Natural history study for ASXL3-related neurodevelopmental disorder (Bainbridge-Ropers Syndrome)
Currently enrolling participants
Principal investigators: Meena Balasubramanian (Sheffield Children’s Hospital Foundation Trust) and Emily Woods (Sheffield Children’s Hospital Trust)
About the study
We are writing to ask whether you, or your child, would be interested in taking part in our Natural History Research Study, to further our understanding of ASXL3-related neurodevelopmental disorder (Bainbridge-Ropers Syndrome) over time.
This research builds upon previous work by Dr Balasubramanian’s group, including the largest (45 patient) published cohort of individuals with ASXL3. We want to understand more information about the specific gene changes. We also want to understand more about inherited ASXL3 variants that are seen in more than one individual in the same family.
We aim to eventually share our findings with you. We also hope to share our findings with other Doctors and medical professionals by publishing one (or more) new scientific papers in medical journals. We will not include any names or identifiable data in the publication, but it is usually useful to publish photographs.
We will separately ask for your permission for each aspect of the study and will not do anything without your permission.
What does participation involve?
We are looking to recruit adults and children with Bainbridge-Ropers Syndrome in the UK, and internationally. If you would like to participate in the study, we will ask you to attend a clinic appointment with the research team (face-to-face or virtual) and may require us to contact your Doctor (usually Geneticist) for further clinical details (such as the specifics of a test result). We will then send out a yearly questionnaire for you to update us on your, or your child’s, progress.
In addition, we are also coordinating further studies to help us understand how the genetic change causes the condition. We need to understand how the condition happens in order to progress to thinking about any potential treatments in the future. This study will not include any treatments or medicines. If you have had any blood samples or skin biopsies taken with your own Doctor, we will separately ask if you will allow for these to be sent over to us in Sheffield. If you are based in the UK, and see us face-to face, we can arrange for a new blood or skin biopsy sample, if you have not already had one taken.
How to enroll
If you are interested in finding out more, please confirm your interest by emailing emily.woods2@nhs.net.
Principal investigators
Dr. Meena Balasubramanian
Sheffield Clinical Genetics Service
Sheffield Children’s Hospital Foundation Trust
Dr. Emily Woods
Sheffield Clinical Genetics Service
Sheffield Children’s Hospital Foundation Trust
Use of Clinical Research ID (CRID)
The ARRE Foundation has requested that this study use a CRID, or Clinical Research ID. This is a unique identification number generated and known only to the participant. This ID number allows researchers to merge data across research projects without any personally identifying information from the participant. Please obtain a CRID prior to enrolling in this study, which is a simple online process that takes 2-3 minutes. Thank you for helping us improve data sharing in ASXL research!