Management and Obstacles of Rett Syndrome Patients

by | May 17, 2024

Alan Percy, MD, Pediatric Neurologist at University of Alabama at Birmingham, discusses the current management and obstacles of Rett syndrome patients.      Rett syndrome is a neurodevelopmental condition primarily affecting girls. Patients with the disease...

ENPP1 and ABCC6 Deficiency Overviews

by | May 15, 2024

Doug Treco, PhD, CEO of Inozyme Pharma, provides an overview of ENPP1 Deficiency and ABCC6 Deficiency.       ENPP1 ENPP1 Deficiency is a rare metabolic disease caused by mutations in the ENPP1 enzyme. This enzyme is responsible for the cleavage of...

Overview of Tethered Spinal Cord

by | May 14, 2024

Patricia Weltin, CEO of Beyond the Diagnosis, provides an overview of tethered spinal cord syndrome (TSCS).     Tethered spinal cord syndrome is a progressive, nervous system disorder in which tissue attaches to the spinal cord. This limits movement and...

AFFINITY Clinical Trial For Duchenne Muscular Dystrophy

by | May 13, 2024

Aravindhan Veerapandiyan, MD, pediatric neurologist at Arkansas Children’s Hospital, discusses the AFFINITY clinical trial testing the safety and efficacy of RGX-202 for patients with Duchenne muscular dystrophy (DMD).     DMD is a rare disease affecting the...