Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

Fabry Disease Clinical Trial

Official title: Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

Status Completed

Clinical Trial Summary

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.

Clinical Trial Description

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. ;

Related Conditions & MeSH terms

• Ehlers Danlos Syndrome
• Ehlers-Danlos Syndrome
• Fabry Disease
• Mitochondrial Disease
• Mitochondrial Diseases
• Rare Diseases
• Small Fiber Neuropathy

• NCT number: NCT02985710
• Study type: Interventional
• Source: Massachusetts General Hospital
• Status: Completed
• Phase: N/A
• Start date: August 2016
• Completion date: August 2020