Frataxin mRNA in Biofluids

Launched by UNIVERSITY OF FLORIDA · Jul 3, 2024

Keywords

ClinConnect Summary

This clinical trial is studying a new way to measure a specific type of genetic material called frataxin messenger RNA (mRNA) in blood and cerebrospinal fluid (CSF) from patients with Friedreich Ataxia (FRDA). FRDA is caused by a mutation in a gene that leads to low levels of frataxin, a protein important for nerve function. By measuring frataxin mRNA, researchers hope to find a reliable method to monitor how well potential treatments are working to increase frataxin levels, especially in the brain.

To be eligible for this trial, participants must be over 18 years old and have a confirmed diagnosis of symptomatic Friedreich Ataxia due to a specific genetic change. The study involves a single visit where participants will undergo a procedure called a spinal tap to collect CSF, as well as providing a blood sample. This research could provide valuable insights into how to track the effectiveness of new treatments for FRDA, making it an important step for patients and families affected by this condition.

Gender

ALL

Eligibility 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