Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)

• Published in: Journal of neurodevelopmental disorders 2023-07, Vol.15 (1), p.22-21, Article 22
• Main Authors: Tjeertes, Jorrit, Bacino, Carlos A, Bichell, Terry Jo, Bird, Lynne M, Bustamante, Mariana, Crean, Rebecca, Jeste, Shafali, Komorowski, Robert W, Krishnan, Michelle L, Miller, Meghan T, Nobbs, David, Ochoa-Lubinoff, Cesar, Parkerson, Kimberly A, Rotenberg, Alexander, Sadhwani, Anjali, Shen, Mark D, Squassante, Lisa, Tan, Wen-Hann, Vincenzi, Brenda, Wheeler, Anne C, Hipp, Joerg F, Berry-Kravis, Elizabeth
• Format: Article
• Language: English
• Subjects: Age; Angelman syndrome; Angelman Syndrome - complications; Angelman's syndrome; Biomarkers; Caregivers; Chromosomes; Clinical outcome assessments; Clinical outcomes; Clinical trials; Convulsions & seizures; Coronaviruses; COVID-19; Digital health technology; EEG; Electroencephalography; Endpoint development; Feasibility studies; Genotypes; Hospitals; Humans; Longitudinal studies; Motor ability; Neurodevelopmental disorders; Observational studies; Pandemics; Pathophysiology; Phenotypes; Prospective Studies; Quality of life; Questionnaires; Sleep; Ubiquitin-protein ligase
• ISSN: 1866-1955; 1866-1947; 1866-1955
• DOI: 10.1186/s11689-023-09494-w

Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data could help identify appropriate endpoints assessing meaningful improvements in clinical trials. Herein are reported the results from the FREESIAS study assessing the feasibility and utility of in-clinic and at-home measures of key AS symptoms. Fifty-five individuals with AS (aged