The investigator proposes an open label pilot study to investigate the safety and efficacy of
gamma interferon (γIFN) in patients with Friedreich's Ataxia (FRDA). yIFN, an approved drug
for treatment of granulomatous disease, has been shown to promote Frataxin expression in FRDA
models in vitro and in vivo as well as in pilot human studies.
Safety will monitored by clinical surveillance and biohumoral periodic assessment. Efficacy
will be assessed by a combination of advanced neuroimaging techniques and established
clinical indicators. The investigators intend to recruit over a 6 months period 12 subject
with molecularly established FRDA. The protocol builds on a recently concluded observational
study which established the pattern of clinical and neuroimaging abnormalities characterizing
a cohort of patients with FA. The data already acquired through such study will constitute
the T-6/-12 point, and together with T0 assessment, carried out at study entrance, will
provide for each patient the exact appreciation of disease actual progression over a year
time. Recruited patients will receive for 6 months yIFN at a final dose of 200 ug/three times
a week. Patients will be evaluated clinically after 3 and 6 months (T3 and T6) of treatment
and 6 months after treatment end (T+6) and by neuroimaging at T6 and T+6. The neuroimaging
protocol, based on 3 Tesla scanner, consists in functional MRI, tractography. The clinical
protocol consists on specific ataxia scales administration. Regular monitoring with for
eventual adverse events will be provided. Frataxin levels in the peripheral blood mononuclear
cells will also be evaluated at T0, T3, T6, T+6. Furthermore, the thickness of the cardiac
ventricle and retinal nerve fibre layer (RNFL) thickness with optical coherence tomography
(OCT) will be performed at T0, T6, T + 6.