NCT03303716

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).

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
138mo left

Started Sep 2017

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress43%
Sep 2017Sep 2037

Study Start

First participant enrolled

September 20, 2017

Completed
12 days until next milestone

First Submitted

Initial submission to the registry

October 2, 2017

Completed
4 days until next milestone

First Posted

Study publicly available on registry

October 6, 2017

Completed
19.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2037

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 1, 2037

Last Updated

December 26, 2025

Status Verified

December 1, 2025

Enrollment Period

20 years

First QC Date

October 2, 2017

Last Update Submit

December 18, 2025

Conditions

ASXL1 Gene MutationShashi-Pena SyndromeASXL2 Gene MutationBainbridge-Ropers SyndromeASXL3 Gene MutationBohring-Opitz Syndrome

Outcome Measures

Primary Outcomes (1)

  • 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

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

All patients with molecularly proven or suspected ASXL related disorders

You may qualify if:

  • Clinical or molecular diagnosis of an ASXL related disorder

You may not qualify if:

  • No clinical or molecular diagnosis of an ASXL related disorder

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of California, Los Angeles

Los Angeles, California, 90095, United States

RECRUITING

MeSH Terms

Conditions

Bohring syndrome

Study Officials

  • 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

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Bianca Russell, MD

CONTACT

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

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
20 Years
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Bianca Russell, MD

Study Record Dates

First Submitted

October 2, 2017

First Posted

October 6, 2017

Study Start

September 20, 2017

Primary Completion (Estimated)

September 1, 2037

Study Completion (Estimated)

September 1, 2037

Last Updated

December 26, 2025

Record last verified: 2025-12

Locations

US(1)