hypertension (PAH). PAH is a rare condition affecting the heart and lungs,...
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...
Pulmonary Arterial Hypertension and Risk of Mental Health Comorbidities
A study published in Pulmonary Circulation evaluated the association between pulmonary arterial hypertension (PAH) diagnosis and risk of newly diagnosed mental health conditions. PAH is a rare...
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...
Fabry Disease: Patients’ Real-World Problems and How to Manage Them
Fabry Disease: Patients' Real-World Problems and How to Manage Them Staci Kallish, DO; Dawn Laney, MS, CGS, CCRCThis educational program, hosted by Staci Kallish, DO, and Dawn Laney, MS, CGS, CCRC,...
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...
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,...
Oral Deucrictibant for On-Demand Treatment of Hereditary Angioedema Attacks
A study published in The Lancet Hematology evaluated the efficacy and safety of deucrictibant for the on-demand treatment of hereditary angioedema (HAE) attacks. Hereditary angioedema (HAE) is a...
Effects of a SGLT2 inhibitor on Reducing Heart Failure in Carriers of Cardiomyopathy-Associated Genetic Variants
A study published in Nature Medicine evaluated whole-exome sequencing data from the DECLARE-TIMI 58 clinical trial to determine whether sodium–glucose cotransporter 2 (SGLT2) inhibition is...
Effects of Rodatrisat Ethyl on Activity in Patients With Pulmonary Arterial Hypertension
A study published in the Annals of the American Thoracic Society analyzed results from the ELEVATE-1 clinical trial testing the effects of rodatristat ethyl on daily activity in patients with...
Quality of Life in Patients With Pulmonary Arterial Hypertension
A study recently published in Health and Quality of Life Outcomes analyzed quality of life in patients with pulmonary arterial hypertension (PAH). PAH is a rare condition affecting the heart and...
Clinical Staging of Hypertrophic Cardiomyopathy in Fabry Disease
A retrospective observational study published in the International Journal of Cardiology evaluated a new clinical staging of hypertrophic cardiomyopathy in Fabry disease. Fabry disease is a...
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