ASXL-Related Disorders Natural History Study

Recruiting now

Conditions studied: Bohring-Opitz Syndrome, ASXL1 Gene Mutation, Shashi-Pena Syndrome, ASXL2 Gene Mutation, Bainbridge-Ropers Syndrome, ASXL3 Gene Mutation

In brief

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).

Key facts

Study ID

NCT03303716

Run by

University of California, Los Angeles

People needed

200

Starts

2017-09-20

Expected to finish

2037-09-01

Last updated by the study team

2025-12-26

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Clinical or molecular diagnosis of an ASXL related disorder

You may not qualify if…

• No clinical or molecular diagnosis of an ASXL related disorder

Where it is running

• University of California, Los Angeles — Los Angeles, California, United States (enrolling)

Full record on ClinicalTrials.gov

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