Opportunities to Take Part in Fragile X Research Studies

 

The Fragile X Society aims to support research, having supported over 60 projects and counting! 

 

By finding out more about Fragile X Syndrome, we hope that support for people with Fragile X and their families can be improved. 

 

Below is information about current studies that the Fragile X Society have agreed to support. If you would like to help to support Fragile X Research, please the information below to decide whether you would like to take part in these studies. 

NEW! We have a brand new Fragile X Society UK Research Facebook page. If you are a family member, researcher or just want to engage and learn more about research into Fragile X syndrome, please click the link above and join the discussion! Those interested in taking part in any of our current studies can ask the researchers questions about them and you will also find news about recent research from around the world.

If you are a researcher and have a new project, please see our Guidelines for supporting research and instructions for contacting us

If you would like to know more about the findings of research relevant to Fragile X, then visit our Research News Page.

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Current Research Projects

FX-LEARN trial

Dr. Elizabeth Berry-Kravis and Katie Friedmann, Rush University. 

CLOSING DATE FOR PARTICIPANTS IS FEBRUARY 2020

There are two purposes of this study: 

  • To find out if the drug AFQ056, made by the pharmaceutical company Novartis, is safe and has beneficial effects on language learning in children who have fragile X syndrome (FXS) 

  • Find out if a structured language intervention can help children with FXS communicate better.

  • AFQ056 is an investigational drug that is not approved for use for the treatment of people with FXS by the U.S. Food and Drug Administration (FDA). AFQ056 is an oral (given by mouth) study drug which may be able to reduce the symptoms of fragile X syndrome by compensating for some of the function of the missing FMRP.

    What does this study involve?

    Participants will be in this study for a total of 21 months. If your child participates, then he/she will 

  • Have a total of 15 in-person study visits 

  • Be given medication or a placebo (dummy medication) 

  • Have blood and laboratory sampling 

  • Have heart activity monitored 

  • Have a physical, neurological and eye exam 

  • Participate in activities involving: 

  • Tests of cognitive abilities 

  • Viewing pictures of people on a computer 

  • Language tasks like answering questions and telling a story from a picture book 

  • Interactive play sessions with study staff. 

  • Brain wave test to measure sound processing

  • You will also be asked to participate in several activities including: 

  • Frequent visits over phone/video 

  • Language Intervention sessions 

  • Complete questionnaires regarding your child’s language, behavior and overall function development and also their sleep habits.

  • For more information or to enquire about pariticipation, please contact the national Co-ordinator Katie Friedmann: Katherine_J_Friedmann@rush.edu

    Cognitive Emotional Dysregulation in FMR1 Premutation Carrier Mothers of Children with Fragile X Syndrome and Down Syndrome

    Research Team: Dr Nermin Khalil, under the supervision of Professor Jeremy Turk, South London and Maudsley NHS Trust in London.

    We are exploring how mothers of children with Fragile X Syndrome and Down Syndrome manage stressful life situations. We shall also be studying the possible relationship between using different psychological strategies and the development of depressive, anxiety and obsessive-compulsive symptoms. We shall also look at strategies that can protect against anxiety and depression.

    The study involves completing a number of questionnaires that ask about impulsiveness, depressive symptoms, anxiety, personality and autism spectrum traits. You will also be invited to complete one of the interviews over the phone with a trained clinician.

    If you are a premutation carrier mother of a child with fragile X syndrome and would like to participate or find out more, please contact Nermin: Nermin.Khalil2@slam.nhs.uk

    Stay Calm

    Research Team: Justin Chung and Dr Kate Woodcock (School of Psychology, University of Birmingham)

    We are looking for parents or caregivers of individuals between the age of 6 years old to 25 years old, who have emotional outburstsat least once a month.

    Participation involves submitting anonymous responses to a newly designed online questionnaire, which asks about emotional outburst characteristics, such as frequency, duration, and behaviours, of the individual you care for. The questionnaire will take no more than 1 hour to complete (most likely around 30 minutes).

    The study aims to use your responses to ensure that the questionnaire is accurately measuring emotional outburst characteristics. This will be a valuable tool in future to help us and others to better understand emotional outbursts and how to treat them.

    If you are interested in taking part, please access the questionnaire with the link below:

    https://bhampsychology.eu.qualtrics.com/jfe/form/SV_25dCk3mw4PS3Q8t

    Or by visiting our website: https://www.katewoodcock.com/staycalm/

    If you have further questions, please contact Justin Chung on 0121 414 7221 or at kwrg@contacts.bham.ac.uk. 

    Cognitive strengths and weaknesses in autism and related disorders

    Research Team: Dr Katherine Ellis and Dr Sarah White (University College London and the University of Birmingham)

    Some individuals with fragile X syndrome also have a diagnosis of autism. This new study is looking at how children with fragile X syndrome process information and if they process it in a similar way to children with autism who do not have a known genetic cause for their autism diagnosis. Children and young people aged 4 years and above are invited to participate. This will involve watching some short videos and answering some questions afterwards. Your child’s eye movements will be monitored using eye-tracking technology whilst they watch the videos. More information to follow.

    Investigating information processing in adults with and without the fragile X premutation

    Research Team: Ishita Chowdhury, Dr Sarah White (University College London) and Dr Jo Moss (University of Birmingham)

    Ishita would like to invite mothers, under the age of 50, with the fragile X premutation to take part in a face-to-face study. The activities that you would be invited to do, include completing questionnaires, watching short videos, computer tasks and some paper and pencil tasks.

     

    The study sessions will take place at the Institute of Cognitive Neuroscience at University College London and will take about 2 hours to complete. Reasonable travel costs will be reimbursed as will your time and effort.  If travelling to London is difficult for you, please contact Ishita as she may be able to arrange to visit you in your home.

     

    The main aims of the study are to find out how people’s brains process information and whether this relates to certain traits associated with the autism spectrum.

     

    If you are a mother under the age of 50 with the fragile X premutation and would like to participate in this study or you would like further information, please email Ishita or telephone her on 020 7679 1128.

    Flexible scheduling to prevent the development of disabling resistance to change.

    Research Team: Dr Kate Woodcock and Siobhan Blackwell

    This new study by Dr Kate Woodcock and her research team at the School of Psychology, University of Birmingham aims to develop a new strategy that they hope will prevent the development of some of the difficulties that children can experience with changes to their routines or expectations.

    They want to help parents and teachers to structure children’s routines and activities in such a way as children will have the best possible opportunity to develop the cognitive skills that allow individuals to deal with change successfully. This is referred to as flexible scheduling.

    The research activities include contributing to the design of the flexible scheduling by taking part in interviews with researchers and focus groups with other participants and researchers.  After the research team have developed a version of the flexible scheduling, they want to refine it through testing so they would ask you to use the programme over a short period so that they can see what is working well and what needs to be changed.

    This is a very early stage project.  The objectives at this stage are to develop the flexible scheduling programme and test it to see if it is feasible for families and teachers to use.  Kate and her team want to work with a number of families and teachers to draw on a range of experiences so that they can best design the flexible scheduling to achieve the important objectives outlined above, whilst also being acceptable for the people who are going to use it.

     

    If you have a child with Fragile X Syndrome between the ages of 5 and 12 years and think you might be interested in taking part in this study, please get in touch with either Dr Kate Woodcock on 0121 414 6036 or at k.a.woodcock@bham.ac.uk or Siobhan Blackwell on 0121 414 3335 or at S.Blackwell@bham.ac.uk

    Or in writing at School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT.

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