The University of Kansas BRAIN Lab is conducting a research study to learn about behavioral and brain differences associated with premutations of the Fragile X gene, FMR1.
Participation
Who can participate?
Individuals ages 50–80 with the FMR1 gene premutation with or without FXTAS may be eligible to participate. Individuals with no known diagnosis may also be eligible to participate as a control subject.
What will happen in the study?
If the individual qualifies and decides to be in this research study, they will come to the University of Kansas – Lawrence and the University of Kansas Medical Center for 3–4 visits over the course of a few months subject to participants availability.
The following is a list of some of the tasks that will happen during the study:
- Cognitive
- Clinical
- Fine motor
- Eye movement
- Posture and gait
- Functional MRI testing
What are the good things that can happen from this research?
The goal of this study is to gain a better understanding of the cognitive and motor issues associated with FXTAS and identify markers associated with FXTAS onset.
What are the bad things that can happen from this research?
The potential risks related to testing are minimal, and they are no greater than those experienced through regular clinical evaluations. There may be other risks that we do not know about yet.
Will you/your child be paid to complete this survey?
Participants receive $10 per hour of testing completed, up to $140. Travel reimbursement is not currently available for participants.
Study Doctor
Dr. Matthew Mosconi, PhD
Associate Professor at University of Kansas – Lawrence
Director of Kansas Center for Autism Research and Training
Our Most Recent Opportunities
PIXI Study: Parent-Infant Fragile X Intervention
RTI International and the University of North Carolina at Chapel Hill are conducting an early intervention study to learn about the best ways to support early development in infants identified with the full mutation of Fragile X. Babies 0–9 months old with the full mutation, and their caregivers, may be eligible to participate.
Study: Our Fragile X World Registry
Our Fragile X World collects data from families using online surveys and in-person studies. Topics covered include sensory or behavioral challenges, health care experiences, and the impact of Fragile X on families.
Study: Cognition, Balance, and Walking Patterns in Males With a Premutation
Doctors at Rush University are researching cognition, balance, and walking patterns in people who carry a premutation in the Fragile X (FMR1) gene.
Fragile X Premutation Carrier Study at USC
The University of South Carolina is conducting a research study focusing on the range of language, social, and cognitive features that may be associated with variations on the FMR1 gene. Women age 35-75 who are carriers of the Fragile X premutation may be eligible to participate.
Study to Learn About the Cognitive Profile of Children with a Full Mutation of Fragile X
An Alliant International University clinical psychology doctoral candidate is conducting a research study to learn about the cognitive profile of children with a full mutation of Fragile X. Males and transgender females between the age of 8 and 12 may be eligible to participate.
Parent Survey: Children’s Behavioral Strengths and Challenges
The MIND Group at the University of Minnesota is conducting a survey for parents of children with Fragile X syndrome to learn about how genetic and neurodevelopmental differences impact behavioral strengths and challenges. Parents of 3–17 year old children living with Fragile X are eligible to participate.
