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NCT Number: NCT03303716

ASXL-Related Disorders Natural History Study

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).

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Key information

Conditions

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

Sex eligibility

All sexes

Study type

Observational

Primary location

University of California, Los Angeles

Los Angeles, California, 90095, United States

Location status: Recruiting

Location contact

Bianca Russell, MD

CONTACT

[email protected]

310-206-6581

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Clinical or molecular diagnosis of an ASXL related disorder

Exclusion criteria

  • No clinical or molecular diagnosis of an ASXL related disorder

Treatment and study plan

Primary outcomes

  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.

Study contacts

Contact information is provided by the study sponsor or research team.

Bianca Russell, MD

CONTACT

[email protected]

(310) 206-6581

Sponsors and collaborators

Lead sponsor

University of California, Los Angeles

Other

Collaborators

  • Boston Children's Hospital
  • Children's Hospital Medical Center, Cincinnati
  • Duke University

Registry information

Official study title

Natural History Study for the ASXL-Related Disorders and Chromatinopathies

Important dates

Study start
2017
Primary completion
2037
Study completion
2037
First posted
Oct 6, 2017
Registry last updated
Dec 26, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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