Authors: Erin Turbitt, Celeste D’Amanda, Sarah Hyman, Jayne Dixon Weber, John F. P. Bridges, Holly L. Peay and Barbara B. Biesecker


Dr. Turbitt and her collaborators are interested in how parents make decisions on behalf of their child. Parents of children with Fragile X syndrome face many challenging health-related decisions across their child’s lifespan. Learning more about how these decisions are made could lead to the development of tools and resources to better support parents making difficult decisions. One such challenging decision parents face is whether to enroll their child in a clinical drug trial. The aim of this study was to determine parents’ main priorities for clinical trials, at a time when the clinical trial opportunities are on the rise.

In this study, 354 parents of children with Fragile X syndrome responded to an online survey in 2018. Parents read a series of hypothetical scenarios where they were asked to identify what they thought were the best and worst things about clinical drug trials. The researchers found that overall, parents are altruistic, and prioritize community and society benefit above the benefits for their own families. Parents are most motivated to enroll their child in a clinical drug trial if it is testing a drug that aims to help a wide range of Fragile X syndrome symptoms by targeting the underlying mechanisms. Parents are also motivated to enroll their child in a clinical drug trial if it is testing a drug that has a good chance of effectiveness for most people with Fragile X syndrome.

Parents considered three key things that would discourage them to enroll their child in a clinical drug trial:

  1. the requirement for blood draws,
  2. loss of access to the drug after the trial finishes, and
  3. the risk of side-effects such as nausea.

Dr. Turbitt and her team found that parents whose child had previously enrolled in a trial were more discouraged by the risk of side effects compared to parents without prior trial experience.

Why This Matters

The findings of this study can contribute priorities defined by parents in the drug development process. For example, those developing clinical trials could consider ways to overcome the key barriers such as maintaining access to the drug after the trial finished and alternatives to blood for collecting biological samples such as saliva. There are researchers working on ways to distract children during the blood draw process such as virtual reality (where children wear headsets that immerse them in virtual environments), which may reduce pain and anxiety in children. These novel techniques could be considered for use in Fragile X clinical drug trials.

Next Steps

This study has helped to understand how parents approach these types of challenging decisions. The researchers are using the findings to develop tools and resources that parents can use when faced with these types of decisions. Dr Turbitt is also applying what she learned about decision making in this study to a new area of research. This new work is investigating parents’ views and experiences about novel, more detailed types of genetic tests being developed that could provide parents with more information about their child’s future development.

Acknowledgements and Funding

The researchers would like to thank the parents and caregivers who provided responses to the survey and those who helped with survey development. The authors are grateful to Dr. Philip Shaw at the National Human Genome Research Institute for recruitment support. The authors would like to thank the National Fragile X Foundation and FRAXA for their help advertising our study.

Turbitt, E., D’Amanda, C., Hyman, S. et al. Parent clinical trial priorities for fragile X syndrome: a best–worst scaling. Eur J Hum Genet 29, 1245–1251 (2021).↗

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