ASXL-Related Disorders Natural History Study

ConditionsBohring-Opitz Syndrome ASXL1 Gene Mutation Shashi-Pena Syndrome ASXL2 Gene Mutation Bainbridge-Ropers Syndrome ASXL3 Gene Mutation

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorUniversity of California, Los Angeles

About this trial

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).

Eligibility criteria

Qualifiers

Clinical or molecular diagnosis of an ASXL related disorder

Disqualifiers

No clinical or molecular diagnosis of an ASXL related disorder

Trial design

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Locations

University of California, Los Angeles90095, Los AngelesCalifornia, United States

Sponsors and collaborators

University of California, Los Angeles

Lead sponsor

Boston Children's Hospital

Collaborator

Children's Hospital Medical Center, Cincinnati

Collaborator

Duke University

Collaborator

Source ClinicalTrials.gov