Status:
RECRUITING
ASXL-Related Disorders Natural History Study
Lead Sponsor:
University of California, Los Angeles
Collaborating Sponsors:
Boston Children's Hospital
Children's Hospital Medical Center, Cincinnati
Conditions:
Bohring-Opitz Syndrome
ASXL1 Gene Mutation
Eligibility:
All Genders
Brief Summary
A registry focused on the natural history, management and treatment of patients with Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).
Detailed Description
Study participants will be asked to complete a series of brief surveys over time about their medical condition. The researchers will also attain primary medical records.The registry is based at UCLA a...
Eligibility Criteria
Inclusion
- Clinical or molecular diagnosis of an ASXL related disorder
Exclusion
- No clinical or molecular diagnosis of an ASXL related disorder
Key Trial Info
Start Date :
September 20 2017
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
September 1 2037
Estimated Enrollment :
200 Patients enrolled
Trial Details
Trial ID
NCT03303716
Start Date
September 20 2017
End Date
September 1 2037
Last Update
December 26 2025
Active Locations (1)
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1
University of California, Los Angeles
Los Angeles, California, United States, 90095