Angelman Syndrome Natural History Study-FAST UK

Launched by UNIVERSITY OF OXFORD · Oct 19, 2021

Keywords

ClinConnect Summary

The Angelman Syndrome Natural History Study-FAST UK is a research project aimed at understanding how Angelman syndrome (AS) progresses over time in both children and adults. By studying the natural development of this condition, the researchers hope to gather important information that can help create better tools for diagnosis and treatment in future clinical trials. The study is currently looking for participants who have a confirmed genetic diagnosis of AS, ranging in age from 0 to 99 years. Caregivers of these participants can also join the study, provided they are over 18 and can understand the study details.

Participants can expect to provide information through various assessments that will track the changes in their condition over time. The study is designed to gather a lot of baseline data, which means it will help establish a clear picture of how AS affects individuals before any new treatments are tested. It's important to note that individuals with other serious health conditions may not be eligible to participate, as the study aims to focus solely on the natural progression of AS without interference from other diseases. Overall, this study could play a crucial role in improving care and treatment for those living with Angelman syndrome.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• For the candidate participants affected by AS:
• • Genetically confirmed diagnosis of AS
• • 0-99 years
• • Male or Female
• • Obtained consent forms and/or record of consultation by the carers.
• In this study, the two primary carers for each participant diagnosed with AS will be also considered participants. Carers will have to meet the following inclusion criteria:
• • Male or Female
• • \>18 years
• • Legal carer of the patient diagnosed with AS
• • Willingness to follow study procedures, as assessed by the research team
• • Willingness to sign the consent form
• • Ability to understand all the information regarding the study, as assessed by the research team
• Exclusion Criteria:
• • The participant affected by AS may not enter the study if there is any comorbidity (\*) that could potentially affect the results of the study. This will be subject to the clinical judgement of the Chief Investigator (CI) and/or the Principal Investigator (PI). Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded as assessments need to be done on the basis that represent the natural progression of AS.
• • (\*) This includes any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and/or the compliance with the study procedures.