Atypical Rett syndrome

This Phase 3 study tests whether fenfluramine (ZX008) can safely reduce seizures in 87 children and adults with CDKL5 deficiency disorder, a rare genetic condition causing severe epilepsy. Participants receive either the drug or a placebo, followed by an open-label extension wher…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study tests whether wearing a virtual reality (VR) headset during dental treatment can reduce fear and stress in children with mild intellectual disabilities or autism spectrum disorder. Two hundred children aged 6 to 12 will either receive standard dental care or use a VR h…

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This study tests a wearable robotic exoskeleton called EXPLORER in 15 children with movement problems from conditions like cerebral palsy. The goal is to see if it helps them walk better in their everyday environments, such as home and the community. The study focuses on safety, …

This study creates a registry for up to 500 people with CDKL5 Deficiency Disorder (CDD), a rare genetic condition that causes seizures and developmental delays. Patients and their caregivers will provide information about symptoms, treatments, and quality of life over several yea…