Natural History Study for Patients With Angelman Syndrome (NatHisAngelman)

U

University Hospital Center (CHU) of Liege

Status

Enrolling

Conditions

Angelman Syndrome

Study type

Observational

Funder types

Other
Industry

Identifiers

NCT06229769
NatHis-Angelman

Details and patient eligibility

About

This study is a 4-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 1-year recruitment phase, a 2-year follow-up and a year to analyze the collected data. The investigators plan to include 10 patients with a semi-annual follow-up for 2 years. The investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.

Full description

Patients are seen every six months for two 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).

Enrollment

15 estimated patients

Sex

All

Volunteers

No Healthy Volunteers

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

Trial contacts and locations

1

Loading...

Central trial contact

Laura Buscemi

Data sourced from clinicaltrials.gov

Clinical trials

Find clinical trialsTrials by location
© Copyright 2024 Veeva Systems