ASXL-Related Disorders Natural History Study | NCT03303716

Studies
ASXL-Related Disorders Natural History Study

NCT03303716

Sponsor

University of California, Los Angeles

Status

Recruiting

Last Update Posted

Dec 26, 2025Actual

Enrollment

200Estimated

Phase

Not provided

Conditions

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

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Dec 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 20, 2017Actual

Primary Completion Date

Sep 2037Estimated

Completion Date

Sep 2037Estimated

First Submitted Date

Oct 2, 2017

First Submission Date that Met QC Criteria

Oct 5, 2017

First Posted Date

Oct 6, 2017Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Dec 18, 2025

Last Update Posted Date

Dec 26, 2025Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Bianca E. Russell, MD, Bianca Russell, MD, University of California, Los AngelesPrincipal Investigator

Lead Sponsor

University of California, Los AngelesOTHER

Collaborators

Name	Class
Boston Children's Hospital	OTHER
Children's Hospital Medical Center, Cincinnati	OTHER
Duke University	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Yes

Target Follow-Up Duration

20 Years

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

200Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Clinical or molecular diagnosis of an ASXL related disorder

Exclusion Criteria:

No clinical or molecular diagnosis of an ASXL related disorder

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

All patients with molecularly proven or suspected ASXL related disorders

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Bianca Russell, MD	Contact	(310) 206-6581		ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu

Overall Officials

Name	Affiliation	Role
Wen-Hann Tan, BMBS	Boston Children's Hospital	Principal Investigator
Loren Pena, MD, PhD	Children's Hospital Medical Center, Cincinnati	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
University of California, Los Angeles	Recruiting	Los Angeles	California	90095	United States

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
C537419	Bohring syndrome

Ancestor Terms

Not provided

Browse Leaves

Not provided

Browse Branches

Not provided