Italian Angelman Syndrome Registry

Italian Angelman Syndrome Registry Project

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03650569

Acronym

RISA

Enrollment

Registered

2018-08-28

Start date

2018-02-16

Completion date

2022-02-16

Last updated

2026-02-27

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Angelman Syndrome

Keywords

Angelman Syndrome, Caregivers, Parents, Rare diseases, Registries

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.

Interventions

None listed

Study design

Observational model

FAMILY_BASED

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Age

1 Days to No maximum

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)

Design outcomes

Primary

Measure	Time frame	Description
Medical and behavioral problems	3 years	Medical and behavioral problems associated with Angelman syndrome and their prevalence.

Countries

Italy

Contacts

STUDY_DIRECTORPier Luigi Carriero

FROM

Outcome results