Measuring frataxin mRNA in blood and cerebrospinal fluid for Friedreich Ataxia
Measurement of Frataxin mRNA in NHP and Human Biofluids
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 |
|---|---|
| Enrollment | 10 (estimated) |
| Ages | 18 Years to 65 Years |
| Sex | All |
| Sponsor | University of Florida Academic / other |
| Locations | 1 site (Gainesville, Florida) |
| Trial ID | NCT06496451 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: While this approach is innovative, there is limited existing research specifically measuring frataxin mRNA in biofluids for Friedreich Ataxia, making this study relatively novel.
Eligibility criteria
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 this trial is running
Gainesville, Florida
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.