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Angelman Syndrome Italian Registry (RISA)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT03650569
Recruitment Status : Recruiting
First Posted : August 28, 2018
Last Update Posted : August 28, 2018
Sponsor:
Information provided by (Responsible Party):
Fondazione per la Ricerca Ospedale Maggiore

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.

Condition or disease
Angelman Syndrome

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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 300 participants
Observational Model: Family-Based
Time Perspective: Other
Target Follow-Up Duration: 36 Months
Official Title: Italian Angelman Syndrome Registry Protocol
Actual Study Start Date : February 16, 2018
Estimated Primary Completion Date : February 16, 2021
Estimated Study Completion Date : February 16, 2021

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. Medical and behavioral problems [ Time Frame: 3 years ]
    Medical and behavioral problems associated with Angelman syndrome and their prevalence.



Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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
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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03650569


Contacts
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Contact: Pier Luigi Carriero, MD + 390352675134 registroangelman@asst-pg23.it

Locations
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Italy
FROM (Fondazione per la Ricerca Ospedale Maggiore di Bergamo ) Recruiting
Bergamo, Italy, 24127
Contact: Pier Luigi Carriero, MD         
Sponsors and Collaborators
Fondazione per la Ricerca Ospedale Maggiore
Investigators
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Study Director: Pier Luigi Carriero FROM

Additional Information:

Publications:

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Responsible Party: Fondazione per la Ricerca Ospedale Maggiore
ClinicalTrials.gov Identifier: NCT03650569     History of Changes
Other Study ID Numbers: Version 1 08.02.2018
First Posted: August 28, 2018    Key Record Dates
Last Update Posted: August 28, 2018
Last Verified: August 2018

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Fondazione per la Ricerca Ospedale Maggiore:
Angelman Syndrome
Caregivers
Parents
Rare diseases
Registries

Additional relevant MeSH terms:
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Angelman Syndrome
Syndrome
Disease
Pathologic Processes
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn