Summary

Location
at UCLA
Dates
study started
estimated completion
Principal Investigator
by Bianca Russell, MD (ucla)

Description

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).

Official Title

Clinical Registry for ASXL-Related Disorders and Disorders of Chromatin Remodeling

Details

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 as the IRB of record with collaborating sites at Boston Children's Hospital, Cincinnati Children's Hospital, and Duke University in a partnership with the Bohring-Opitz Syndrome (BOS) Foundation and ASXL-Rare Research Endowment (ARRE). The BOS Foundation and ARRE are non-profit organizations run by families of patients with ASXL-related disorders that are focused on supporting research. The data is co-managed by the researchers and the family groups. Aggregate data from the Registry will be shared with the participants as well as used for publication. The Registry is HIPPA compliant and follows all the IRB requirements regarding securing and managing patient data.

Keywords

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

Eligibility

You can join 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

Location

  • University of California, Los Angeles accepting new patients
    Los Angeles California 90095 United States

Lead Scientist at University of California Health

  • Bianca Russell, MD (ucla)
    HS Assistant Clinical Professor, Pediatrics, Medicine. Authored (or co-authored) 7 research publications

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, Los Angeles
ID
NCT03303716
Study Type
Observational [Patient Registry]
Participants
Expecting 200 study participants
Last Updated