BIOMARKERS IN FRIEDREICH ATAXIA: INDICATORS OF DISEASE PROGRESSION AND OUTCOME MEASURES TO EVALUATE RESPONSIVENESS TO TREATMENT IN INTERVENTIONAL TRIALS (DSB.AD007.267)

Thematic area

Biomedical sciences

Project area

Structure responsible for the research project

Institute of biomedical technologies (ITB)

Project manager

MAURO MARZORATI
Phone number: 0226422702
Email: mauro.marzorati@itb.cnr.it

Abstract

Friedreich ataxia (FA) is a rare inherited multisystem neuromuscular disease with no treatment. The restless progression of
symptoms results in severe motor impairement and reduction of lifespan. The identification of FA biomarkers could offer
rapid data supporting whether a potential therapy is effective. We propose to test and validate innovative techniques
allowing quantitative outcome measures and peripheral disease "signature" for precise monitoring of clinical manifestations
and evolution.
We propose a longitudinal study focused on three major research areas:
1) neurological assessments, functional scales, magnetoencephalography, and balance tests;
2) blood expression profile of genes involved in the antioxidant response and ferroptosis;
3) non-invasive test of skeletal muscle oxidative metabolism and respiratory function.
A better knowledge of the pathogenesis and course of FA represents the basis to support clinical trials and tailor
personalized treatments.

Start date of activity

01/06/2021

Keywords

RF-2019-12368918

Last update: 23/06/2025