NCT02985710

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 102 (actual)
• Sponsor: Massachusetts General Hospital · Academic / Other
• Sex: All
• Age: 8 Years – 70 Years
• Healthy volunteers: Accepted

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.

Detailed 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.

Conditions

• Small Fiber Neuropathy
• Fabry Disease
• Ehlers Danlos Syndrome
• Mitochondrial Disease

Interventions

Type	Name	Description
DEVICE	Sudoscan	The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.
PROCEDURE	Skin biopsy	For subjects that give additional consent, skin biopsy will be done in standard fashion under sterile conditions. Assessment of nerve fiber density typically involves a 3-mm punch biopsy of skin from the leg (10 cm above the external malleolus).
PROCEDURE	QSART	QSRT (quantitative sudomotor axon reflex test) testing involves having a technician wipe the subject's arms and leg with alcohol, then tissue to wipe it dry. Electrodes filled with acetylcholine are put on three areas of the leg and one on the wrist, stimulators are turned on and sweat responses are measured.

Timeline

• Start date: 2016-08-01
• Primary completion: 2019-12-22
• Completion: 2020-08-01
• First posted: 2016-12-07
• Last updated: 2021-10-07
• Results posted: 2021-10-07

Locations

1 site across 1 country: United States