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ASXL-Related Disorders Registry

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ClinicalTrials.gov Identifier: NCT03303716
Recruitment Status : Recruiting
First Posted : October 6, 2017
Last Update Posted : December 1, 2022
Boston Children's Hospital
Children's Hospital Medical Center, Cincinnati
Duke University
Information provided by (Responsible Party):
Bianca E. Russell, MD, University of California, Los Angeles

Brief 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).

Condition or disease
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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 20 Years
Official Title: Clinical Registry for ASXL-Related Disorders and Disorders of Chromatin Remodeling
Actual Study Start Date : September 20, 2017
Estimated Primary Completion Date : September 2037
Estimated Study Completion Date : September 2037

Primary Outcome Measures :
  1. Natural history, treatment and management strategies of ASXL-related disorders [ Time Frame: 20 years ]
    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.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All patients with molecularly proven or suspected ASXL related disorders

Inclusion Criteria:

  • Clinical or molecular diagnosis of an ASXL related disorder

Exclusion Criteria:

  • No clinical or molecular diagnosis of an ASXL related disorder

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03303716

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Contact: Bianca Russell, MD (310) 206-6581 ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu

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United States, California
University of California, Los Angeles Recruiting
Los Angeles, California, United States, 90095
Contact: Bianca Russell, MD    310-206-6581    ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu   
Sponsors and Collaborators
University of California, Los Angeles
Boston Children's Hospital
Children's Hospital Medical Center, Cincinnati
Duke University
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Principal Investigator: Wen-Hann Tan, BMBS Boston Children's Hospital
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
Additional Information:

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Responsible Party: Bianca E. Russell, MD, Bianca Russell, MD, University of California, Los Angeles
ClinicalTrials.gov Identifier: NCT03303716    
Other Study ID Numbers: CIN_ASXLRegistry_001
First Posted: October 6, 2017    Key Record Dates
Last Update Posted: December 1, 2022
Last Verified: November 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Pathologic Processes