Natural History Study for Bainbridge-Ropers Syndrome (ASXL3)

About the study

This study is led by Meena Balasubramanian (Sheffield Children’s Hospital Foundation Trust) and Emily Woods (Sheffield Children’s Hospital Trust) and seeks to further the 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. The study team aims to understand more information about the specific gene changes. The study team also aims to understand more about inherited ASXL3 variants that are seen in more than one individual in the same family.

The study team aims to eventually share our findings with you. They also hope to share their findings with other Doctors and medical professionals by publishing one (or more) new scientific papers in medical journals. They will not include any names or identifiable data in the publication, but it is usually useful to publish photographs.

The study team will separately ask for your permission for each aspect of the study and will not do anything without your permission.

What does participation involve?

The study team is looking to recruit adults and children with Bainbridge-Ropers Syndrome in the UK, and internationally. If you would like to participate in the study, the study team will ask you to attend a clinic appointment with the research team (face-to-face or virtual) and may require them to contact your Doctor (usually Geneticist) for further clinical details (such as the specifics of a test result). They will then send out a yearly questionnaire for you to update them on your, or your child’s, progress.

In addition, the study team is also coordinating further studies to help understand how the genetic change causes the condition. The seek 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, the study team 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 the study team face-to face, they can arrange for a new blood or skin biopsy sample, if you have not already had one taken.

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