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
Now is the time when you can help the BOS community. 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) and they 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. A well run registry helps produce scientific literature and leads to research findings which is crucial to help our children live a better life.
How it works
Individuals with a clinical or molecular diagnosis of Bohring-Opitz Syndrome or who have mutations in ASXL genes are invited to contribute to this study.
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)
With appropriate enrollment you will be asked to complete three to four surveys over the course of one year. BOS Angels will be surveyed once. The questionnaires are composed by family members, researchers and BOS foundation members (the “BOS Registry Advisory Board”, BOSRAB for short) who help to make sure that the registry best suits the needs of the community.
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. 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.
Sponsors and Collaborators
- University of California, Los Angeles
- Boston Children’s Hospital
- Children’s Hospital Medical Center, Cincinnati
- Duke University
- 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
We are very excited about this registry and thank Dr. Bianca Russell and Dr. Wen-Hann Tan for their hard work and dedication to the BOS Family.
Further detailed information you can find on the U.S. National Libary of Medicine, ClinicalTrials.gov Identifier: NCT03303716
More information of the registry you can find on the website of the ASXL Rare Research Endowment Foundation (ARRE Foundation)
Whether your loved one is a child or an Angel with Bohring-Opitz Syndrome, please consider registering — this is a resource that will serve and benefit us all.
 ASXL1 (Bohring-Opitz Syndrome), ASXL2 (Shashi-Pena Syndrome) and ASXL3 (Bainbridge-Ropers Syndrome)
 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
 Dr. Wen-Hann Tan, Clinical geneticist at Boston Children’s Hospital http://www.childrenshospital.org/doctors/wen-hann-tan.
 REDCap (Research Electronic Data Capture) is a free software application and workflow methodology designed to collect and manage data for research studies.