ASXL-Related Disorders Registry

• ClinicalTrials.gov Identifier: NCT03303716
• Recruitment Status: Recruiting
• First Posted: October 6, 2017
• Last Update Posted: December 1, 2022
• Sponsor: University of California, Los Angeles
• Collaborators: Boston Children's Hospital; Children's Hospital Medical Center, Cincinnati; Duke University
• Information provided by (Responsible Party): Bianca E. Russell, MD, University of California, Los Angeles

Tracking Information

• First Submitted Date: October 2, 2017
• First Posted Date: October 6, 2017
• Last Update Posted Date: December 1, 2022
• Actual Study Start Date: September 20, 2017
• Estimated Primary Completion Date: September 2037 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: January 22, 2020)

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.

Original Primary Outcome Measures (submitted: October 5, 2017)

Natural history, treatment and management strategies of ASXL gene 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.

• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: ASXL-Related Disorders Registry
• Official Title: Clinical Registry for ASXL-Related Disorders and Disorders of Chromatin Remodeling
• 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.
• Study Type: Observational [Patient Registry]
• Study Design: Observational Model: Cohort; Time Perspective: Prospective
• Target Follow-Up Duration: 20 Years
• Biospecimen: Not Provided
• Sampling Method: Non-Probability Sample
• Study Population: All patients with molecularly proven or suspected ASXL related disorders

Condition

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

• Intervention: Not Provided
• Study Groups/Cohorts: Not Provided
• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Recruiting
• Estimated Enrollment (submitted: January 22, 2020): 200
• Original Estimated Enrollment (submitted: October 5, 2017): 100
• Estimated Study Completion Date: September 2037
• Estimated Primary Completion Date: September 2037 (Final data collection date for primary outcome measure)

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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: Child, Adult, Older Adult
• Accepts Healthy Volunteers: No

Contacts

Contact: Bianca Russell, MD; (310) 206-6581; ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu

• Listed Location Countries: United States

Administrative Information

• NCT Number: NCT03303716
• Other Study ID Numbers: CIN_ASXLRegistry_001
• Has Data Monitoring Committee: Not Provided

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

IPD Sharing Statement

• Plan to Share IPD: Undecided

• Current Responsible Party: Bianca E. Russell, MD, University of California, Los Angeles
• Original Responsible Party: Bianca Russell, Children's Hospital Medical Center, Cincinnati, Bianca Russell, MD
• Current Study Sponsor: University of California, Los Angeles
• Original Study Sponsor: Children's Hospital Medical Center, Cincinnati

Collaborators

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

Investigators

• Principal Investigator: 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

• PRS Account: University of California, Los Angeles
• Verification Date: November 2022