Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia (FRDA)
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 入组人数
- 12
- 试验地点
- 1
- 主要终点
- Change in Whole Blood Frataxin Levels
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 5 Years 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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
研究组 & 干预措施
Interferon Gamma-1b (ACTIMMUNE)
All individuals in this study will be given active medication (interferon gamma-1b) for 12 weeks. This will be administered according to a dose-escalation schedule.
干预措施: Interferon Gamma-1b (Drug)
结局指标
主要结局
Change in Whole Blood Frataxin Levels
时间窗: Frataxin levels were measured at the beginning and conclusion of treatment (baseline and 12 weeks)
Assessment of the change in whole blood frataxin levels as assessed by lateral flow assay using an immunoassay for frataxin. Frataxin levels in the blood were measured at each study visit. Change in frataxin level at the end of treatment (week 12) relative to frataxin level at baseline was analyzed.
次要结局
- Change in Total Friedreich Ataxia Rating Scale (FARS) Score(FARS score was calculated at the beginning and conclusion of treatment (baseline and 12 weeks))