Premutation Carrier Aging Study

This study is focused on understanding how healthy aging is affected by genetic factors related to the FMR1 gene. We will follow cohorts of women who do and do not carry a genetic mutation called the “fragile X premutation” longitudinally, across midlife and early old age. This will help us understand the range and progression of symptoms experienced by women who carry of the fragile X premutation as they age. The results of this study will help us understand prevention and treatments to support healthy aging in women who carry the fragile X premutation and their families.

This study is funded by the National Institute on Aging.

Who can participate?

  • – Women who carry the fragile X premutation, aged 45-78 years, who have a child with fragile X syndrome
  • – Women who do not have a family history of fragile X, aged 45-78 years, and who have biological children

What does the study involve?

This is a longitudinal study, involving one assessment per year for three years.

Each year you will be asked to fill out some questionnaires (~ 1 hour) and participate in an assessment (~4 hours).

During your appointment, we will ask you to complete some interviews and activities. These may include:

  • – Interviews about your own thoughts and experiences
  • – Measures of thinking skills and attention
  • – Viewing some pictures on a screen while a camera records your eye movements
  • – Tests of motor function
  • – Measurement of your heart rate using a small, lightweight, non-invasive monitor

Once during the study you will be asked to provide a genetic sample so that we can study how variation in the FMR1 gene (the gene that causes fragile X-associated conditions) relates to age-related processes.

Is travel required?

Travel is not required. You will have the choice of traveling to our research lab at the University of South Carolina, or our team can travel to you. If you choose to travel to us, we will cover all travel costs.

What is the compensation?

You will receive $100 for completing study activities each year.

Can you share the results?

If requested, we can share genetic testing results and provide a brief report summarizing performance on standardized assessments.

How can I get more information?

Interested in learning more? Fill out our interest form and our team will be in touch shortly.

You may also reach us at or (803) 576-7359.