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.

Z-Basivarsen Shows Functional Improvements in One-Year Data for Myotonic Dystrophy Type 1

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.      Understanding Myotonic Dystrophy Type 1...

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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...

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...

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...

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Rational Design Meets Real-World Relevance: Pegunigalsidase Alfa in the Treatment of Fabry Disease

Rational Design Meets Real-World Relevance: Pegunigalsidase Alfa in the Treatment of Fabry Disease

Experts examine advances in rational drug design, focusing on pegunigalsidase alfa and its emerging role in patient care for Fabry disease.

Congenital And Genetic Conditions