Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 102
- 试验地点
- 2
- 主要终点
- Number of Patients With Abnormal Electrochemical Skin Conductance in the Different Study Groups Who Have Clinical Symptoms Consistent With Small Fiber Polyneuropathy.
研究概览
简要总结
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction. Several small studies have recently shown that Sudoscan use in the assessment of small fiber polyneuropathy (in diabetes mellitus) can be performed non-invasively, quickly and effectively. The investigators aim to study the use of Sudoscan in rare disease condition associated with small fiber polyneuropathy.
详细描述
Small fiber polyneuropathy (SFPN) is diagnosed through a combination of symptoms, signs and confirmatory diagnostic testing. Nerve conduction studies are not sensitive enough in most of the cases leaving the ankle skin biopsy with measurement of intraepidermal nerve fiber density (IENFD) as the main diagnostic tool. Despite its utility and reproducibility, skin biopsy is invasive, expensive and requires a central laboratory for processing and interpretation. Quantitative sudomotor axon reflex testing (QSART) is also routinely used for evaluation of small fiber neuropathy as sudomotor axons can also be involved. This test however remains technically challenging and requires testing conditions in specialized labs that are not always suitable for all patients' population. By comparing findings on skin biopsy and/or QSRT, accepted gold standard for diagnosing SFPN, the investigators seek to find faster, less-invasive ways to diagnose and monitor small-fiber polyneuropathy in rare diseases using Sudoscan measurement.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 8 Years 至 70 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Males and females with confirmed disease: Fabry (by GLA enzymes and/or DNA testing) naïve and on ERT, Mitochondrial diseases (electron transport chain and/or DNA testing) or connective tissue diseases (clinical criteria and/or DNA testing when available)
- •Consenting adults (18 years and older) who agrees and consents to skin biopsy and QSART procedure
排除标准
- •Subjects with cognitive, psychiatric, or other problems that preclude informed consent.
- •Patients with history of glucose intolerance or diabetes.
- •Patient on chemotherapy
- •People with any open or bleeding wounds at any sensor plate contact surface location
- •People with any type of implantable device
- •People with missing hand(s) and/or leg(s)
- •Pregnant women or women who are uncertain about a possible pregnancy
- •Patients sensitive to chemicals used to induce sweating
- •Patients with heat intolerance
- •Patients with bleeding disorders
- •Patients on current anticoagulant therapy
- •Patients with keloids on the intended biopsy site
- •People with hypersensitivity to local amide-type anesthetics
结局指标
主要结局
Number of Patients With Abnormal Electrochemical Skin Conductance in the Different Study Groups Who Have Clinical Symptoms Consistent With Small Fiber Polyneuropathy.
时间窗: 12 months
The internal software of the Sudoscan will allow analysis of skin conductance in all patients and quantification into normal or abnormal. Correlation of an abnormal conductance measurement with clinical symptoms and signs of small fiber neuropathy will be evaluated for accuracy of Sudoscan measurements
次要结局
- Number of Patients in Whom a Specific Skin Conductance (ESC) Signature Pattern Was Detected in the Hands and/or Feet on Sudoscan Measurements.(48 months)
研究者
Amel Karaa
MD
Massachusetts General Hospital