Establishing an international ASXL3 registry and research portal
Research type
Research Study
Full title
Establishing an international ASXL3 gene registry and research portal
IRAS ID
316055
Contact name
Meena Balasubramanian
Contact email
Sponsor organisation
Sheffield Children's NHS Foundation Trust
Duration of Study in the UK
6 years, 0 months, 0 days
Research summary
Background: ASLX3-related disorder, also known as Bainbridge-Ropers syndrome, is a newly described syndrome characterised by developmental delay and learning difficulties. It is caused by disease-causing changes in a gene called ASXL3. Common features include: speech and feeding difficulties, behavioural difficulties and autistic traits, bone and teeth problems and seizures. Children share similar facial features and can have abnormal brain scans. Features can be seen in varying degrees and are not yet predictable as to the severity any one child will develop. We want to develop an international registry of patients with ASXL3 and collect natural history and longitudinal data. The short term goal is to become a point-of-contact specific clinic for patients, along with their families. The long term goal is improving evaluation of the gene and what it means in terms of individualised patient-centred care going forward.
Approach: We will be collecting clinical and genotypic data on all participants. In addition, using cells (blood) obtained from ASXL3 patients, we will analyse the genetic variants.
Outcome: ASXL3 is one of the top ten genes in which disease-causing variants have been found in recent large-scale genetic studies into developmental delay and learning difficulties in children. We expect there to be significantly more with increasing use of new genetic technologies.
Impact: We currently have the largest cohort of ASXL3-related disorder in the UK; with over 40 families in the UK ASXL3 support group, therefore the project proposal is ideally located for immediate benefit. This work is timely because it forms a basis for future functional studies that are a stepping stone for potential future research into gene therapies.
REC name
South Central - Berkshire Research Ethics Committee
REC reference
23/SC/0151
Date of REC Opinion
22 May 2023
REC opinion
Favourable Opinion