ASXL-Related Disorders Registry

ASXL1 Gene Mutation Clinical Trial

Official title: Clinical Registry for ASXL-Related Disorders and Disorders of Chromatin Remodeling

Status Recruiting

Clinical Trial 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).

Clinical Trial Description

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. ;

Related Conditions & MeSH terms

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

• NCT number: NCT03303716
• Study type: Observational [Patient Registry]
• Source: University of California, Los Angeles
• Contact: Bianca Russell, MD
• Phone: (310) 206-6581
• Email: ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu
• Status: Recruiting
• Start date: September 20, 2017
• Completion date: September 2037