ASXL-Related Disorders Natural History Study

Natural History Study for the ASXL-Related Disorders and Chromatinopathies

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03303716

Enrollment

200

Registered

2017-10-06

Start date

2017-09-20

Completion date

2037-09-30

Last updated

2025-12-26

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

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).

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* Clinical or molecular diagnosis of an ASXL related disorder

Exclusion criteria

* No clinical or molecular diagnosis of an ASXL related disorder

Design outcomes

Primary

Measure	Time frame	Description
Natural history, treatment and management strategies of ASXL-related disorders	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.

Countries

United States

Contacts

Primary ContactBianca Russell, MD

ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu(310) 206-6581

Outcome results