BIOMARKERS IN FRIEDREICH ATAXIA: INDICATORS OF DISEASE PROGRESSION AND OUTCOME MEASURES TO EVALUATE RESPONSIVENESS TO TREATMENT IN INTERVENTIONAL TRIALS (DSB.AD007.267)
Area tematica
Area progettuale
Biomedicina Traslazionale (DSB.AD007)Struttura responsabile del progetto di ricerca
Istituto di tecnologie biomediche (ITB)
Responsabile di progetto
MAURO MARZORATI
Telefono: 0226422702
E-mail: 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.
Data inizio attività
01/06/2021
Parole chiave
RF-2019-12368918
Ultimo aggiornamento: 28/03/2024