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ASXL-Related Disorders Registry

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ClinicalTrials.gov Identifier: NCT03303716
Recruitment Status : Recruiting
First Posted : October 6, 2017
Last Update Posted : December 1, 2022
Sponsor:
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.
Change History
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

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
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
Removed Location Countries  
 
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