Recruiting

Observational StudyASXL-Related Disorders Natural History Study

Sponsor:

UCLA

Code:

NCT03303716

Conditions

Bohring-Opitz Syndrome

ASXL1 Gene Mutation

Shashi-Pena Syndrome

ASXL2 Gene Mutation

Bainbridge-Ropers Syndrome

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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).

Conditions

Bohring-Opitz Syndrome

ASXL1 Gene Mutation

Shashi-Pena Syndrome

ASXL2 Gene Mutation

Bainbridge-Ropers Syndrome

Study ID

NCT03303716

Start date

Sep 20, 2017

Status verified date

Dec, 2025

Completion date

Sep, 2037

Anticipated

Primary completion date

Sep, 2037

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

Clinical or molecular diagnosis of an ASXL related disorder

Exclusion Criteria:

No clinical or molecular diagnosis of an ASXL related disorder

Study Design

Enrollment

200 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

Natural history, treatment and management strategies of ASXL-related disorders [ Time Frame: 20 years ]

Central Contacts and Locations

Central contacts

Bianca Russell, MD

(310) 206-6581 ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu

Locations

University of California, Los Angeles

Recruiting

Los Angeles, California, United States, 90095

Contacts

Bianca Russell, MD

310-206-6581 ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu

More Information

Sponsor

University of California, Los Angeles

Last update posted

Dec 26, 2025

Last verified

Dec, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by University of California, Los Angeles on 2025-12-26.