Clinical trial NCT06229769: Natural History Study for Patients With Angelman Syndrome
Official title: A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in CHR Citadelle Liège : NatHis-Angelman
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Angelman Syndrome
Keywords: Actimyo°
Accelerometry
Daily living
Lead sponsor: Centre Hospitalier Universitaire de Liege
Sponsor class: OTHER
Collaborators: name: Centre Hospitalier Régional de la Citadelle
name: SYSNAV
First posted: 2024-01-29
Enrollment: 30
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with Angelman Syndrom

Brief 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. 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).

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

Primary outcomes:
measure: Bayley-IV gross motor functions
timeFrame: 2 years
measure: Bayley-IV fine motor functions
timeFrame: 2 years
measure: Bayley-IV Cognitive
timeFrame: 2 years
measure: Bayley-IV Receptive Communication
timeFrame: 2 years
measure: Bayley-IV Expressive Communication
timeFrame: 2 years
measure: Functional Mobility Scale (FMS)
timeFrame: 2 years
measure: Developmental Milestones
timeFrame: 2 years
measure: Hammersmith Infant Neurological Examination (HINE - if under 2 years old)
timeFrame: 2 years
measure: Vineland-II
timeFrame: 2 years
measure: Observed Reported Communication Assessment (ORCA)
timeFrame: 2 years
measure: Continuous movement monitoring using ActiMyo®
timeFrame: 2 years
Secondary outcomes:
measure: Clinical Global Impression - Improvement - Angelman Syndrome (CGI-I-AS)
timeFrame: 2 years
measure: Pediatric Quality of Life (PedsQL)
timeFrame: 2 years
Other outcomes:
measure: Blood sample collection and DNA extraction and storage
timeFrame: 1 year
Locations:
city: Liège
country: Belgium
facility: CHR Citadelle Liège
Study officials:
affiliation: CHR Citadelle
name: Laura Vanden Brande
role: PRINCIPAL_INVESTIGATOR
References: