Italian Angelman Syndrome Registry (RISA)

February 24, 2026 updated by: FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS

Italian Angelman Syndrome Registry Project

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.

Study Overview

Status

Completed

Conditions

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 Type

Observational

Enrollment (Actual)

82

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Italy
      • Bergamo, Italy, 24127
        • FROM - Research Foundation Bergamo Hospital - ETS, Bergamo, Italy

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients with Angelman syndrome (molecular and clinical diagnosis) from the ages of 1 day onwards

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS

Investigators

  • Study Director: Pier Luigi Carriero, FROM

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 16, 2018

Primary Completion (Actual)

February 16, 2021

Study Completion (Actual)

February 16, 2022

Study Registration Dates

First Submitted

June 26, 2018

First Submitted That Met QC Criteria

August 27, 2018

First Posted (Actual)

August 28, 2018

Study Record Updates

Last Update Posted (Actual)

February 27, 2026

Last Update Submitted That Met QC Criteria

February 24, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RISA

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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