Background

Fragile X syndrome is the most common monogenic (meaning linked to a single gene) cause of intellectual and developmental disability. The DNA changes in this single gene, the gene FMR1, lead to the creation of an incomplete or missing protein (called FMRP) that is essential for brain development. The brain changes due to this missing protein themselves lead to the intellectual and learning difficulties experienced by people with Fragile X Syndrome.

Why did we do this study?

Many trials are currently running to verify the usefulness of new medications for Fragile X. For the results of these clinical trials to be meaningful, the trials have to include a large number of participants. However, taking part in these trials can be difficult for people with Fragile X and their families. With this study, we wanted to understand what made participation in clinical trials more difficult, and what could make participation easier, with the goal of giving participants a better experience of clinical trial participation.

What did we do?

We invited people with Fragile X Syndrome, their parents, family members, and carers, to complete an online questionnaire regarding their experience of participation in clinical trials. A total of 328 people responded to the questionnaire. 12 respondents also joined us in follow-up focus groups to discuss their experiences.

What did we find?

We found that over two-thirds of the respondents were worried about potential side effects to the new medication on trial. Many respondents also pointed out difficulties with specific clinical procedures (such as blood test), or with the travel required to take part in the trials. Importantly, participants also pointed out many ways to reduce these difficulties and make participation easier: for example, access to clear information about the research team and facilities, accessible explanation about specific clinical procedures, or combination of local and site visits to reduce travel.

Outputs

The findings have been published in a peer-reviewed journal, and are available at:

• Eley, S., McKechanie, A., Campbell, S., & Stanfield, A. (2020). Facilitating individuals and families affected by fragile X syndrome to participate in medication trials. Journal of Intellectual Disability Research, [12779]. https://doi.org/10.1111/jir.12779

Who conducted and funded the project?

This study was run by Sarah Eley with funding from an RS Macdonald Charitable Trust Seedcorn award.