Angelman Natural History Study - FAST Spain

Observational Study, Prospective Multicentric, From the Natural History of Patients With Angelman Syndrome in Spain

The goal of this study is to conduct a prospective, longitudinal study to observe the natural clinical progression and disease outcome of AS patients receiving no disease-modified intervention, with the purpose of obtaining data that will be useful for future clinical trials.

The overall goal is to increase our understanding of the long-term natural history of Angelman syndrome and to identify and validate objective and sensitive outcome measures, which could serve as endpoints for outcome measures that can be used in clinical trials.

Inclusion Criteria:

1. Male or female between 3 months and 99 years of age.
2. Clinical diagnosis of Angelman Syndrome and molecular confirmation of the diagnosis.
3. The participant has an acceptable guardian capable of giving consent on behalf of the participant,
4. Willingness and ability of their guardians to comply with scheduled visits, treatment plan, laboratory tests, and other study procedures.

Exclusion Criteria:

1. Patients with any comorbidity that, in the clinical judgment of the principal investigator, may affect the results of the study. Any confirmed chronic or acute condition or illness affecting any system(s) that could interfere with study results and/or compliance with study procedures is included.
2. Patients who are participating in parallel studies with investigational drugs.
3. Unwillingness or inability of their guardians to follow the procedures outlined in the protocol.