Angelman Syndrome Italian Registry

Brief Title

Angelman Syndrome Italian Registry

Official Title

Italian Angelman Syndrome Registry Protocol

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 Type

Observational [Patient Registry]


Primary Outcome

Medical and behavioral problems


Condition

Angelman Syndrome



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

100

Start Date

February 16, 2018

Completion Date

February 16, 2022

Primary Completion Date

February 16, 2021

Eligibility Criteria

        Inclusion Criteria:

          -  Molecular diagnosis of Angelman syndrome

        Exclusion Criteria:

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

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Pier Luigi Carriero, , 

Location Countries

Italy

Location Countries

Italy

Administrative Informations


NCT ID

NCT03650569

Organization ID

Version 1 08.02.2018


Responsible Party

Sponsor

Study Sponsor

Fondazione per la Ricerca Ospedale Maggiore


Study Sponsor

Pier Luigi Carriero, Study Director, FROM


Verification Date

February 2021