Italian Angelman Syndrome Registry

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.

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Key information

Conditions

Angelman Syndrome Abnormalities, Multiple Central Nervous System Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Genetic Diseases, Inborn Imprinting Disorders Movement Disorders Nervous System Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases

Age range

1 day and older

Sex eligibility

All sexes

Study type

Observational

Primary location

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

Bergamo, 24127, Italy

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Molecular diagnosis of Angelman syndrome

Exclusion criteria

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

Treatment and study plan

Primary outcomes

Medical and behavioral problems

Time frame: 3 years

Medical and behavioral problems associated with Angelman syndrome and their prevalence.

Sponsors and collaborators

Lead sponsor

FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS

Other

Registry information

Official study title

Italian Angelman Syndrome Registry Project

Acronym: RISA

Important dates

Study start: 2018
Primary completion: 2021
Study completion: 2022
First posted: Aug 28, 2018
Registry last updated: Feb 27, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed