Ignite Creation Date:
2025-12-24 @ 10:53 PM
Ignite Modification Date:
2026-02-23 @ 8:30 PM
Study NCT ID:
NCT03650569
Status:
COMPLETED
Last Update Posted:
2025-06-26
First Post:
2018-06-26
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Italian Angelman Syndrome Registry Protocol
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D017204', 'term': 'Angelman Syndrome'}, {'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D025063', 'term': 'Chromosome Disorders'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D000096803', 'term': 'Imprinting Disorders'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 82}, 'targetDuration': '36 Months', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2018-02-16', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-06', 'completionDateStruct': {'date': '2022-02-16', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2025-06-23', 'studyFirstSubmitDate': '2018-06-26', 'studyFirstSubmitQcDate': '2018-08-27', 'lastUpdatePostDateStruct': {'date': '2025-06-26', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2018-08-28', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2021-02-16', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Medical and behavioral problems', 'timeFrame': '3 years', 'description': 'Medical and behavioral problems associated with Angelman syndrome and their prevalence.'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Angelman Syndrome', 'Caregivers', 'Parents', 'Rare diseases', 'Registries'], 'conditions': ['Angelman Syndrome']}, 'referencesModule': {'references': [{'pmid': '24014509', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '24946931', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '22753342', 'type': 'BACKGROUND', 'citation': "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."}, {'pmid': '26558806', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '12566516', 'type': 'BACKGROUND', 'citation': 'Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet. 2003 Feb;40(2):87-95. doi: 10.1136/jmg.40.2.87.'}, {'pmid': '20729760', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '16316429', 'type': 'BACKGROUND', 'citation': 'Horsler K, Oliver C. The behavioural phenotype of Angelman syndrome. J Intellect Disabil Res. 2006 Jan;50(Pt 1):33-53. doi: 10.1111/j.1365-2788.2005.00730.x.'}, {'pmid': '9508247', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '26040994', 'type': 'BACKGROUND', 'citation': 'Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman Syndrome. Neurotherapeutics. 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y.'}, {'pmid': '25064682', 'type': 'BACKGROUND', 'citation': 'Mertz LG, Christensen R, Vogel I, Hertz JM, Ostergaard 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.'}, {'pmid': '28764722', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '27860204', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '21204213', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '29633452', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '20445456', 'type': 'BACKGROUND', 'citation': '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.'}]}, 'descriptionModule': {'briefSummary': "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.", 'detailedDescription': '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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '1 Day', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with Angelman syndrome (molecular and clinical diagnosis) from the ages of 1 day onwards', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Molecular diagnosis of Angelman syndrome\n\nExclusion Criteria:\n\n* Does not meet diagnostic criteria for Angelman Syndrome Other medical or genetic disorders (except autism)'}, 'identificationModule': {'nctId': 'NCT03650569', 'acronym': 'RISA', 'briefTitle': 'Italian Angelman Syndrome Registry Protocol', 'organization': {'class': 'OTHER', 'fullName': 'FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS'}, 'officialTitle': 'Italian Angelman Syndrome Registry Protocol', 'orgStudyIdInfo': {'id': 'Version 1 08.02.2018'}}, 'contactsLocationsModule': {'locations': [{'zip': '24127', 'city': 'Bergamo', 'country': 'Italy', 'facility': 'FROM (Fondazione per la Ricerca Ospedale Maggiore di Bergamo )', 'geoPoint': {'lat': 45.69601, 'lon': 9.66721}}], 'overallOfficials': [{'name': 'Pier Luigi Carriero', 'role': 'STUDY_DIRECTOR', 'affiliation': 'FROM'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}