Measurement of Frataxin mRNA in Biofluids

NCT06496451 | Completed DMC

• 1 other identifier: 202301923
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Friedreich's Ataxia; Frataxin

Outcome Measures

Primary Outcomes (1)

• Measurement of Frataxin mRNA in human biofluids

  The study plans to measure frataxin mRNA in exosomes from blood and spinal fluid as a biomarker in Friedreich ataxia

  One year from final collection date

Study Arms (1)

Friedreich ataxia

Adult patients with genetically proven Friedreich ataxia

Other: Spinal tap for CSF collection; Other: Venipuncture for blood sample

Interventions

Spinal tap for CSF collection OTHER

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.

Friedreich ataxia

Venipuncture for blood sample OTHER

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

Friedreich ataxia

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

People living with Friedreich ataxia (FRDA)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Florida: lead
• Friedreich's Ataxia Research Alliance: collaborator

Study Sites (1)

University of Florida

Gainesville, Florida, 32608, United States

Location

MeSH Terms

Conditions

Friedreich Ataxia

Interventions

Spinal Puncture; Phlebotomy; Blood Specimen Collection

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Biopsy; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Diagnostic Techniques, Neurological; Punctures; Therapeutics; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• S H Subramony, M.D

  University of Florida

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 3, 2024
• First Posted: July 11, 2024
• Study Start: August 8, 2024
• Primary Completion: January 14, 2026
• Study Completion: January 14, 2026
• Last Updated: January 16, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)