Bohring-Opitz SyndromeNCT03303716
ASXL-Related Disorders Natural History Study
An observational study of Bohring-Opitz Syndrome and ASXL1 Gene Mutation, run by University of California, Los Angeles at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Bohring-Opitz Syndrome, ASXL1 Gene Mutation, Shashi-Pena Syndrome
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 20 Sep 2017to Sep 2037
- How long will I take part?
- 20 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: All patients with molecularly proven or suspected ASXL related disorders
Who may be able to join
- Clinical or molecular diagnosis of an ASXL related disorder
Who cannot join
- No clinical or molecular diagnosis of an ASXL related disorder
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of California, Los Angeles
Los Angeles, California, 90095
Bianca Russell, MD, 310-206-6581, ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu
About this study
Official title: Natural History Study for the ASXL-Related Disorders and Chromatinopathies
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).
Read the 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.
- Conditions
- Bohring-Opitz Syndrome, ASXL1 Gene Mutation, Shashi-Pena Syndrome, ASXL2 Gene Mutation, Bainbridge-Ropers Syndrome, ASXL3 Gene Mutation
- Medical subject headings
- Bohring syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 20 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Oct 2017
- Study start20 Sep 2017
- Primary completionSep 2037 (estimated)
- Study completionSep 2037 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Bohring-Opitz SyndromeStudies of the same condition, open and under way.
- More trials run by University of California, Los AngelesThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
- Target duration
- 20 Years
Sponsor and investigators
- Lead sponsor
- University of California, Los Angeles
- Sponsor type
- University, hospital or other
- Collaborators
- Boston Children's Hospital, Children's Hospital Medical Center, Cincinnati, Duke University
- Responsible party
- Principal investigator, Bianca E. Russell, MD, University of California, Los Angeles
- Investigators
- Wen-Hann Tan, BMBS, Principal investigator, Boston Children's HospitalLoren Pena, MD, PhD, Principal investigator, Children's Hospital Medical Center, CincinnatiVandana Shashi, MD, PhD, Principal investigator, Duke UniversityBianca Russell, MD, Principal investigator, University of California, Los Angeles
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03303716
- Sponsor's protocol ID
- CIN_ASXLHistory_001
- Status last verified
- Dec 2025
- First submitted
- 2 Oct 2017
- Last updated
- 26 Dec 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 26 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study for the ASXL-Related Disorders and Chromatinopathies
- ClinicalTrials.gov ID
- NCT03303716
- Acronym / sponsor ID
- CIN_ASXLHistory_001
- Conditions
- Bohring-Opitz Syndrome, ASXL1 Gene Mutation, Shashi-Pena Syndrome, ASXL2 Gene Mutation, Bainbridge-Ropers Syndrome, ASXL3 Gene Mutation
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- University of California, Los AngelesUniversity, hospital or other
- Collaborators
- Boston Children's Hospital, Children's Hospital Medical Center, Cincinnati, Duke University
- Study start
- 20 Sep 2017 (actual)
- Primary completion
- Sep 2037 (estimated)
- Study completion
- Sep 2037 (estimated)
- First posted
- 6 Oct 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 20 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients with molecularly proven or suspected ASXL related disorders
Key inclusion criteria (1 listed)
- Clinical or molecular diagnosis of an ASXL related disorder
Key exclusion criteria (1 listed)
- No clinical or molecular diagnosis of an ASXL related disorder
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Dec 2025.
- Individual participant dataSharing planned: Undecided
Related trials for Bohring-Opitz Syndrome
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Wen-Hann Tan, BMBS principal investigator
Boston Children's Hospital
Loren Pena, MD, PhD principal investigator
Children's Hospital Medical Center, Cincinnati
Vandana Shashi, MD, PhD principal investigator
Duke University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Bohring-Opitz Syndrome and ASXL1 Gene Mutation, run by University of California, Los Angeles at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 26 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Bianca Russell, MD ((310) 206-6581, ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Natural history, treatment and management strategies of ASXL-related disorders (time frame: 20 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Dec 2025.