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Measurement of Frataxin mRNA in Biofluids

NCT06496451 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 10

Last updated 2026-01-16

No results posted yet for this study

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). The gene mutation in FRDA leads to low levels of the mRNA and then low levels of the protein frataxin that leads to the disease. Treatments being developed for FRDA have the ability increase these levels including in brain where it is needed. Currently, there is no accepted way to measure frataxin protein or the messenger RNA (from which the protein is made) in the spinal fluid that surrounds the brain. In our study, the investigators aim to measure frataxin mRNA in both the blood and CSF. The investigators will use our ability to isolate structures called exosomes from these fluids. Exosomes are tiny, microscopic sacs that are known to contain many important biological molecules, and the investigators are able to detect frataxin mRNA in CSF from patients with other illnesses and from non-diseased participants. The investigators believe that parallel studies of exosomes in blood and CSF from patients with FRDA can tell us as to whether the frataxin mRNA in the CSF or blood of FRDA patients can serve as a measure of frataxin production in the brain. With one participation visit the investigators will be able to study the relationship of frataxin mRNA levels in the participant\'s CSF and blood with measures of disease severity. If successful, this will provide an important tool to monitor treatments for FRDA that aim to increase frataxin production.

Conditions

  • Friedreich Ataxia

Interventions

OTHER

Spinal tap for CSF collection

A spinal tap will be done on you by your choice of bedside or in the "interventional radiology (IR) suite" in the Shands (Neuromedicine) hospital. This procedure will be done by trained technicians under medical supervision or the principal investigator. Local anesthesia will be used to numb the site of injection on your back. We plan to collect about 4 tablespoons of spinal fluid.

OTHER

Venipuncture for blood sample

a sample of blood (approximately 4-5 tablespoonfuls) will be collected

Sponsors & Collaborators

  • Friedreich's Ataxia Research Alliance

    collaborator OTHER

  • University of Florida

    lead OTHER

Principal Investigators

  • S H Subramony, M.D · University of Florida

Eligibility

Min Age
18 Years
Max Age
65 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-08-08
Primary Completion
2026-01-14
Completion
2026-01-14

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06496451 on ClinicalTrials.gov