Clinical trial NCT03650569: Italian Angelman Syndrome Registry Protocol
Official title: Italian Angelman Syndrome Registry Protocol
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Angelman Syndrome
Keywords: Angelman Syndrome
Caregivers
Parents
Rare diseases
Registries
Lead sponsor: FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS
Sponsor class: OTHER
First posted: 2018-08-28
Enrollment: 82
Sex: ALL
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with Angelman syndrome (molecular and clinical diagnosis) from the ages of 1 day onwards

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.

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)

Primary outcomes:
measure: Medical and behavioral problems
timeFrame: 3 years
Secondary outcomes:
Other outcomes:
Locations:
city: Bergamo
country: Italy
facility: FROM (Fondazione per la Ricerca Ospedale Maggiore di Bergamo )
Study officials:
affiliation: FROM
name: Pier Luigi Carriero
role: STUDY_DIRECTOR
References:
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