Bohring-Opitz SyndromeRare diseaseGenetics
What this study is
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).
Study details
- Official title
- Natural History Study for the ASXL-Related Disorders and Chromatinopathies
- Sponsor
- University of California, Los Angeles
- Conditions
- Bohring-Opitz Syndrome · ASXL1 Gene Mutation · Shashi-Pena Syndrome · ASXL2 Gene Mutation · Bainbridge-Ropers Syndrome · ASXL3 Gene Mutation
- Enrolling
- 200 people
- Starts
- 2017-09-20
- Est. completion
- 2037-09
- Record
- View on ClinicalTrials.gov ↗
Who can join
Sex ALLHealthy volunteers Not acceptedYou may qualify if
- Clinical or molecular diagnosis of an ASXL related disorder
You can't join if
- No clinical or molecular diagnosis of an ASXL related disorder
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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1
Study locations (1)
1 openUniversity of California, Los Angeles
Los Angeles, California, United States
- Bianca Russell, MD · Contact310-206-6581ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu
Recruiting
Study team
Sponsor
University of California, Los Angeles
Study ID CIN_ASXLHistory_001
Principal investigator
Wen-Hann Tan, BMBS
Boston Children's Hospital
Principal investigator
Loren Pena, MD, PhD
Children's Hospital Medical Center, Cincinnati
Principal investigator
Vandana Shashi, MD, PhD
Duke University
Principal investigator
Bianca Russell, MD
University of California, Los Angeles
Have questions? The contacts above can answer them before you apply.
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.