Research Study on Mothers with the Full Mutation
Females aged 35–80 years with the Fragile X full mutation who are mothers.
Needed for a Research Study!
Why are we doing this research?
The University of South Carolina is conducting a research study to learn about the experiences of mothers with the Fragile X/FMR1 full mutation. Most prior research on mothers of children with fragile X syndrome has focused on those with the premutation (55–200 CGG repeats). This study is the first to specifically represent the experiences of mothers with the full mutation (>200 CGG repeats).
Who can participate?
Females aged 35–80 years with the FMR1 full mutation (CGG repeat length >200) who are mothers may be eligible to participate.
What will happen in the study?
Participants will take part in one assessment within the next year. Participants will have the option to participate from their 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).
- 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.
Participants will be asked to provide a buccal swab and a dried blood spot (finger-prick test) so we can measure variation in the FMR1 gene.
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 mothers with the full mutation 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.
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 dried blood spot 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/my child be paid to be in this research study?
Participants are eligible to receive $100–$200 for their participation. Travel reimbursement may be available to eligible families.
Contact
Phone 803-576-7359
Email scfamilystudy@gmail.com