Progetto di ricerca

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

Area tematica

Scienze biomediche

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