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) 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 (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) and Dr. Wen-Hann Tan (Boston Children’s Hospital) at
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. 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
- ASXL Rare Research Endowment (ARRE)
- Bohring-Opitz Syndrome (BOS) Foundation
- 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.
Bohring-Opitz/ASXL Registry February 2023
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
To read more about the patient registry and how to obtain your genetic testing results, please read the leaflet “BOS & ASXL Related Disorders Registry” and the Recruitment Flyer.
Further detailed information you can find on the U.S. National Libary of Medicine, ClinicalTrials.gov Identifier: NCT03303716
 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.
 Dr. Nicole Weaver: “BOS & ASXL Related Disorders Registry”. Cincinnati Children’s Hospital and Boston Children’s Hospital
Do you still remember the moment when you are told that your child has Bohring-Opitz Syndrome? That no one had answers to your questions? What? Bohring-Opitz Syndrome? The only thing that was certain was that it was very rare. I still remember this moment as it was yesterday.
I started searching on my own, looking for knowledge and especially seeking families who had, like us, a child with this rare syndrome. And then it happened: finally recognition, children who were just like my little BOS Angel Okketje, parents who have gone through the same thing as we did, parents full of love and pride for their child and parents with the same questions about the ups and downs and the future of their child. It seemed like a puzzle, piece and piece came together, fit together perfectly and slowly, gradually, an overall picture starts forming. We, together with Okke were a piece of this puzzle, like you.
But still there are missing parts. Unanswered questions. This puzzle will need a lot of time and work to be completed, but there is hope! With every child that participates in the BOS patient registry, the picture will become clearer by all the knowledge gained from it. For that your contribution is essential and extremely important. No information about your experiences and the health of your child is too small. It will help to get a better picture of Bohring-Opitz Syndrome that children live a better life.
Are you the missing puzzle piece? Stop waiting and register today. Now is the time you can help the BOS family and your own child. It is easy. Just send an email to Dr. Bianca Russell (Cincinnati Children’s Hospital) and Dr. Wen-Hann Tan (Boston Children’s Hospital) at ASXLRegistry@cchmc.org to be part of the BOS & ASXL REGISTRY. Thank you!
Wish you all happy holidays. Merry Christmas!
my son new in bos
My son has bohring -opitz syndrome, we has told when he was 2 months old, and he has weight issues, and pukes a lot, they keep changing the calories to his formula but it’s to rich for him, and we really can’t get no answer or help on feeding. And he is allergic to cows milk an soy. They are going off of a regular baby chart for him, and they have a bos chart, and by that he is doing pretty good, but we need help with him. And it’s like they wants us to force feed him and I don’t not like that at all!