NCT06496451Completed
Measurement of Frataxin mRNA in Biofluids
Measurement of Frataxin mRNA in NHP and Human Biofluids in Patients With Friedreich's Ataxia
Source: ClinicalTrials.gov · Last updated 16 Jan 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Completed
- Study type
- Observational
- Enrollment
- 10 (actual)
- First submitted
- 3 Jul 2024
- Start date
- 8 Aug 2024
- Primary completion date
- 14 Jan 2026
- Lead sponsor
- University of Florida
- Diseases
- Friedreich ataxia
- NCT number
- NCT06496451
What you commit to
- Study type: Observational
- Participants enrolled: 10
- From 8 Aug 2024 to the primary completion date, 14 Jan 2026
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Any uncontrolled medical illness that may increase the risk of spinal tap such as ongoing infection as determined by the investigators
Other
- Unable or unwilling to provide informed consent
- FRDA related to an expansion in one allele and a conventional mutation on the other
- Positive pregnancy screening
Who the study is looking for
- 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
Age in the registry: 18 years to 65 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| University of Florida Coordinator of this site? Confirm its status | Gainesville | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.