ASXL-Related Disorders Registry

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

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).

Study Overview

• Status: Recruiting
• Conditions: Bohring-Opitz Syndrome; ASXL1 Gene Mutation; Shashi-Pena Syndrome; ASXL2 Gene Mutation; Bainbridge-Ropers Syndrome; ASXL3 Gene Mutation

Detailed 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.

• Study Type: Observational
• Enrollment (Anticipated): 200

Contacts and Locations

• Study Contact: Name: Bianca Russell, MD; Phone Number: (310) 206-6581; Email: ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu

Study Locations

• United States
  • California
    • Los Angeles, California, United States, 90095
      • Recruiting
      • University of California, Los Angeles
      • Contact: Bianca Russell, MD; Phone Number: 310-206-6581; Email: ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

All patients with molecularly proven or suspected ASXL related disorders

Description

Inclusion Criteria:

• Clinical or molecular diagnosis of an ASXL related disorder

Exclusion Criteria:

• No clinical or molecular diagnosis of an ASXL related disorder

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: University of California, Los Angeles
• Collaborators: Boston Children's Hospital; Duke University; Children's Hospital Medical Center, Cincinnati
• Investigators: Principal Investigator: Loren Pena, MD, PhD, Children's Hospital Medical Center, Cincinnati; Principal Investigator: Vandana Shashi, MD, PhD, Duke University; Principal Investigator: Bianca Russell, MD, University of California, Los Angeles

Study record dates

Study Major Dates

• Study Start (Actual): September 20, 2017
• Primary Completion (Anticipated): September 1, 2037
• Study Completion (Anticipated): September 1, 2037

Study Registration Dates

• First Submitted: October 2, 2017
• First Submitted That Met QC Criteria: October 5, 2017
• First Posted (Actual): October 6, 2017

Study Record Updates

• Last Update Posted (Actual): December 1, 2022
• Last Update Submitted That Met QC Criteria: November 29, 2022
• Last Verified: November 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease; Syndrome
• Other Study ID Numbers: CIN_ASXLRegistry_001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Undecided

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No