Natural history observation for Angelman syndrome patients
A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in CHR Citadelle Liège : NatHis-Angelman
This study is trying to learn more about how Angelman syndrome affects patients over nine years by regularly checking their motor skills, thinking abilities, and quality of life.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Sex | All |
| Sponsor | Centre Hospitalier Universitaire de Liege Academic / other |
| Locations | 1 site (Liège, Liège) |
| Trial ID | NCT06229769 on ClinicalTrials.gov |
What this trial studies
This observational study aims to gather comprehensive data over nine years on patients with Angelman syndrome, a genetic neurodevelopmental disorder. It includes a three-year recruitment phase followed by a five-year follow-up, during which 30 patients will be assessed semi-annually. Investigators will collect both retrospective and prospective data using standardized scales and questionnaires to evaluate functional motor skills, cognitive abilities, and overall quality of life. The study will involve regular medical reviews, cognitive assessments, and developmental evaluations to better understand the progression of the condition.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals of any age with a genetically confirmed diagnosis of Angelman syndrome.
Not a fit: Patients with comorbidities that could affect the study results may not benefit from participation.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the natural progression of Angelman syndrome, potentially leading to improved care and treatment strategies for patients.
How similar studies have performed: While this study focuses on the natural history of Angelman syndrome, similar observational studies have successfully provided insights into other genetic disorders, suggesting potential for valuable findings here.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Liège, Liège
- CHR Citadelle Liège — Liège, Liège, Belgium (Recruiting)
Study contacts
- Principal investigator: Laura Vanden Brande — CHR Citadelle
- Study coordinator: Noor Benmhammed
- Email: Noor.Benmhammed@citadelle.be
- Phone: 43217726
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.