NCT03650569

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
82

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Feb 2018

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 16, 2018

Completed
4 months until next milestone

First Submitted

Initial submission to the registry

June 26, 2018

Completed
2 months until next milestone

First Posted

Study publicly available on registry

August 28, 2018

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 16, 2021

Completed
1 year until next milestone

Study Completion

Last participant's last visit for all outcomes

February 16, 2022

Completed
Last Updated

February 27, 2026

Status Verified

February 1, 2026

Enrollment Period

3 years

First QC Date

June 26, 2018

Last Update Submit

February 24, 2026

Conditions

Angelman Syndrome

Keywords

Angelman SyndromeCaregiversParentsRare diseasesRegistries

Outcome Measures

Primary Outcomes (1)

  • Medical and behavioral problems

    Medical and behavioral problems associated with Angelman syndrome and their prevalence.

    3 years

Eligibility Criteria

Age1 Day+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with Angelman syndrome (molecular and clinical diagnosis) from the ages of 1 day onwards

You may qualify if:

  • Molecular diagnosis of Angelman syndrome

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

FROM - Research Foundation Bergamo Hospital - ETS, Bergamo, Italy

Bergamo, 24127, Italy

Location

Related Publications (15)

  • 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: 24014509BACKGROUND

  • 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: 24946931BACKGROUND

  • 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: 22753342BACKGROUND

  • 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: 26558806BACKGROUND

  • 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: 12566516BACKGROUND

  • 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: 20729760BACKGROUND

  • 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: 16316429BACKGROUND

  • 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: 9508247BACKGROUND

  • 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: 26040994BACKGROUND

  • 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: 25064682BACKGROUND

  • 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: 28764722BACKGROUND

  • 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: 27860204BACKGROUND

  • 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: 21204213BACKGROUND

  • 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: 29633452BACKGROUND

  • 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.

    PMID: 20445456BACKGROUND

MeSH Terms

Conditions

Angelman SyndromeRare Diseases

Condition Hierarchy (Ancestors)

Movement DisordersCentral Nervous System DiseasesNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornImprinting DisordersDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Pier Luigi Carriero

    FROM

    STUDY DIRECTOR

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
OTHER
Target Duration
36 Months
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 26, 2018

First Posted

August 28, 2018

Study Start

February 16, 2018

Primary Completion

February 16, 2021

Study Completion

February 16, 2022

Last Updated

February 27, 2026

Record last verified: 2026-02

Locations

IT(1)