ASXL-Related Disorders Registry

ASXL1 Gene Mutation Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03303716
• Other study ID #: CIN_ASXLRegistry_001
• Status: Recruiting
• Start date: September 20, 2017
• Est. completion date: September 2037

Study information

• Verified date: May 2024
• Source: University of California, Los Angeles
• Contact: Bianca Russell, MD
• Phone: (310) 206-6581
• Email: ASXL-CHROMATIN-REGISTRY[@]mednet.ucla.edu
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

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).

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: September 2037
• Est. primary completion date: September 2037
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Clinical or molecular diagnosis of an ASXL related disorder

Exclusion Criteria:

• No clinical or molecular diagnosis of an ASXL related disorder

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
United States	University of California, Los Angeles	Los Angeles	California

Sponsors (4)

Lead Sponsor	Collaborator
University of California, Los Angeles	Boston Children's Hospital, Children's Hospital Medical Center, Cincinnati, Duke University

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Natural history, treatment and management strategies of ASXL-related disorders	Use participant surveys including the GRDR CDE standard questions to collect data on disease history and management. Attain primary medical records with goal of publications to enhance treatment, management and understanding of the natural history of ASXL gene disorders.	20 years