Natural History Study for Patients With Angelman Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Angelman Syndrome. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Belgium
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in CHR Citadelle Liège : NatHis-Angelman
Overview
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).
Primary outcome measures
- Bayley-IV gross motor functions [Time frame: 2 years]
- Bayley-IV fine motor functions [Time frame: 2 years]
- Bayley-IV Cognitive [Time frame: 2 years]
- Bayley-IV Receptive Communication [Time frame: 2 years]
- Bayley-IV Expressive Communication [Time frame: 2 years]
- Functional Mobility Scale (FMS) [Time frame: 2 years]
- Developmental Milestones [Time frame: 2 years]
- Hammersmith Infant Neurological Examination (HINE - if under 2 years old) [Time frame: 2 years]
- Vineland-II [Time frame: 2 years]
- Observed Reported Communication Assessment (ORCA) [Time frame: 2 years]
Secondary outcome measures (2)
- Clinical Global Impression - Improvement - Angelman Syndrome (CGI-I-AS) [Time frame: 2 years]
- Pediatric Quality of Life (PedsQL) [Time frame: 2 years]
Eligibility criteria
Inclusion criteria
- 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
Exclusion criteria
- comorbidity that could potentially affect the results of the study coexists. This
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
Belgium · 1 center
- CHR Citadelle Liège — Liège
Identifiers
NCT: NCT06229769 · NatHis-Angelman