Neurological Measures of Progression in Children With Friedrich Ataxia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 108
- 试验地点
- 3
- 主要终点
- Change in mFARS (Modified Friedreich's Ataxia Rating Scale) Score
研究概览
简要总结
The purpose of this study is to identify ways to follow progression of Friedreich's Ataxia (FA) and be able to measure changes over time in children with FA. Participants will have biannual visits to observe how the disease progresses over time and determine the rate of progression.
Funding Source- Food and Drug Administration Office of Orphan Products Development (FDA OOPD).
详细描述
Investigators seek to identify biological and clinical tests to be used in future clinical trials. The purpose of this research study is to learn more about Friedreich's Ataxia (FA) progression in children. There will be biannual visits which will include a core set of tests and procedures. These include: a collection of medical history, detailed neurological exam, ataxia scales, and health questionnaires. At each visit, blood and cheek swab samples will be obtained to monitor frataxin levels.
A select number of Children's Hospital of Philadelphia (CHOP) participants will have the opportunity to participate in further procedures to better understand how FA affects different tissues. These include a Magnetic Resonance Imaging (MRI) scan and a Motor Evoked Potentials (MEP) procedure.
The MRI scan analyzes how muscle activity is affected in FA. The magnet will be used to capture images of the calf muscle before and after exercising on an ergonomic foot pedal.
The MEP procedure measures how strong the connection is between the brain's motor cortex and a selected body part, specifically the participant's dominant hand.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Males or females age 2 to 18 years.
- •Genetically confirmed diagnosis of Friedreich's Ataxia (FA) or clinically confirmed diagnosis of FA, pending confirmatory genetic testing through a commercial or research laboratory
- •Parental/guardian permission (informed consent) and if appropriate, child assent.
排除标准
- •Inability to complete study evaluations
结局指标
主要结局
Change in mFARS (Modified Friedreich's Ataxia Rating Scale) Score
时间窗: Baseline up to 36 Months
The Friedreich Ataxia Rating Scale (FARS) measures neurological function in FA. It is a composite measure reflecting neural substrates with five-subscales (sections A to E), measuring bulbar function, upper limb coordination, lower limb coordination, peripheral nerves, and upright stability. The modified FARS (mFARS) shortens the bulbar subscale to 2 items and excludes the peripheral nerve subscale. Total scoring is a summation of subscales, with a maximum score of 93 points for mFARS and 125 for FARS. The mFARS score ranges for each subscale are: Bulbar: 0 - 5, Upper Limb: 0 - 36, Lower Limb: 0 - 16, Upright Stability: 0 - 36. The overall change in mFARS and its sub scores across 3 years was the outcome measure analyzed at 0, 1, 2, and 3 year visits. Each subsection has a minimum score of 0, indicating minimal effect for that component. Maximum values per section vary based on the tasks performed in each subsection; a higher score indicates greater dysfunction on that component.
次要结局
- Change in Timed 25-Foot Walk (T25FW) Test(Baseline up to 36 Months)
- Change in 9-Hole Peg Test (9HPT)(Baseline up to 36 Months)
- Change in Timed Up and Go (TUG) Test(Baseline up to 36 Months)
- Change in Berg Balance Scale (Full Length) (BBS) Score(Baseline up to 36 Months)
- Change in FA-Activities of Daily Living Scale (ADL) Score(Baseline up to 36 Months)
- Change in 1-minute Walk (1MW) and 6-minute Walk (6MW) Tests(Baseline up to 36 Months)