NCT04255680已完成不适用
A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- Difference in frataxin levels, specific RNAs and proteins
研究概览
简要总结
To test the variability of specific ribonucleic acid (RNA) and proteins as well as frataxin levels in samples of blood and buccal cells taken directly from patients with Friedreich's ataxia (FRDA) in order to confirm potential new biomarkers of disease in patients with FRDA.
详细描述
Primary Objective:
The primary objective of this study is to identify whether frataxin levels and specific RNAs and proteins in blood and buccal cells differ between patients with FRDA and controls.
Secondary Objective:
The secondary objectives of this study are:
- To understand the variability of frataxin and specific RNAs and proteins identified in buccal cells.
- To correlate levels of frataxin and specific RNAs and proteins with features of FRDA.
- To correlate levels of frataxin and specific RNAs and proteins with triglycerides, high density lipoprotein (HDL), low density lipoprotein (LDL) levels, and other lipids.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 12 Years 至 65 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male and female patients with FRDA confirmed by genetic testing (FRDA subjects only).
- •Children and adults between the ages of 12 and 65 (inclusive); age for controls will be +/- 2 years relative to FRDA subjects.
- •Subject (and/or parent/legal guardian) has voluntarily signed consent form.
- •Willingness and ability to comply with all study procedures.
- •Functional Disability Stage (FDS) of 3, 4, or 5 (FRDA subjects only).
排除标准
- •Treatment with an investigational product within 30 days of study.
- •Use of gamma interferon or receiving any dose of gamma interferon within 90 days of the specimen collection day.
- •Use of any statin medications within 90 days of the specimen collection day.
- •Use of any lipid-lowering agents within 6 weeks of the specimen collection day.
- •Use of daily biotin supplementation that exceeds 30 mcg/day, either as part of a multivitamin or as a standalone supplement, within 7 days of the study visit.
- •Pregnant women.
结局指标
主要结局
Difference in frataxin levels, specific RNAs and proteins
时间窗: 1 day
Difference in frataxin levels, specific RNAs and proteins between FRDA patients and control patients.
次要结局
- Correlation of frataxin levels, specific RNAs and proteins in FRDA patients(1 day)
- Correlation of frataxin levels, specific RNAs and proteins(1 day)
- Variability in frataxin levels, specific RNAs and proteins(1 day)
研究者
研究点 (1)
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