Neuro-GD study – Comparing genetic neurodevelopmental conditions

LOOKING FOR PARTICIPANTS

This project aims to understand the similarities between fragile X syndrome and SYNGAP1 related intellectual disabilities.

 

Background

Conducting clinical trials is essential to identify new therapies. Although we are able to conduct clinical trials for several single gene neurodevelopmental disorders (meaning disorders linked to changes in only one gene), one major issue faced by researchers is that each condition is relatively rare in itself. This means that the development of therapies, treatments, or specific support for each disorder is unlikely. However, taken together these single gene neurodevelopmental conditions are not rare. If it was possible to establish meaningful groupings of single gene disorders that are likely to respond to the same drug, development of new treatments and therapies would become more feasible, and more robust trials could be conducted.

 

Why are we doing this study?

This project focuses on two single gene neurodevelopmental disorders: Fragile X syndrome (caused by mutations in the FMR1 gene) and SYNGAP1-related intellectual disability (caused by mutations in the SYNGAP1 gene). We are aiming to describe how changes to the genetic code influence people with neurodevelopmental conditions, especially regarding their clinical, behavioural, cognitive, and neurological characteristics. Our hope is that this will: 

1) help us better understand people with neurodevelopmental conditions and genetic changes 

2) improve our chances of developing new therapies

3) make it easier to do clinical trials to test new therapies

 

What are we doing?

We are measuring and comparing the clinical profiles and mental abilities of a large group of people with fragile x syndrome or SYNGAP1 related intellectual disability (ID), aged 3 to 65.

 

What is happening at the moment?

We are currently recruiting and testing people who have either fragile x syndrome or SYNGAP1 related ID, as well as a control comparison group that do not have a developmental disorder. We are looking for in any individuals that have either fragile x syndrome or SYNGAP1 related ID, aged between 3 and 65. If you are interested in taking part or would like more information please contact either Damien (damien.wright@ed.ac.uk) or Aisling (akenny3@ed.ac.uk).

 

Is it possible to take part in the project?

Yes, we are currently looking for participants with either fragile x syndrome or SYNGAP1 related ID, aged between 3 and 65. If you are interested in taking part or would like more information please contact either Damien (damien.wright@ed.ac.uk) or Aisling (akenny3@ed.ac.uk). You can find here the recruitment flyer for the study. Read more about the project on the recruitment page here.

 

What does the study involve?

The research involves meeting with us to do some or all of the following, depending on what can be managed:

  • Several questionnaires about the participant’s health and behaviour
  • A clinical interview
  • A number of puzzles that test memory, concentration, and other aspects of cognition
  • An eye-tracking game measuring the participant’s spontaneous cognitive abilities. This will involve them sitting in front of a laptop and watching images on the screen
  • An EEG recording to investigate how the brain activates during specific tasks. This will involve the participant wearing a cap of electrodes whilst they either listen to repeated sounds or sit quietly
  • A neuropsychological assessment on a touchscreen.

Participants do not have to be able to do all of these to take part – any information we can gather is helpful. These tests would normally be done at our research centre in Edinburgh, so ideally, we are looking for participants able to come to Edinburgh in order to complete these assessments. We are aware that this might not be possible for everyone so we may at a later date look at doing these assessments elsewhere in the UK. For participants who do decide to come to Edinburgh we do reimburse travel and accommodation costs.

We offer participants who have a neurodevelopmental condition the possibility to receive a personalised feedback report from some of the test results, which may be helpful when planning and organising care.

 

Where can I get more information?

If you are interested in taking part or would like more information please contact either Damien (damien.wright@ed.ac.uk) or Aisling (akenny3@ed.ac.uk). You can find here the recruitment flyer for the study. Read more about the project on the recruitment page here.

 

What will the results tell us

The results will help us better understand the similarities and differences between fragile x syndrome and SYNGAP1 related ID.  This will raise the possibility of these disorders being more attractive for the development of novel treatments and therapies.

 

Outputs

You can find here a poster giving an overview of the project. This poster was presented at the 2019 SIDB (Simons Institute for the Developing Brain) Retreat.

 

Who is conducting and funding the project?

This study is conducted by Anderw Stanfield (principal investigator), Damien Wright (post doc research fellow) and Aisling Kenny (research assistant).

If you are interested in taking part or would like more information please contact either Damien (damien.wright@ed.ac.uk) or Aisling (akenny3@ed.ac.uk). Damien and Ailsing are also the people who meet the participants during the appointments.

The project is funded by Simons Foundation for Autism Research (The Simons Institute for the Developing Brain), the Patrick Wild Centre and the Wellcome Trust (Institutional Strategic Support Fund).