FRDA is a progressive neurodegenerative disease inherited as recessive trait. It manifests itself usually in adolescence and affects various systems including the central and peripheral nervous system (balance, coordination, speech and sensitivity), the heart with hypertrophic cardiomyopathy, the bones with skeletal deformities (scoliosis, claw foot) and in some cases diabetes mellitus. The disease causes severe and progressive disability, significantly reducing the life expectancy of patients.
Conditions
Interventions
Trade Name: IMUKIN - 6 FLACONI 0.5 ML 100 MCG
Product Name: Imukin
Pharmaceutical Form: Solution for injection
Sponsors
ASSOCIAZIONE "LA NOSTRA FAMIGLIA" - SEZIONE SCIENTIFICA I.R.C.C.S. "E.MEDEA"
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Defined molecular diagnosis of Friedreich's ataxia Aged between 10 and 40 years Having completed the clinical-radiological study protocol within 12 months before the start of the study. Willingness to participate in the study. For women of childbearing age, availability to the use of safe contraceptive method for the entire duration of the study and for the next 60 days after the follow-up. Are the trial subjects under 18? yes Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 5 F.1.3 Elderly (>=65 years) yes F.1.3.1 Number of subjects for this age range 0
Exclusion criteria
Exclusion criteria: Presence of contraindications to perform the magnetic resonance. Clinical conditions unstable to the kidney, liver, heart, bone marrow suppression, blood dyscrasias or other medical condition unstable. Known allergy to latex. Known hypersensitivity to IFN gamma. Previous exposure to eritropoietina recombinant in the last 3 years. Simultaneus use of other drugs used to modify the disease in question (eg idebenone, deferiprone, Vit B ...) Women of childbearing age who are planning a pregnancy, or existing pregnancy or lactation in place.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: To test the safety of treatment with ¿IFN in FRDA patients, administered for 6 months at the initial dose of 100 ucg three times per week (first 2 weeks of treatment) and at the final dose of 200 ucg three times per week (for the remaining 22 weeks of treatment).;Primary end point(s): ;Secondary Objective: Test the efficacy of the treatment with ¿IFN in patients with FRDA by means of fMRI changes detected by a ¿finger tapping¿ motor task. Test the effect of the treatment by means of a number of secondary MRI indexes, laboratory and clinical end-points: DTI changes, brain iron content as measured by SWI, ventricular wall thickness as measured by 'Echocardiogram (ECHOCG), visual contrast tests, functional performance as measured by: Friedreich Ataxia Rating Scale (FARS), Scale for the Assessment and Rating of Ataxia (SARA), 9-Hole Peg test (9-HPT), 6-minute walk test (if applicable), levels of frataxin in cell lysates prepared from peripheral blood mononuclear cells (PBMC), changes in the quality of life and the impact of disability measures. | — |
Countries
Italy
Contacts
Public ContactNucleo operativo ricerca ¿IFN
La Nostra Famiglia - IRCCS E.Medea
Outcome results
None listed