Neuroimaging in Rasopathies
Research type
Research Study
Full title
Understanding learning in the Rasopathies
IRAS ID
322680
Contact name
Shruti Garg
Contact email
Sponsor organisation
University of Manchester
Clinicaltrials.gov Identifier
NHS002089, Study reference number
Duration of Study in the UK
4 years, 3 months, 30 days
Research summary
Much of the real life impact of Rasopathies including Neurofibromatosis type 1 (NF1) and Noonan's Syndrome (NS) in children and families relates to learning and behavioural difficulties with long term consequences on academic and occupational functioning. Problems with working memory are particularly relevant for day-to-day functioning since they are important for listening and following instructions, as well as reasoning and making decisions. The aim of this study is to understand the brain mechanisms underlying working memory difficulties in NF1 and Noonan Syndrome (NS), and to better understand the brain chemical imbalances and explore the brain-behaviour relationship underlying cognitive deficits and behavioural difficulties. This study will investigate how brain chemicals (known as GABA and Glutamate) relate to working memory difficulties in children with NF1 and NS as compared to healthy controls. In addition, we will investigate how these brain chemical differences relate to working memory function in the NF1 and NS. We will also explore how these pathways affect learning processes, interoception (the ability to sense the internal state of one’s own body) and emotion. A better understanding of these difficulties and the underlying brain chemical pathways will also help us develop potential new treatment strategies in the future.
The study will be conducted at the NIHR-Wellcome trust Clinical Research Facility (CRF) located at the Grafton Street, Manchester. The duration of the study is 4 hours. Participants will undergo MRI research scans, cognitive assessments and fill in behavioural questionnaires.
REC name
North West - Haydock Research Ethics Committee
REC reference
23/NW/0182
Date of REC Opinion
20 Jul 2023
REC opinion
Further Information Favourable Opinion