Measuring frataxin mRNA in blood and cerebrospinal fluid for Friedreich Ataxia
Official title: Measurement of Frataxin mRNA in NHP and Human Biofluids
Run by University of Florida · NCT06496451 · Data updated 2026-05-14
This study is no longer in our active list. It may have stopped recruiting or finished. The details below are as of 2026-05-14 and are kept for reference. Check ClinicalTrials.gov for its current status, or see similar studies below.
This study is testing if measuring frataxin mRNA in blood and spinal fluid can help track Friedreich Ataxia and see how well new treatments might work.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years to 65 Years |
| Sex | All |
| Enrollment | 10 (estimated) |
| Sponsor | University of Florida Academic / other |
| Locations | 1 site (Gainesville, Florida) |
| Trial ID | NCT06496451 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are adults over 18 years old with symptomatic Friedreich Ataxia related to documented biallelic GAA expansion in the FXN gene.
✕Probably not a fit
Patients who are unable or unwilling to provide informed consent or have uncontrolled medical illnesses that increase the risk of spinal tap may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to measure frataxin messenger RNA (mRNA) levels in blood and cerebrospinal fluid (CSF) from patients diagnosed with Friedreich Ataxia (FRDA). The study involves two visits where participants will provide informed consent, undergo blood sampling, and have a spinal tap to collect CSF. The researchers will utilize exosomes, which are microscopic sacs containing biological molecules, to detect frataxin mRNA levels. This method could provide a new way to monitor the disease and the effectiveness of potential treatments.
Why it matters
Potential benefit: If successful, this study could lead to a reliable method for measuring frataxin levels, aiding in the development and monitoring of treatments for Friedreich Ataxia.
How similar studies have gone: While this approach is innovative, there is limited existing research specifically measuring frataxin mRNA in biofluids for Friedreich Ataxia, making this study relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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 Criteria: * 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
Where it's running
-
University of Florida
Gainesville, Florida, United States Recruiting
Study contacts
- Principal investigator: S H Subramony, M.D — University of Florida
- Study coordinator: Whitney J Miller, BS
- Email: Whitney.Miller@neurology.ufl.edu
- Phone: (352) 733-1821
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Nomlabofusp by injection for Friedreich's Ataxia: efficacy and safety
This study tests whether subcutaneous nomlabofusp helps adults and children with Friedreich's Ataxia compared with placebo.
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LX2006 Gene Therapy for Friedreich Ataxia Cardiomyopathy (FA-CM)
A Phase 2 study tests LX2006 gene therapy in people with Friedreich ataxia who also have cardiomyopathy to see if it helps heart function and safety.
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This project will test whether omaveloxolone (SKYCLARYS) improves swallowing in French people aged 16 and older with genetically confirmed Friedreich's ataxia who have used the drug for at least six months.
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Testing DT-216P2 in patients with Friedreich's Ataxia
This study is testing a new drug called DT-216P2 in adults with Friedreich's Ataxia to see how safe it is and how well it works in their bodies.
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This study follows people with Friedreich ataxia who have cardiomyopathy to see how their heart disease changes over time and to identify who may later be eligible for a gene therapy study.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.