Status:
RECRUITING
Measurement of Frataxin mRNA in Biofluids
Lead Sponsor:
University of Florida
Collaborating Sponsors:
Friedreich's Ataxia Research Alliance
Conditions:
Friedreich Ataxia
Eligibility:
All Genders
18-65 years
Brief Summary
The purpose of this research study is to determine a way to measure frataxin messenger RNA (mRNA) in fluids such as blood and cerebrospinal fluid (CSF) from patients with Friedreich's ataxia (FRDA). T...
Detailed Description
Overview of the Study Participants will complete the study during 2 visits (visit 1 and 2). Visit 1 can be combined with a routine clinic visit for care or research but also may be done remotely via Z...
Eligibility Criteria
Inclusion
- Patients with symptomatic Friedreich ataxia (men and women) related to documented biallelic GAA expansion in the FXN gene
- Age over 18 years
- No contraindication to spinal tap including any coagulopathy or local infections
- Competent to provide informed consent
Exclusion
- Unable or unwilling to provide informed consent
- Any uncontrolled medical illness that may increase the risk of spinal tap such as ongoing infection as determined by the investigators
- FRDA related to an expansion in one allele and a conventional mutation on the other
- Positive pregnancy screening
Key Trial Info
Start Date :
June 14 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2025
Estimated Enrollment :
10 Patients enrolled
Trial Details
Trial ID
NCT06496451
Start Date
June 14 2024
End Date
December 1 2025
Last Update
October 15 2025
Active Locations (1)
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1
University of Florida
Gainesville, Florida, United States, 32608