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. Read our disclaimer for details.

ClinicalTrials.gov Identifier: NCT03650569

Recruitment Status : Active, not recruiting

First Posted : August 28, 2018

Last Update Posted : February 24, 2021

Sponsor:

Information provided by (Responsible Party):

Fondazione per la Ricerca Ospedale Maggiore

Study Description

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.

Study Design

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Study Type :	Observational [Patient Registry]
Actual Enrollment :	100 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
Actual Primary Completion Date :	February 16, 2021
Estimated Study Completion Date :	February 16, 2022

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Angelman syndrome

Genetic and Rare Diseases Information Center resources: Angelman Syndrome

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

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

Eligibility Criteria

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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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)

Contacts and Locations

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

Locations

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Italy
FROM (Fondazione per la Ricerca Ospedale Maggiore di Bergamo )
Bergamo, Italy, 24127

Sponsors and Collaborators

Fondazione per la Ricerca Ospedale Maggiore

Investigators

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Study Director:	Pier Luigi Carriero	FROM

More Information

Additional Information:

Publications:

Augustine EF, Adams HR, Mink JW. Clinical trials in rare disease: challenges and opportunities. J Child Neurol. 2013 Sep;28(9):1142-50. doi: 10.1177/0883073813495959.

Bailus BJ, Segal DJ. The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders. BMC Neurosci. 2014 Jun 19;15:76. doi: 10.1186/1471-2202-15-76. Review.

Bellgard MI, Macgregor A, Janon F, Harvey A, O'Leary P, Hunter A, Dawkins H. A modular approach to disease registry design: successful adoption of an internet-based rare disease registry. Hum Mutat. 2012 Oct;33(10):E2356-66. doi: 10.1002/humu.22154. Epub 2012 Jul 2.

Bi X, Sun J, Ji AX, Baudry M. Potential therapeutic approaches for Angelman syndrome. Expert Opin Ther Targets. 2016;20(5):601-13. doi: 10.1517/14728222.2016.1115837. Epub 2015 Nov 26. Review.

Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet. 2003 Feb;40(2):87-95. Review.

Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J Dev Behav Pediatr. 2010 Sep;31(7):592-601. doi: 10.1097/DBP.0b013e3181ee408e. Erratum in: J Dev Behav Pediatr. 2011 Apr;32(3):267.

Horsler K, Oliver C. The behavioural phenotype of Angelman syndrome. J Intellect Disabil Res. 2006 Jan;50(Pt 1):33-53. Review.

Laan LA, Halley DJ, den Boer AT, Hennekam RC, Renier WO, Brouwer OF. Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases. Am J Med Genet. 1998 Mar 19;76(3):262-8. Review.

Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman Syndrome. Neurotherapeutics. 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. Review.

Mertz LG, Christensen R, Vogel I, Hertz JM, Østergaard JR. Eating behavior, prenatal and postnatal growth in Angelman syndrome. Res Dev Disabil. 2014 Nov;35(11):2681-90. doi: 10.1016/j.ridd.2014.07.025. Epub 2014 Jul 26.

Napier KR, Tones M, Simons C, Heussler H, Hunter AA, Cross M, Bellgard MI. A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry. Orphanet J Rare Dis. 2017 Aug 1;12(1):134. doi: 10.1186/s13023-017-0686-1.

Tan WH, Bird LM. Angelman syndrome: Current and emerging therapies in 2016. Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):384-401. doi: 10.1002/ajmg.c.31536. Epub 2016 Nov 8. Review.

Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan;155A(1):81-90. doi: 10.1002/ajmg.a.33775.

Tones M, Cross M, Simons C, Napier KR, Hunter A, Bellgard MI, Heussler H. Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry. J Intellect Disabil Res. 2018 May;62(5):431-443. doi: 10.1111/jir.12482.

Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010 Jul;12(7):385-95. doi: 10.1097/GIM.0b013e3181def138. Review.

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Responsible Party:	Fondazione per la Ricerca Ospedale Maggiore
ClinicalTrials.gov Identifier:	NCT03650569
Other Study ID Numbers:	Version 1 08.02.2018
First Posted:	August 28, 2018 Key Record Dates
Last Update Posted:	February 24, 2021
Last Verified:	February 2021

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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

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