Measurement of Frataxin mRNA in NHP and Human Biofluids in Patients With Friedreich's Ataxia

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 65
Healthy Volunteers: f
View:

• 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

Locations
United States
Florida
University of Florida
RECRUITING
Gainesville
Contact Information
Primary
Deborah Morrison
dgmorrison@ufl.edu
(352) 273-5189
Backup
Julie Segura, BS
Julie.segura@neurology.ufl.edu
(352) 733-2412
Time Frame
Start Date: 2024-06-14
Estimated Completion Date: 2025-12
Participants
Target number of participants: 10
Treatments
Friedreich ataxia
Adult patients with genetically proven Friedreich ataxia
Sponsors
Leads: University of Florida
Collaborators: Friedreich's Ataxia Research Alliance

This content was sourced from clinicaltrials.gov