Interferon Gamma-1b in Friedreich Ataxia (FRDA)

Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia (FRDA)

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy. Recently, a study reported that interferon gamma (IFN-g) could raise frataxin protein levels in both cell lines derived from patients with Friedreich ataxia and in a mouse model with Friedreich ataxia. The present study will test whether IFN-g is safe, tolerated and potentially efficacious in a heterogeneous cohort of children with FRDA.

Study Objectives:

Primary:

• To assess the effect of Interferon Gamma-1b (IFN-g) on increasing frataxin expression and protein in children with FRDA.

Secondary:

• To assess the effect of IFN-g on neurological outcomes (FARS, performance measures, and hearing) in subjects with FRDA.
• To assess the effectiveness of IFN-g on quality of life in subjects with FRDA.
• To assess the safety and tolerability of IFN-g at the currently approved dose in the FRDA population.

Study Phases:

Screening - During screening, subjects will be assessed for inclusion and exclusion criteria.

Intervention - Subjects will begin treatment at baseline visit and the dose of study medication will be increased to the maximum dose over four weeks. The subjects will be maintained at the maximum dose for 8 weeks. After 12 weeks, treatment will stop. Study medication will be administered via subcutaneous injections three times per week for 12 weeks.

Follow-up - Follow-up visits will occur at 7 and 28 days after the subject has completed the 12 weeks of active treatment.

Inclusion Criteria:

• Subjects with FRDA confirmed by genetic testing with 2 expanded Guanine-adenine-adenine repeats
• Females who are not pregnant or breast feeding, and who do not intend to become pregnant. Females of child-bearing potential must use a reliable method of contraception and must provide a negative urine pregnancy test at screening
• Stable doses of all medications, vitamins and supplements for 30 days prior to study entry and for the duration of the study
• Parent/guardian permission (informed consent) and child assent

Exclusion Criteria:

• Any unstable illness that in the investigator's opinion precludes participation in this study
• Use of any investigational product within 30 days prior to enrollment
• Subjects with a history of substance abuse
• Presence of clinically significant cardiac disease
• History of hypersensitivity to IFN-g or E. coli derived products
• Presence of severe renal disease or hepatic disease
• Clinically significant abnormal White blood cell count, hemoglobin or platelet count
• Any subject planning a scheduled surgical procedure during the study