Clinical Trial: Interferon Gamma-1b in Friedreich Ataxia (FRDA)
Study Status: Completed
Recruit Status: Completed
Study Type: Interventional
Official Title: Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia (FRDA)
Brief Summary: 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.
Detailed Summary:
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.
Sponsor: Children's Hospital of Philadelphia
Current Primary Outcome: Change in Whole Blood Frataxin Levels [ Time Frame: Frataxin levels were measured at the beginning and conclusion of treatment (baseline and 12 weeks) ]
Original Primary Outcome: Number of subjects with changes in Frataxin protein levels in Buccal cells and whole blood [ Time Frame: Day 0 (screening/baseline), 14, 28, 56, 84, 91, and 112 ]
Current Secondary Outcome: Change in Total Friedreich Ataxia Rating Scale (FARS) Score [ Time Frame: FARS score was calculated at the beginning and conclusion of treatment (baseline and 12 weeks) ]
Original Secondary Outcome:
- number of participants with changes in Neurological outcomes [ Time Frame: Day 0 (Screening/Baseline), 28, 84, and 112 ]Assess the effect of IFN-g on neurological outcomes including neurologic exam (Friedreich ataxia rating scale), timed 25-foot walk, timed 9-hole pegboard test, vision testing (high and low contrast), and hearing testing in subjects with FRDA.
- Number of participants with changes in Quality of Life [ Time Frame: Day 0 (screening/baseline), 14, 28, 56, 84, 91,and 112 ]Assess the effectiveness of IFN-g on quality of life in subjects with FRDA via a series of questionnaires. Questionnaires include an activities of daily living form, the modified fatigue impact scale, and the clinical global impression scale (performed by the PI and parents separately). In addition, parents and study subjects will complete a Pediatric Quality of Life questionnaire, which is age-specific.
- Number of adverse events [ Time Frame: Day 14, 28, 56, 84, 91,and 112 ]Assess the safety and tolerability of IFN-g at the currently approved dose in the FRDA population. Number of adverse events, flu-like symptoms, and injection-site reactions will be assessed.
Information By: Children's Hospital of Philadelphia
Dates:
Date Received: August 27, 2013
Date Started: August 2013
Date Completion:
Last Updated: April 29, 2015
Last Verified: April 2015