How can we test if a potential FA treatment works in the CNS?

This project aims to develop biomarkers to detect early efficacy in clinical trials by measuring frataxin in small vesicles present in the fluid that surrounds the brain and the spinal cord. Biomarkers play an important role in helping determine optimal doses and provide early signs of potential efficacy in clinical trials testing gene therapy products. The investigators plan to measure the content of small vesicles found in the fluid surrounding the brain and spinal cord (cerebrospinal fluid or CSF), called exosomes. These vesicles are surrounded by membranes and contain protein, lipids, and different types of RNA that reflect the content of the cells in the brain that secrete them. The aim of the study is to develop methods to measure FXN mRNA in these vesicles found in CSF and blood of FA patients.