Clinical Trials Logo
  1. Home
  2. Angelman Syndrome
  3. NCT06229769

Natural History Study for Patients With Angelman Syndrome — NatHisAngelman  

Angelman Syndrome Clinical Trial

Official title:
A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in CHR Citadelle Liège : NatHis-Angelman

Clinical Trial Summary

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.

Clinical Trial 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). ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT06229769
Study type Observational
Source Centre Hospitalier Universitaire de Liege
Contact Laura Buscemi
Phone 43215584
Email laura.buscemi@citadelle.be
Status Recruiting
Phase
Start date October 10, 2021
Completion date January 2028
View Details
See also
  Status Clinical Trial Phase
Recruiting NCT05293184 - The Global Angelman Syndrome Registry
Completed NCT00004351 - Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes N/A
Enrolling by invitation NCT06139172 - Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities N/A
Enrolling by invitation NCT03655223 - Early Check: Expanded Screening in Newborns
Enrolling by invitation NCT03836300 - Parent and Infant Inter(X)Action Intervention (PIXI) N/A
Completed NCT03235037 - Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome N/A
Recruiting NCT05100810 - Angelman Syndrome Natural History Study-FAST UK
Completed NCT03644693 - Nutritional Formulation for Angelman Syndrome N/A
Completed NCT03358823 - Study on the Brain Network of Angelman Syndrome
Recruiting NCT06337383 - Study of the Prevalence of Autistic Traits in Angelman Syndrome
Recruiting NCT05945576 - IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
Completed NCT02670694 - Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW N/A
Recruiting NCT04768803 - Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or Obesity
Recruiting NCT05630066 - Study to Investigate the Pharmacokinetics and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype. Phase 2
Completed NCT00348933 - Dietary Supplements for the Treatment of Angelman Syndrome N/A
Recruiting NCT05011851 - An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome Phase 2
Terminated NCT03882918 - An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome Phase 3
Completed NCT02996305 - A Study in Adults and Adolescents With Angelman Syndrome (STARS) Phase 2
Completed NCT02056665 - Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome Phase 2
Completed NCT01281475 - A Trial of Levodopa in Angelman Syndrome Phase 2/Phase 3