Italian Angelman Syndrome Registry Protocol (RISA)

FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS

Status: Completed

Conditions: Angelman Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT03650569

Version 1 08.02.2018

Details and patient eligibility

About

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.

Full 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.

Enrollment: 82 patients

Sex: All

Ages: 1+ day old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Molecular diagnosis of Angelman syndrome

Exclusion criteria

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