Natural History Study for Patients With Angelman Syndrome

ConditionAngelman Syndrome

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorCentre Hospitalier Universitaire de Liege

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

comorbidity that could potentially affect the results of the study coexists. This

Trial population

Patients with Angelman Syndrom

Trial design

Design model

Case-only

Time perspective

Cross-sectional

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Trial outcomes

Primary outcomes

Bayley-IV gross motor functions

Scale of 58 items of Gross motor (raw score 0 to 116) development evaluation.

Time frame

2 years

Bayley-IV fine motor functions

Scale of 46 items of fine motor scale (raw score 0 to 92) development evaluation.

Time frame

2 years

Bayley-IV Cognitive

Scale of 81 items of cognitive scale development evaluation (raw score 0 to 162).

Time frame

2 years

Bayley-IV Receptive Communication

Scale of 42 items of receptive communication abilities scale in development evaluation (raw score 0 to 84).

Time frame

2 years

Secondary outcomes

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,

Time frame

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).

Time frame

2 years

Other outcomes

Blood sample collection and DNA extraction and storage

To create a DNA biobank

Time frame

1 year

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Centre Hospitalier Universitaire de Liege

Lead sponsor

Centre Hospitalier Régional de la Citadelle

Collaborator

SYSNAV

Collaborator

Source ClinicalTrials.gov

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