Are you, or someone you know, a carrier of the FMR1 premutation?
If so, you may be eligible for our study of language and social characteristics in fragile X syndrome and the FMR1 premutation!
Our research team at Northwestern University is studying language and social characteristics related to the FMR1 gene involved in fragile X syndrome (FXS). We have been fortunate enough to work with many wonderful families in the fragile X community, and have promising results on the horizon! A big THANK YOU to everyone we have had the opportunity to work with so far! Similar to the mission of the National Fragile X Foundation, we are seeking to accelerate the process of learning more about FXS by advancing research toward improving treatments for this specific population. In order to achieve this goal, we are looking to recruit additional families affected by FXS, and women who carry the FMR1 premutation and who grew up in Iowa.
Standardized academic testing (for example, the Iowa Test of Basic Skills (ITBS)) refers to state or district-administered tests, given to most students during elementary, middle, and high school. These tests are often administered multiple times throughout childhood and adolescence, and so provide valuable data on language and cognitive development over time. Studying these standardized test scores allows us to see how parents’ abilities may relate to variation in the FMR1 gene.
We are recruiting individuals who:
- Attended elementary, middle, or high school in Iowa
- Are carriers of the FMR1 premutation or the parent of a child with Fragile X syndrome.
Where is the study?
- We are located in Evanston, IL (just outside Chicago).
- We can travel to you or pay for your travel to us, whichever is most convenient for you and your family.
What will I receive?
- Each family member who participates will receive up to $50 compensation, depending on level of participation.
- Upon request, we can provide the results of genetic testing and completed research assessments.
What does the study involve?
- Participation can range from questionnaires only, to a full participation in an on-person battery of assessments that will last approximately 4 hours. The full battery includes tasks such as solving puzzles, telling stories, and talking about your friendships.
- A blood draw (optional).
- If your child with FXS participates in the study, you will be asked to complete an additional in-person or phone interview about your child’s developmental history that lasts approximately 3 hours.
- Please email us at firstname.lastname@example.org or call us at 1-877-275-7187 for more information!
- You can also visit us at http://familystudy.northwestern.edu for more information about our study.
Thank you in advance for your help and support of this important research!
The Neurodevelopmental Disabilities Lab
IRB STUDY #STU00051863
PI: Dr. Molly Losh
Dept: Communication Sciences and Disorders
Our Most Recent Opportunities
NFXF has partnered with an advisory committee of international fragile X professionals to create an international fragile X premutation research registry. Find out how to participate.
A Mount Sinai Genetic Counseling graduate student is conducting a research study to learn about possible benefits and side effects of CBD supplements when used to treat FXS symptoms. This information will be obtained by using an anonymous online parental and caregiver survey. About the Survey Who can participate? Parents and caregivers caring for somebody with FXS who uses, or has used, CBD supplements may be eligible to participate. The parent or caregiver responding to the survey must be at least 18 years old. The individual with ...
Researchers at Teachers College at Columbia University are conducting a survey to learn about the impact that the COVID-19 pandemic has had on multiple aspects of the lives of people with Fragile X Syndrome. We want to see how the Fragile X community specifically was impacted so that we can have a more focused plan of action for helping these families. The overall goal of this survey is to distribute our findings to medical professionals so that they can see what gaps have been created in their practices from the pandemic.
Participants of this study will explore what information is considered most important to recently diagnosed fragile X premutation carriers. Open to premutation carriers 18 and over who were diagnosed sometime since January 2018.
Kaylynn Shuleski, a master’s in genetic counseling candidate, is conducting a research study to explore the concerns and challenges caregivers may face when planning long-term supports and living arrangements for their adult children with Fragile X syndrome (FXS). This information will be valuable for current and future families when considering long-term supports, as well as for healthcare professionals, counselors, and policy makers. About the Study Who can participate? Parents and caregivers of adults with full mutation ...
Males between the ages of 18 and 30 years with a diagnosis of Fragile X syndrome (full mutation) may be eligible to participate.