About the Study
Who can participate?
Women with the FMR1 premutation who are between the ages of 45-78 years and have a biological child with Fragile X syndrome, may be eligible to participate.
What will happen in the study?
Participants will take part in one assessment per year for the next three years. Participants will have the option to participate from a quiet room in your home (our research team will travel to you), or at our research lab at the University of South Carolina (all travel costs will be covered by the project).
Each year, the research assessment will take about 4 hours, plus additional time to complete questionnaires prior to your appointment (about 45 minutes).
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
- Tests of motor function
- We will collect information on your heart rate, which will provide information about physiological health. Heart rate will be measured using a lightweight, non-invasive monitor.
Once during the study you will also be asked to provide a blood sample so that we can study how variation on the FMR1 gene relates to age-related processes.
What are the good things that can happen from this research?
You will not benefit directly for taking part in this study. However, the information collected is expected to increase our knowledge of the issues experienced by carriers of the fragile X premutation and their families. This research may support the development of family-centered treatments or supports.
If requested, we will provide a brief report summarizing your performance on the standardized assessments and genetic testing results.
What are the bad things that can happen from this research?
There is minimal risk to participating in this study. You might get bored or frustrated with the testing. If so, you can take a break or finish testing another time.
The blood draw is a brief procedure that poses minimal risk but may result in mild pain, bruising, or swelling. More rarely, you may faint, or the area may become infected. There is the risk of privacy loss. To protect against this risk, all data will use an identification number and no names or other identifying information will be connected to the samples.
There is the risk of a breach of confidentiality, despite the steps that will be taken to protect your identity. The researchers will store study records and other information about you in a secure location and will grant access only to those with a need to know. However, just like with other personal information kept by your health care providers, your banks, and others, even these safeguards cannot guarantee absolute protection of the data. If private information gets into the wrong hands, it can cause harm.
There may be other risks that we do not know about yet.
Will I or my child be paid to complete this study?
Participants receive $100 each visit. Travel reimbursement may be provided to eligible participants.