Friends of Fragile X

Women with the Fragile X Premutation University of Surrey study into the social and emotional wellbeing of women with the Fragile X premutation University of Surrey is currently looking for women with the Fragile X premutation to take part in their new research on social and emotional wellbeing. The accompanying flyer (below) contains more information about what participation would entail. In addition to completing some online and in-person tasks, participants will also have the opportunity to share their experiences of living with the Fragile X premutation. If you have any questions or would like to participate, please email gillian.hughes@surrey.ac.uk

We have been asked to inform you of a new study being run by the Cerebra Network, called the BEOND (Behavioural and Emotional Outcomes in Neurodevelopmental Disorders) survey. The survey is for parents and caregivers of children and adults with rare genetic syndromes, including Fragile X Syndrome, and neurodevelopmental conditions. You will be asked to respond to a variety of questions. Through your answers, the researchers will learn more about behaviour, wellbeing, emotion, cognition and health in children and adults with Fragile X Syndrome, as well as understanding more about access to support, service use, and family wellbeing. This ambitious survey will be repeated several times over the next few years. The researchers hope that many families will choose to take part at multiple points so that they can see how responses change over time and get a much better insight into development in Fragile X Syndrome across the lifespan. Researchers across the Cerebra Network will be using the wealth of data collected in the BEOND study to address the concerns of families with Fragile X Syndrome. Those families who completed the survey will receive individualised feedback reports to put that information back into your hands. There is a QR code and a link included in the flyer (below) which will take you here: https://www.cerebranetwork.com/beond-fxs where you can watch a video about the study, read a brief description and click through to the survey.

We have had notification of some research being conducted as part of a PhD at the University of Wolverhampton. It concerns the political engagement of people with learning disabilities. What limited research there is demonstrates a significantly lower voting rate among people with learning difficulties than for the general population. While some people with learning disabilities actively choose not to vote, there is evidence that some want to vote but do not do so. Researchers are looking for family carers of people with learning difficulties, support staff of people with learning disabilities and members of the general population who do not fit into either of the two other groups to complete their survey. This study is interested in whether there are any relationships between peoples’ political opinions and attitudes towards people with learning disabilities. The research will also consider how people have helped people with learning disabilities to vote at recent UK general elections. Researchers hope to better understand the links between underlying political opinions and attitudes towards voting by people with learning disabilities. It will give greater insight into people with learning disabilities’ election experiences. It may also help to improve their experiences. Participants will be asked to complete an anonymous online survey. Participants will also be asked questions about any experiences they may have of assisting somebody with a learning disability to vote in a recent general election. The survey is accessed via a generic link. It takes 15-20 minutes to complete and is entirely anonymous. No previous knowledge of voting is required. To be involved participants must be aged 18 or over and have lived in the UK for 12 months or more since 2018 (to ensure some knowledge of the British system/voting process). Participants are first asked to read through an information sheet, which gives them more details about the research. They are then asked to complete a consent form before completing the survey. At the end of the study there is a debrief form giving participants more information about the research. https://wolverhamptonpsych.eu.qualtrics.com/jfe/form/SV_ehyCmYCwqjrbfXU The first page of this is the information sheet, which includes more in-depth details about the study. This can be downloaded here. Clicking through to the second page will display the consent form and the survey.

This is a clinical trial for 3-17 year olds with Fragile X Syndrome which aims to test the safety and effectiveness of a possible new medicine which is currently being developed by a pharmaceutical company called Zynerba. The medicine being trialled is a cannabidiol gel which is rubbed into the skin twice daily. In previous studies the gel has been found to potentially help with irritability and social anxiety / avoidance in some people with Fragile X Syndrome. The RECONNECT study aims to confirm the results seen in these earlier trials. This research is being organised by Zynerba (the company who make the gel), and the Chief Investigator in the UK is Dr Andy Stanfield from the Patrick Wild Centre at the University of Edinburgh. As well as the UK, the study is also happening in Ireland, Australia and the USA. The trial is a double-blind randomised placebo controlled study. This means that some participants will be given the active gel, while others will be given a placebo gel (i.e. a gel with no active medicine in it). This allows the researchers to see if the active medicine works better than the placebo. The study treatment period is 18 weeks long in total and during that time you would be expected to attend 4 appointments in person and 4 appointments online. At the visits there will be various assessments carried out, including questionnaires for carers and physical checks for the young person with Fragile X Syndrome (including occasional blood tests). There are 5 study sites planned for across the UK: London, Leicester, Edinburgh, Manchester and Cardiff. At the moment, three of the sites are ‘open’ (starting to recruit participants) – London, Leicester and Manchester. As more sites are opened we will update this information. Any travel costs incurred will be reimbursed by Zynerba. If you are interested in finding out more about the study then there is a study website – www.fragilexhelp.co.uk – with more information. You can enter your details on this website if you want to be contacted to find out more about the study. Alternatively you can get in touch with the research teams at any of the open sites directly via the contact details below: Cardiff contact details will be added when the site is open Edinburgh contact the Patrick Wild Centre directly at pwcresearch@ed.ac.uk Leicester Professor Julian Barwell, Julian.barwell@uhl-tr.nhs.uk, 07929 375 231 London Leda Bianchi, RECONNECT-Trial@kcl.ac.uk, 07999 981 657 Manchester Myfanwy Rawson, genetics.research@mft.nhs.uk, 0161 701 2788 Dr Andy Stanfield from the Patrick Wild Centre is also happy to be contacted if you have any questions about the study (andrew.stanfield@ed.ac.uk).

A study to collect detailed information about large groups of people with Fragile X. Dr Andy Stanfield and Dr Sonya Campbell are recruiting for a new online study, called the Patrick Wild Centre eHub. The aim of the eHub is to collect detailed information about large groups of people with Fragile X, the premutation and a comparison group using short, widely used surveys which will then be repeated every 2 years. The idea is to gradually build up a rich picture about how these conditions affect people and how this might change over time. More information about the study is available hereand you can sign up directly here.

Join a new public advisory panel and help shape research for parents who care for children with intellectual disabilities Are you a parent of a child aged 16 or below with a diagnosis of intellectual disability? If so, you can help shape research exploring general practice services for parent carers. You can find out more below. If you have any questions, or would like to join the panel, please email the Lead Researcher, Nicky Thomas, at the University of Warwick: nicky.thomas.1@warwick.ac.uk

Project Description: Emily Farran and Laura Cristescu, in collaboration with Jo Van Herwegen, Liz Pellicano, and Gaia Scerif are working on a project on understanding the priorities for research for individuals with Down Syndrome, Fragile X Syndrome and Williams Syndrome, and their communities. For research to best have an impact on improving lives, we need to better understand the needs of your community and what matters to you; you are a key part of this project. The findings will drive new directions and real-life impact on Fragile X Syndrome research. We would like to speak to individuals with Fragile X Syndrome (from 10 years old to adults) about what is important to them and what they would like to find out about Fragile X Syndrome, via an online videocall. If you are interested in taking part, we would love to hear from you. Please register your interest at the following link: https://surreyfahs.eu.qualtrics.com/jfe/form/SV_8DtfhT40nl978DY. If you have any questions, please do not hesitate to contact Laura at l.cristescu@surrey.ac.uk.

Researchers from the Patrick Wild Centre are currently looking for volunteers to take part in a research study that aims to better understand touch sensitivity in individuals who have fragile X syndrome. They hope that this study will help to develop an objective measure of tactile impairments in order to aid the development of appropriate treatments. Who can take part? They are currently looking for volunteers (3-45 years old) with full mutation fragile X syndrome as well as a comparison group of people without a neurodevelopmental condition. What does the research involve? The study involves having an EEG whilst holding a device that will deliver tactile stimulation to the fingertips. They will also measure your heart rate activity and blood pressure. You do not have to be able to do all of these to take part – any information they can gather is helpful. Where can I get more information? If you are at all interested in taking part, or even just want to find out more about what they are doing then please get in touch. You can contact the researchers directly by email or telephone if you have any questions: Damien Wright (damien.wright@ed.ac.uk; 0131 537 6431). Or you can sign up to a study slot here: TouchFX booking page Research team – Dr Andy Stanfield, Dr Leena Williams and Dr Damien Wright (CARID, Patrick Wild Centre, University of Edinburgh)