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...
Congenital And Genetic Conditions
Congenital and genetic conditions can be inherited or caused by environmental factors and can vary from mild to severe. This section is focused on genetic and congenital disorders in children and adolescents.
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.
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. ...
Priority Review for Dersimelagon in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria
Lukasz Jarzyna, Vice President of Rare Disease at LEO Pharma, discusses the Priority Review for dersimelagon in the treatment of erythropoietic protoporphyria (EPP) and X-linked protoporphyria...
A Patient’s Journey With Essential Thrombocythemia and Polycythemia Vera
Nona Baker, Co-Chair of MPN Voice and patient, discusses her journey with essential thrombocythemia (ET) and polycythemia vera (PV), including diagnosis and treatment. ET is a condition...
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...
Rett Syndrome Awareness Month
October is Rett Syndrome Awareness Month. Rett syndrome is a neurodevelopmental condition that primarily affects girls. People with the disease appear to have normal psychomotor development during...
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...
Zilganersen for the Treatment of Alexander Disease
Amy Waldman, MD, pediatric neurologist and Medical Director of the Leukodystrophy Center at the Children’s Hospital of Philadelphia, discusses the approval of Zanvastro (zilganersen) to treat...
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...
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). ...
Topline Results From the SANRECO Trial Testing Divesiran in Polycythemia Vera
Marina Kremyanskaya, MD, PhD, Associate Professor at Icahn School of Medicine at Mount Sinai, discusses the phase 2 topline findings from the SANRECO clinical trial and the evolving polycythemia...
FDA Approves Gene Therapy (Fayuvi) for Pediatric Patients With Sanfilippo Syndrome (MPS IIIA)
The US Food and Drug Administration (FDA) has approved Fayuvi (rebisufligene etisparvovec-hopf; UX111) for the treatment of pediatric patients with mucopolysaccharidosis type IIIA (MPS IIIA;...
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...
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