Angelman SyndromeRISANCT03650569
Italian Angelman Syndrome Registry
An observational study of Angelman Syndrome, run by FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS at 1 site in Italy.
Trial 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… Read more about this study
- Who is it for?
- Ages 1 day and older
- Conditions the study is for
- Angelman Syndrome
- How many people
- 82 participants
- Where
- 1 siteItaly
- Study dates
- 16 Feb 2018to 16 Feb 2022
- How long will I take part?
- 36 Months
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Angelman syndrome (molecular and clinical diagnosis) from the ages of 1 day onwards
Who may be able to join
- Molecular diagnosis of Angelman syndrome
Who cannot join
- Does not meet diagnostic criteria for Angelman Syndrome Other medical or genetic disorders (except autism)
Trial locations and contacts
1 site in 1 country.
Italy1 site
FROM - Research Foundation Bergamo Hospital - ETS, Bergamo, Italy
Bergamo, 24127
About this study
Official title: Italian Angelman Syndrome Registry Project
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.
Read the 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.
- Conditions
- Angelman Syndrome
- Keywords
- Angelman Syndrome, Caregivers, Parents, Rare diseases, Registries
- Medical subject headings
- Angelman Syndrome, Rare Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Medical and behavioral problems
Medical and behavioral problems associated with Angelman syndrome and their prevalence.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Aug 2018
- Study start16 Feb 2018
- Primary completion16 Feb 2021
- Study completion16 Feb 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (15)Papers the sponsor has linked to this study.
- Other trials for Angelman SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Other
- Enrolment
- 82 participants (actual)
- Target duration
- 36 Months
Sponsor and investigators
- Lead sponsor
- FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Pier Luigi Carriero, Study director, FROM
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03650569
- Sponsor's protocol ID
- RISA
- Acronym
- RISA
- Status last verified
- Feb 2026
- First submitted
- 26 Jun 2018
- Last updated
- 27 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
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.
PubMed 24014509Bailus 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.
PubMed 24946931Bellgard 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.
PubMed 22753342Bi 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.
PubMed 26558806Clayton-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.
PubMed 12566516Gentile 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.
PubMed 20729760Horsler 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.
PubMed 16316429Laan 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.
PubMed 9508247Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman Syndrome. Neurotherapeutics. 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y.
PubMed 26040994Mertz 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.
PubMed 25064682Napier 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.
PubMed 28764722Tan 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.
PubMed 27860204Tan 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.
PubMed 21204213Tones 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.
PubMed 29633452Williams 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.
PubMed 20445456
Study at a glance
From the registry record, last updated by the sponsor on 27 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Italian Angelman Syndrome Registry Project
- ClinicalTrials.gov ID
- NCT03650569
- Acronym / sponsor ID
- RISA / RISA
- Conditions
- Angelman Syndrome
- Keywords
- Angelman Syndrome, Caregivers, Parents, Rare diseases, Registries
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 82 participants (actual)
- Lead sponsor
- FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETSUniversity, hospital or other
- Study start
- 16 Feb 2018 (actual)
- Primary completion
- 16 Feb 2021 (actual)
- Study completion
- 16 Feb 2022 (actual)
- First posted
- 28 Aug 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Other
- Target follow-up
- 36 Months
Who may qualify
- Ages
- 1 day and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Angelman syndrome (molecular and clinical diagnosis) from the ages of 1 day onwards
Key inclusion criteria (1 listed)
- Molecular diagnosis of Angelman syndrome
Key exclusion criteria (1 listed)
- Does not meet diagnostic criteria for Angelman Syndrome Other medical or genetic disorders (except autism)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Medical and behavioral problems
Time frame: 3 years
Medical and behavioral problems associated with Angelman syndrome and their prevalence.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Feb 2026.
- Background: PubMed 24014509Augustine 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.
- Background: PubMed 24946931Bailus 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.
- Background: PubMed 22753342Bellgard 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.
- Background: PubMed 26558806Bi 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.
- Background: PubMed 12566516Clayton-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.
- Background: PubMed 20729760Gentile 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.
- Background: PubMed 16316429Horsler 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.
- Background: PubMed 9508247Laan 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.
- Background: PubMed 26040994Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman Syndrome. Neurotherapeutics. 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y.
- Background: PubMed 25064682Mertz 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.
- Background: PubMed 28764722Napier 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.
- Background: PubMed 27860204Tan 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Pier Luigi Carriero study director
FROM
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Angelman Syndrome, run by FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 27 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Medical and behavioral problems (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03650569, which also lists 15 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Feb 2026.