Angelman SyndromeNatHisAngelmanNCT06229769
Natural History Study for Patients With Angelman Syndrome
An observational study of Angelman Syndrome, run by Centre Hospitalier Universitaire de Liege at 1 site in Belgium.
Trial summary
This study is a 9-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world). It includes a 3-year recruitment phase, a 5 year follow-up and a year to analyze the collected data. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Angelman Syndrome
- How many people
- 30 participants
- Where
- 1 siteBelgium
- Study dates
- 10 Oct 2021to Jan 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Angelman Syndrom
Who may be able to join
- Genetically confirmed diagnosis of AS
- 0-99 years
- Male or Female
- Participant's carer is willing to give IC/sign a "record of consultation" for participation in the study
Who cannot join
- comorbidity that could potentially affect the results of the study coexists. This
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Tamara Dangouloff, PhD contact
Belgium1 site, 1 recruiting
- Recruiting
CHR Citadelle Liège
Liège, Liège, 4000
Noor Benmhammed, 43217726 ext. +32, noor.benmhammed@citadelle.be
Tamara Dangouloff, PhD, 43215269 ext. +32, tamara.dangouloff@uliege.be
About this study
Official title: A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in CHR Citadelle Liège : NatHis-Angelman
This study is a 9-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world). It includes a 3-year recruitment phase, a 5 year follow-up and a year to analyze the collected data. The investigators plan to include 30 patients with a semi-annual follow-up for 4 years.
The investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.
Read the detailed description
Patients are seen every six months for five years. In these visits, patient have medical review (general medical examination, neurological examination), vital signs (height, weight, respiratory rate, heart rate, blood pressure), cognitive assessment (Bayley-IV), language assessment and questionaire (Bayley-IV, ORCA), motor assessments (Bayley-IV, FMS, Developmental milestones and HINE), quality of life questionnaire (PedsQL, CGI-CASS) and general development questionnaire (Vineland-II).
- Conditions
- Angelman Syndrome
- Keywords
- Actimyo°, Accelerometry, Daily living
- Medical subject headings
- Angelman Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Bayley-IV gross motor functions
Scale of 58 items of Gross motor (raw score 0 to 116) development evaluation.
Measured: 2 years
Bayley-IV fine motor functions
Scale of 46 items of fine motor scale (raw score 0 to 92) development evaluation.
Measured: 2 years
Bayley-IV Cognitive
Scale of 81 items of cognitive scale development evaluation (raw score 0 to 162).
Measured: 2 years
Bayley-IV Receptive Communication
Scale of 42 items of receptive communication abilities scale in development evaluation (raw score 0 to 84).
Measured: 2 years
Bayley-IV Expressive Communication
Scale of 37 items of expressive communication abilities scale in development evaluation (raw score 0 to 74).
Measured: 2 years
Functional Mobility Scale (FMS)
Scale o 3 items (5, 50 and 500 meters distance of ability to move alone) to classify children's functional mobility, document change over time in the same child and to document change seen following. This scale is scored 1 (moving alone with wheelchair) to 6 (running).
Measured: 2 years
Developmental Milestones
Scale to Evaluate the general gross motor milestones of 6 items global motor ability, from ability to sit without support to walk alone (score by able or not able). .
Measured: 2 years
Hammersmith Infant Neurological Examination (HINE - if under 2 years old)
Scale of 8 items to evaluation the mobility in young children, scored 0 (unable) to 4 (able and normal for children age) per items (total raw score from 0 to 32).
Measured: 2 years
Vineland-II
11 subscales of items evaluated with Caregivers interview tool for assessing the level of autonomy and adaptation for all ages.
Subscales are composed as following (higher scores with better the abilites):
- Listening and understanding, raw score 0 to 40;
- Speaking, raw score 0 to 108,
- Reading and writing, raw score 0 to 54,
- Self caring, raw score 0 to 82,
- Home caring, raw score 0 to 48,
- Community living, raw score 0 to 88,
- Contact with others, raw score 0 to 76,
- Play and use your free time, raw score 0 to 62,
- Adapting, raw score 0 to 60,
- Gros motor, raw score 0 to 80,
- Fine motor, raw score 0 to 72,
Measured: 2 years
Observed Reported Communication Assessment (ORCA)
Caregivers interview of 23 items with subscales to assessing the general communication.
This is a qualitative questionnaire.
Measured: 2 years
Continuous movement monitoring using ActiMyo®
To improve the design of future clinical trials by validating tools of assessment based on their suitability to be used as prognostic measures.
Measured: 2 years
Secondary outcomes (2)
Clinical Global Impression - Improvement - Angelman Syndrome (CGI-I-AS)
Caregivers interview of quality of life severity and change in patient with Angelman Syndrome since last 7 days and since the last month.
Part regarding the severity in last 7 days is composed of 9 items scored 0 ("not at all difficult") to 4 ("very difficult"), raw score is between 0 to 36.
Part regarding change in last month is composed of 9 items scored 1 ("very much improved") to 7 ("very much worse"), raw score is between 0 to 63,
Measured: 2 years
Pediatric Quality of Life (PedsQL)
Caregivers interview of quality of life and family impact in daily life separated in two parts, one regarding the last 7 days and one regarding the last month.
Total raw score for each part is on 100 (100 related to no impact to 0 related to a huge impact).
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jan 2024
- Study start10 Oct 2021
- Primary completionJan 2028 (estimated)
- Study completionJan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Liege
- Sponsor type
- University, hospital or other
- Collaborators
- Centre Hospitalier Régional de la Citadelle, SYSNAV
- Responsible party
- Principal investigator, Laurent Servais, Centre Hospitalier Universitaire de Liege
- Investigators
- Laura Vanden Brande, Principal investigator, CHR Citadelle
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06229769
- Sponsor's protocol ID
- NatHis-Angelman
- Acronym
- NatHisAngelman
- Status last verified
- May 2025
- First submitted
- 2 Nov 2023
- Last updated
- 20 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in CHR Citadelle Liège : NatHis-Angelman
- ClinicalTrials.gov ID
- NCT06229769
- Acronym / sponsor ID
- NatHisAngelman / NatHis-Angelman
- Conditions
- Angelman Syndrome
- Keywords
- Actimyo°, Accelerometry, Daily living
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de LiegeUniversity, hospital or other
- Collaborators
- Centre Hospitalier Régional de la Citadelle, SYSNAV
- Study start
- 10 Oct 2021 (actual)
- Primary completion
- Jan 2028 (estimated)
- Study completion
- Jan 2028 (estimated)
- First posted
- 29 Jan 2024 (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.
This study is a 9-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world). It includes a 3-year recruitment phase, a 5 year follow-up and a year to analyze the collected data. The investigators plan to include 30 patients with a semi-annual follow-up for 4 years.
The investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.
Detailed description
Patients are seen every six months for five years. In these visits, patient have medical review (general medical examination, neurological examination), vital signs (height, weight, respiratory rate, heart rate, blood pressure), cognitive assessment (Bayley-IV), language assessment and questionaire (Bayley-IV, ORCA), motor assessments (Bayley-IV, FMS, Developmental milestones and HINE), quality of life questionnaire (PedsQL, CGI-CASS) and general development questionnaire (Vineland-II).
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Angelman Syndrom
Key inclusion criteria (4 listed)
- Genetically confirmed diagnosis of AS
- 0-99 years
- Male or Female
- Participant's carer is willing to give IC/sign a "record of consultation" for participation in the study
Key exclusion criteria (1 listed)
- comorbidity that could potentially affect the results of the study coexists. This
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
Bayley-IV gross motor functions
Time frame: 2 years
Scale of 58 items of Gross motor (raw score 0 to 116) development evaluation.
Bayley-IV fine motor functions
Time frame: 2 years
Scale of 46 items of fine motor scale (raw score 0 to 92) development evaluation.
Bayley-IV Cognitive
Time frame: 2 years
Scale of 81 items of cognitive scale development evaluation (raw score 0 to 162).
Bayley-IV Receptive Communication
Time frame: 2 years
Scale of 42 items of receptive communication abilities scale in development evaluation (raw score 0 to 84).
Bayley-IV Expressive Communication
Time frame: 2 years
Scale of 37 items of expressive communication abilities scale in development evaluation (raw score 0 to 74).
Functional Mobility Scale (FMS)
Time frame: 2 years
Scale o 3 items (5, 50 and 500 meters distance of ability to move alone) to classify children's functional mobility, document change over time in the same child and to document change seen following. This scale is scored 1 (moving alone with wheelchair) to 6 (running).
Developmental Milestones
Time frame: 2 years
Scale to Evaluate the general gross motor milestones of 6 items global motor ability, from ability to sit without support to walk alone (score by able or not able). .
Hammersmith Infant Neurological Examination (HINE - if under 2 years old)
Time frame: 2 years
Scale of 8 items to evaluation the mobility in young children, scored 0 (unable) to 4 (able and normal for children age) per items (total raw score from 0 to 32).
Vineland-II
Time frame: 2 years
11 subscales of items evaluated with Caregivers interview tool for assessing the level of autonomy and adaptation for all ages. Subscales are composed as following (higher scores with better the abilites): 1. Listening and understanding, raw score 0 to 40; 2. Speaking, raw score 0 to 108, 3. Reading and writing, raw score 0 to 54, 4. Self caring, raw score 0 to 82, 5. Home caring, raw score 0 to 48, 6. Community living, raw score 0 to 88, 7. Contact with others, raw score 0 to 76, 8. Play and use your free time, raw score 0 to 62, 9. Adapting, raw score 0 to 60, 10. Gros motor, raw score 0 to 80, 11. Fine motor, raw score 0 to 72,
Observed Reported Communication Assessment (ORCA)
Time frame: 2 years
Caregivers interview of 23 items with subscales to assessing the general communication. This is a qualitative questionnaire.
Continuous movement monitoring using ActiMyo®
Time frame: 2 years
To improve the design of future clinical trials by validating tools of assessment based on their suitability to be used as prognostic measures.
2 secondary outcomes
Clinical Global Impression - Improvement - Angelman Syndrome (CGI-I-AS)
Time frame: 2 years
Pediatric Quality of Life (PedsQL)
Time frame: 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 May 2025.
- Individual participant dataSharing planned: No
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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.
Tamara Dangouloff, PhD contact
Laura Vanden Brande principal investigator
CHR Citadelle
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 Centre Hospitalier Universitaire de Liege at 1 site in Belgium.
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 4 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: looking for participants now, as of the sponsor's last update on 20 May 2025. 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 Belgium. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Noor Benmhammed (43217726 ext. +32, Noor.Benmhammed@citadelle.be), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Bayley-IV gross motor functions (time frame: 2 years). The study lists 11 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 20 May 2025.