Early Detection of Peripheral Neuropathy in Hereditary Transthyretin Amyloidosis
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 47
- 试验地点
- 2
- 主要终点
- Change in Serum neurofilament light chain
研究概览
简要总结
The purpose of the study is to evaluate and compare different tools that are used to detect evidence of peripheral neuropathy in patients with TTRv.
详细描述
Early detection of peripheral neuropathy in patients with TTRv is important to support initiation of therapy that alters the course of the disease. Current tools used to detect peripheral neuropathy may not be sensitive, especially in very early and distal peripheral neuropathy. This study will compare different methods of assessing for peripheral neuropathy including using in-vivo reflectance confocal microscopy to assess for meissner corpuscles, serum neurofilament light chain, quantitative sensory testing, neuropathy impairement scores, nerve conduction studies and quality of life and symptoms questionnaires.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 30 Years 至 90 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients with known TTR mutations and neuropathy
- •Patients with TTR mutation and no symptoms within less than 10 years of typical onset of disease
- •Age criteria must meet the following:
- •Non V122I mutations, Age 40 or older.
- •V122 I mutations, 55 or older.
- •Healthy persons without neuropathy
- •The following distribution of age ranges will be considered when enrolling healthy participants:
- •5 patients age 30-40
- •5 patients age 40-50
- •5 patients age 50-60
- •5 patients age 60-70
- •Healthy control subjects for this study are defined as subjects with no symptoms of neuropathy or risk factors for neuropathy such as family history of hereditary neuropathy, chemotherapy, diabetes, autoimmune disease, or vitamin deficiency. Their status will be verified by medical records review.
排除标准
- •Patients with neuropathy other than TTR amyloid
- •Subjects with risk factors for neuropathy (diabetes, history of neuropathy in the family, neurotoxic drugs) or with neurological disorder associated with elevated NFL
研究组 & 干预措施
Symptomatic TTRv
Patients with known TTR mutations and neuropathy
干预措施: neurofilament light chain (Diagnostic Test)
Symptomatic TTRv
Patients with known TTR mutations and neuropathy
干预措施: In-vivo Meissner Corpuscle imaging (Diagnostic Test)
Symptomatic TTRv
Patients with known TTR mutations and neuropathy
干预措施: Nerve conduction study (Diagnostic Test)
Asymptomatic TTRv
Patients with TTR mutation and no symptoms within less than 10 years of typical onset of disease
干预措施: neurofilament light chain (Diagnostic Test)
Asymptomatic TTRv
Patients with TTR mutation and no symptoms within less than 10 years of typical onset of disease
干预措施: In-vivo Meissner Corpuscle imaging (Diagnostic Test)
Asymptomatic TTRv
Patients with TTR mutation and no symptoms within less than 10 years of typical onset of disease
干预措施: Nerve conduction study (Diagnostic Test)
Healthy controls
Age and sex matched healthy controls without neuropathy or other neurological disorder.
干预措施: neurofilament light chain (Diagnostic Test)
Healthy controls
Age and sex matched healthy controls without neuropathy or other neurological disorder.
干预措施: In-vivo Meissner Corpuscle imaging (Diagnostic Test)
Healthy controls
Age and sex matched healthy controls without neuropathy or other neurological disorder.
干预措施: Nerve conduction study (Diagnostic Test)
结局指标
主要结局
Change in Serum neurofilament light chain
时间窗: 12 months
Change in Serum neurofilament light chain concentration at 12 months
Meissner corpuscles
时间窗: 12 months
Change in Meissner corpuscles density at 12 months
次要结局
- Quantitative sensory testing(12 months)
- Neuropathy symptoms questionnaire(12 months)
- Neuropathy impairment score(12 months)