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
Parent Survey: Literacy Skills in Children with Fragile X Syndrome
The Research in Neurodevelopmental Disabilities Lab at the Waisman Center at the University of Wisconsin-Madison is looking for parents of male or female children 6 to 17 years old with Fragile X syndrome for an online survey.
Study: Join the FORWARD Registry & Database
The FORWARD Registry is open to individuals with any type of Fragile X disorder, and the FORWARD Database is open to individuals with a full mutation (including mocaicism).
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.
