Measurement of Frataxin mRNA in Biofluids

Plain-language summary

This study aims to measure frataxin mRNA levels in cerebrospinal fluid and blood samples from patients with Friedreich ataxia. It included symptomatic patients over 18 with a confirmed biallelic GAA expansion in the FXN gene. It was a study with no assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

University of Florida

Intervention

Spinal tap for CSF collection, Venipuncture for blood sample

Start date

8/8/2024

Estimated completion

1/14/2026

Countries

United States

Related genes

Locations

• Gainesville, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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