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RecruitingNCT03303716

ASXL-Related Disorders Natural History Study

Natural History Study for the ASXL-Related Disorders and Chromatinopathies

Sponsor

University of California, Los Angeles

Enrollment

200 participants

Start Date

Sep 20, 2017

Study Type

OBSERVATIONAL

Conditions

Bohring-Opitz SyndromeASXL1 Gene MutationShashi-Pena SyndromeASXL2 Gene MutationBainbridge-Ropers SyndromeASXL3 Gene Mutation

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).

Eligibility

Inclusion Criteria1

  • Clinical or molecular diagnosis of an ASXL related disorder

Exclusion Criteria1

  • No clinical or molecular diagnosis of an ASXL related disorder

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Locations(1)

University of California, Los Angeles

Los Angeles, California, United States

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NCT03303716

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