Natural history study of Angelman Syndrome
Angelman Syndrome Natural History Study
This study is trying to learn more about how Angelman Syndrome affects children and adults over time to help improve care and future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 11 sites (Los Angeles, California and 10 other locations) |
| Trial ID | NCT04507997 on ClinicalTrials.gov |
What this trial studies
This observational study aims to gather comprehensive data on the long-term natural history of Angelman Syndrome in children and adults. By utilizing both investigator-observed and parent-reported outcome measures, the study seeks to establish Angelman-specific norms that can inform future clinical trials. The findings will enhance the understanding of the condition and ultimately improve care for individuals affected by Angelman Syndrome.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a confirmed molecular diagnosis of Angelman Syndrome.
Not a fit: Patients with another neurodevelopmental condition unrelated to Angelman Syndrome may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights that lead to improved treatment and care strategies for patients with Angelman Syndrome.
How similar studies have performed: Other studies focusing on the natural history of genetic disorders have shown success in improving understanding and treatment approaches, making this study a valuable addition to the field.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Molecular diagnosis of Angelman syndrome Exclusion Criteria: * Presence of another condition, unrelated to Angelman syndrome, that affects neurodevelopment
Where this trial is running
Los Angeles, California and 10 other locations
- Cedars-Sinai Guerin Children's — Los Angeles, California, United States (Not_yet_recruiting)
- Rady Children's Hospital, San Diego — San Diego, California, United States (Recruiting)
- Children's Hospital Colorado, Anschutz Medical Campus — Aurora, Colorado, United States (Recruiting)
- Emory University School of Medicine — Atlanta, Georgia, United States (Recruiting)
- Rush University Children's Hospital — Chicago, Illinois, United States (Recruiting)
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
- The Carolina Institute for Developmental Disabilities — Carrboro, North Carolina, United States (Recruiting)
- Monroe Carell Jr. Children's Hospital at Vanderbilt — Nashville, Tennessee, United States (Recruiting)
- Alberta Children's Hospital — Calgary, Alberta, Canada (Recruiting)
- BC Children's Hospital — Vancouver, British Columbia, Canada (Recruiting)
- Children's Hospital of Eastern Ontario — Ottawa, Ontario, Canada (Recruiting)
Study contacts
- Study coordinator: Wen-Hann Tan, BMBS
- Email: wen-hann.tan@childrens.harvard.edu
- Phone: 617-355 6394
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.