{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["15(1)"],"submitter":["Tjeertes J"],"funding":["Biogen","F. Hoffmann-La Roche","Ionis Pharmaceuticals"],"pubmed_abstract":["<h4>Background</h4>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.<h4>Methods</h4>Fifty-five individuals with AS (aged < 5 years: n = 16, 5-12 years: n = 27, ≥ 18 years: n = 12; deletion genotype: n = 40, nondeletion genotype: n = 15) and 20 typically developing children (aged 1-12 years) were enrolled across six USA sites. Several clinical outcome assessments and digital"],"journal":["Journal of neurodevelopmental disorders"],"pagination":["22"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10373389"],"repository":["biostudies-literature"],"pubmed_title":["Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)."],"pmcid":["PMC10373389"],"pubmed_authors":["Tjeertes J","Rotenberg A","Bichell TJ","Shen MD","Wheeler AC","Berry-Kravis E","Krishnan ML","Vincenzi B","Jeste S","Sadhwani A","Tan WH","Hipp JF","Crean R","Bird LM","Bacino CA","Nobbs D","Parkerson KA","Ochoa-Lubinoff C","Komorowski RW","Squassante L","Bustamante M","Miller MT"],"additional_accession":[]},"is_claimable":false,"name":"Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).","description":"<h4>Background</h4>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.<h4>Methods</h4>Fifty-five individuals with AS (aged < 5 years: n = 16, 5-12 years: n = 27, ≥ 18 years: n = 12; deletion genotype: n = 40, nondeletion genotype: n = 15) and 20 typically developing children (aged 1-12 years) were enrolled across six USA sites. Several clinical outcome assessments and digital","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jul","modification":"2025-04-26T11:34:19.868Z","creation":"2025-04-06T13:44:35.114Z"},"accession":"S-EPMC10373389","cross_references":{"pubmed":["37495977"],"doi":["10.1186/s11689-023-09494-w"]}}