Observing the natural progression of Angelman syndrome
A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in the United Kingdom: Natural History - Foundation for Angelman Syndrome Therapeutics (FAST) United Kingdom (UK)
This study is looking at how Angelman syndrome changes over time in children and adults to help create better ways to measure and treat the condition in future trials.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40 (estimated) |
| Sex | All |
| Sponsor | University of Oxford Academic / other |
| Locations | 1 site (Oxford, Oxon) |
| Trial ID | NCT05100810 on ClinicalTrials.gov |
What this trial studies
This observational study aims to conduct a longitudinal assessment of the natural clinical progression of Angelman syndrome in children and adults. It will gather baseline measurements and develop effective outcome measures and diagnostic tools in preparation for upcoming clinical trials. The study will utilize scales, questionnaires, motor measuring devices, sleep and seizure diaries, as well as proteomic analysis and EEG recordings to identify biomarkers for potential treatment outcomes.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age with a genetically confirmed diagnosis of Angelman syndrome.
Not a fit: Patients with significant comorbidities that may affect study results may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Angelman syndrome and improve future treatment strategies.
How similar studies have performed: While this study is focused on natural history, similar observational studies have successfully contributed to understanding other conditions, indicating potential for valuable insights.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Oxford, Oxon
- University of Oxford — Oxford, Oxon, United Kingdom (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.