Status:
RECRUITING
Angelman Natural History Study - FAST Spain
Lead Sponsor:
Puerta de Hierro University Hospital
Collaborating Sponsors:
Parc Taulí Hospital Universitari
Conditions:
Angelman Syndrome
Eligibility:
All Genders
3-99 years
Brief Summary
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 t...
Detailed Description
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 endp...
Eligibility Criteria
Inclusion
- Male or female between 3 months and 99 years of age.
- Clinical diagnosis of Angelman Syndrome and molecular confirmation of the diagnosis.
- The participant has an acceptable guardian capable of giving consent on behalf of the participant,
- Willingness and ability of their guardians to comply with scheduled visits, treatment plan, laboratory tests, and other study procedures.
Exclusion
- 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.
- Patients who are participating in parallel studies with investigational drugs.
- Unwillingness or inability of their guardians to follow the procedures outlined in the protocol.
Key Trial Info
Start Date :
December 1 2023
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
July 1 2025
Estimated Enrollment :
40 Patients enrolled
Trial Details
Trial ID
NCT06115109
Start Date
December 1 2023
End Date
July 1 2025
Last Update
April 3 2024
Active Locations (2)
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1
Hospital Parc Tauli. Servicio de Genética molecular
Barcelona, Spain, 08208
2
Servicio de Farmacología Clínica. Hospital Universitario Puerta de Hierro Majadahonda
Madrid, Spain, 28049