ASXL-Related Disorders Registry

Description

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, ASXL3 Gene Mutation

Study Overview

Study Details

Study overview

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).

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

ASXL-Related Disorders Registry

Condition
Bohring-Opitz Syndrome
Intervention / Treatment

-

Contacts and Locations

Los Angeles

University of California, Los Angeles, Los Angeles, California, United States, 90095

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Clinical or molecular diagnosis of an ASXL related disorder
  • * No clinical or molecular diagnosis of an ASXL related disorder

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of California, Los Angeles,

Wen-Hann Tan, BMBS, PRINCIPAL_INVESTIGATOR, Boston Children's Hospital

Loren Pena, MD, PhD, PRINCIPAL_INVESTIGATOR, Children's Hospital Medical Center, Cincinnati

Vandana Shashi, MD, PhD, PRINCIPAL_INVESTIGATOR, Duke University

Bianca Russell, MD, PRINCIPAL_INVESTIGATOR, University of California, Los Angeles

Study Record Dates

2037-09