BOS/ASXL Registry

This registry has been created to collect information about Bohring-Opitz Syndrome and ASXL related disorders in order to achieve a better understanding of these rare conditions for patients, caregivers and medical professionals.

Research objectives and why it matters

There is still inadequate knowledge and resources about causes, symptoms, quality of life and treatments for Bohring-Opitz Syndrome. Dr. Bianca Russell and Dr. Wen-Hann Tan, who created the “Bohring-Opitz Syndrome (BOS) & ASXL related Disorders Registry” (BOS & ASXL REGISTRY for short) are researchers in charge of the study “A Clinical Registry for Bohring-Opitz Syndrome and other ASXL related Phenotypes”.

By collecting important information in this registry, families and their doctors, can share experiences and knowledge about raising a child with Bohring-Opitz Syndrome and ASXL mutations^[1]. A well run registry helps produce scientific literature and leads to research findings which is crucial to help our children live a better life.

By collecting important information in this registry, families and their doctors, can share experiences and knowledge about raising a child with Bohring-Opitz Syndrome and ASXL mutations^[1]. A well run registry helps produce scientific literature and leads to research findings which is crucial to help our children live a better life. (» read registry updates)

How it works

Individuals (including BOS angels) with a clinical or molecular diagnosis of Bohring-Opitz Syndrome or who have mutations in ASXL genes are invited to contribute to this study which is approved by the hospital ethics committees.

Parents complete simple questionnaires online (about 15-30 minutes) about their child’s medical history and may submit photographs as well as test results and notes from their physicians. Angels will only be surveyed once.

The information is kept on a secure server. Identified information can only be accessed by the researchers in charge of the study. De-identified content may be available to other researchers, members of the registry advisory board, and the study participants.

To be part of the BOS & ASXL REGISTRY, please contact Dr. Bianca Russell (Cincinnati Children’s Hospital)^[2] and Dr. Wen-Hann Tan (Boston Children’s Hospital)^[3] at

ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu

Once you have shown your interest to be part of the registry, the second step includes a phone interview with one of the researchers who are in charge of this study. You will then be asked to sign the consent form to give permission to use and share your child’s health information with the BOS & ASXL REGISTRY. Once signed up, you will have the opportunity to complete short online questionnaires on main topic areas such as medical history and diagnosis, treatment interventions, therapy interventions, as well as growth and development. Your child’s doctor may also be contacted to gather information about your child’s care. Furthermore, you will have the option to submit photographs as well as medical records including clinic notes, test results and imaging studies. An additional option will allow you to share your child’s photograph with Face2gene project. (»Read more about Face2Gene)

When you participate in this registry you receive regular updates about the registry’s progress and the statistical information it yields (only anonymous (de-identified) information is produced) via an occasional newsletter. Your child’s identification will never be revealed.

Participation in the BOS & ASXL REGISTRY is entirely voluntary. Any time after you decide to contribute to the registry, you can change your mind about participating in the registry. You are always able to withdraw your permission to use and share any information about your child at any time.

It is also important to note that your permission will automatically expire at the end of the study.

Privacy and who has access to the Registry

Registries are most useful if they are used for research. That means that the data will be made available to researchers and shared with medical professionals. The privacy of the participants is very important to prevent any breach of confidentiality.

The protected health information of your child is stored in an online REDCap database^[4]. It is a password protected registry and individual identifiers will not be used in publications or reports. Identified information can only be accessed by the researchers in charge of the study. Certain content may be available to other researchers.

Funding

Sponsors and Collaborators

• University of California, Los Angeles
• Boston Children’s Hospital
• Children’s Hospital Medical Center, Cincinnati
• Duke University

Partners

• ASXL Rare Research Endowment (ARRE)
• Bohring-Opitz Syndrome (BOS) Foundation

Investigators

• Principal Investigator: Bianca Russell, MD, University of California, Los Angeles
• 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

Target Follow-Up Duration

20 years. Estimated Study Completion Date September 2037.

Enrolments

137 participants

Newsletter Update:Bewaren

• Bohring-Opitz/ASXL Registry update February 2024
• Bohring-Opitz/ASXL Registry update August 2023
• Bohring-Opitz/ASXL Registry update February 2023
• Bohring-Opitz/ASXL Registry Winter 2022
• Bohring-Opitz/ASXL Registry Spring 2020
• Bohring-Opitz/ASXL Registry April 2019
• ASXL related Disorders – The first year of our registry (Bianca Russell, Research Symposium July 2018) Part 1
• ASXL related Disorders – The first year of our registry (Bianca Russell, Research Symposium July 2018) Part 2
• Bohring-Opitz/ASXL Registry February 2018

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To read more about the patient registry and how to obtain your genetic testing results, please read the leaflet “BOS & ASXL Related Disorders Registry”^[5] and the Recruitment Flyer.

Further detailed information you can find on the U.S. National Libary of Medicine, ClinicalTrials.gov Identifier: NCT03303716

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^[1] ASXL1 (Bohring-Opitz Syndrome), ASXL2 (Shashi-Pena Syndrome) and ASXL3 (Bainbridge-Ropers Syndrome)

^[2] Dr. Bianca Russell, Pediatrics and Human Genetics resident at the Cincinnati Children’s Hospital in Cincinnati, Ohio. Clinical interest: Bohring-Opitz Syndrome. https://www.cincinnatichildrens.org/bio/r/bianca-russell

^[3] Dr. Wen-Hann Tan, Clinical geneticist at Boston Children’s Hospital http://www.childrenshospital.org/doctors/wen-hann-tan.

^[4] REDCap (Research Electronic Data Capture) is a free software application and workflow methodology designed to collect and manage data for research studies.

^[5] Dr. Nicole Weaver: “BOS & ASXL Related Disorders Registry”. Cincinnati Children’s Hospital and Boston Children’s Hospital