Angelman syndrome

This Phase 3 study tests an experimental drug called ION582 in 158 children and adults with Angelman syndrome, a genetic disorder causing severe developmental delays. The drug is given as a spinal injection and aims to improve expressive communication and cognitive skills. Partic…

This study tests an experimental drug called GTX-102 (apazunersen) in 60 people with Angelman syndrome, a genetic disorder causing developmental delays and seizures. Participants range from 1 to 65 years old and are grouped by age and genetic type. The goal is to see if the drug …

This study tests a drug called ION582 for people with Angelman syndrome, a genetic condition causing developmental delays and seizures. The drug is given via a spinal injection. The main goal is to check safety and how the body processes the drug. Up to 70 participants aged 0 to …

This study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …

This study follows 40 people with Angelman syndrome over one year to see how their communication, motor skills, and behaviors change. Participants visit the study site five times for tests, brain activity monitoring (EEG), and sleep tracking. The goal is to better understand the …

This study will use eye tracking to measure how children with Angelman syndrome look at social and non-social images. Researchers hope to identify abnormalities in social perception that could serve as a biomarker for future treatment trials. The study includes 40 children with A…

This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…