Italian Angelman Syndrome Registry Protocol

Completed

• Conditions: Angelman Syndrome

• Registration Number: NCT03650569
• Lead Sponsor: FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS

Brief Summary

The Italian Angelman Registry is a national registry for patients with Angelman Syndrome. No experimental intervention is involved in participation. The data provided are stored in the registry according the EU General Data Protection Regulation (GDPR, enforced on 25 May 2018), unless participants wish to withdraw their child/ adult's information from the registry.

Detailed Description

Parents/caregivers of a child or an adult with Angelman Syndrome living in Italy are eligible to insert data in this registry. The individuals must have a diagnosis of Angelman Syndrome confirmed by genetic testing results. The registry has been launched in February 2018 in coincidence with the International Angelman Day and the recruitment will be open until February 2021.

Study Timeline

• Study Start: 2018-02-16
• Study First Submitted: 2018-06-26
• Study First Submitted QC: 2018-08-27
• Study First Posted: 2018-08-28
• Primary Completion: 2021-02-16
• Study Completion: 2022-02-16
• Status Verified: 2023-08
• Last Update Submitted: 2024-01-10
• Last Update Posted: 2024-01-12

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 82

Inclusion Criteria

• Molecular diagnosis of Angelman syndrome

Exclusion Criteria

• Does not meet diagnostic criteria for Angelman Syndrome Other medical or genetic disorders (except autism)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Medical and behavioral problems	3 years	Medical and behavioral problems associated with Angelman syndrome and their prevalence.

Trial Locations

Locations (1)

FROM (Fondazione per la Ricerca Ospedale Maggiore di Bergamo ); 🇮🇹 Bergamo, Italy