Open Trail of γIFN for Friedreich Ataxia

• Status: Completed
• Trial end date: 2017-12-31
• Target enrollment: 0
• Participant gender: All

Summary

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.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: IRCCS Eugenio Medea
• Treatments: Interferon-gamma; Interferons

Criteria

Inclusion criteria:

• Molecularly defined FRDA,

• willingness to participate in the study and signing of the informed consent form.

• In order to control for the ongoing deterioration associated with the disease, the investigator will recruit only those patients who had been already studied with the MRI protocol and the functional scales indicated below approxymately 12 months before the beginning of the present study.

Exclusion Criteria:

• presence of any contraindication for MRI study,

• presence of clinically significant heart, liver or kidney disease or other medically unstable conditions.

• Known sensitivity to γIFN.

• Previous exposure to recombinant hematopoietin.

• Ongoing use of desferiprone or other specific FRDA treatments.

• Pregnancy or lactation