Clinical Outcome Assessment and Treatment Monitoring Markers for Clinical Trial Readiness in FXTAS
The purpose of this research is to prepare for future FXTAS (fragile X-associated tremor/ataxia syndrome) clinical trials by establishing a set of accurate and clinically important measures to sensitively track responses to treatment.
Disclaimer: This research opportunity is not affiliated with NAF. We are sharing this information as a resource for the Ataxia community. Sharing this information does not imply endorsement by NAF.
About the Study
Eligible Ataxia Types
Fragile X-Associated Tremor/Ataxia Syndrome
Type of Study
Research Study
Age Range
Adult 18+
Study Start Date
07/15/2025
Estimated Completion Date
06/30/2030
IRB Approval #
2351482
Location(s)
UC Davis MIND Institute
2825 50th St
Sacramento, CA
Contact Information
Glenda Espinal
gmespinal@health.ucdavis.edu
916-598-3351
Teresa Scerbak
tescerba@med.umich.edu
734-936-9115
Kayli Hilliard
Kayli_n_hilliard@rush.edu
312-942-4226
What does participation in the study entail?
Participation in this research will include 3 or 4 visits to UC Davis, University of Michigan, or Rush University in Chicago, over a period of approximately 2 years. Each visit will take place over 2 days. Being in this study will involve the following types of assessments or procedures: brain MRI; cognitive testing; assessment of neurological function (including movement and reflexes) by a trained physician and by sensors that detect movement; several questionnaires; a urine sample; and a blood draw for the fragile X genetic test. The urine and blood samples will be stored for future research.
What are the potential benefits/risks for participants?
Benefits include a detailed medical, neurological, and psychological evaluation, the results of which can be shared if desired. Risks include nervousness during MRI, bruise or pain from blood draw, nervousness or fatigue during testing. MRI is not safe with certain metals in the body, and participants are carefully screened for MRI safety.
Is there financial compensation?
$250 per visit
Is there travel reimbursement?
Airfare, lodging, ground transportation
Who is eligible?
Men or women with the fragile X premutation and FXTAS diagnosis.
Additional Information or Resources
See full study flyer HERE
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