Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

NCT02985710 | Completed Results

• 1 other identifier: 2015P000205
• Study Type: interventional
• Target: 102
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

• Number of Patients With Abnormal Electrochemical Skin Conductance in the Different Study Groups Who Have Clinical Symptoms Consistent With Small Fiber Polyneuropathy.

  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

  12 months

Secondary Outcomes (1)

• 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

Study Arms (2)

Sudoscan only

OTHER

Patients in this arm will only undergoing testing with Sudoscan.

Device: Sudoscan

Sudoscan Plus

OTHER

Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing.

Device: Sudoscan; Procedure: Skin biopsy; Procedure: QSART

Interventions

Sudoscan DEVICE

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.

Sudoscan Plus; Sudoscan only

Skin biopsy PROCEDURE

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).

Sudoscan Plus

QSART PROCEDURE

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.

Also known as: Quantitative Sudomotor Autonomic Reflex Testing

Sudoscan Plus

Eligibility Criteria

• Age: 8 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Massachusetts General Hospital: lead

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

MeSH Terms

Conditions

Small Fiber Neuropathy; Fabry Disease; Ehlers-Danlos Syndrome; Mitochondrial Diseases

Condition Hierarchy (Ancestors)

Peripheral Nervous System Diseases; Neuromuscular Diseases; Nervous System Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Hemostatic Disorders; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Skin Diseases, Genetic; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases

Results Point of Contact

• Title: PI
• Organization: Massachusetts General Hospital

akaraa@mgh.harvard.edu

6177260580

Study Officials

• Amel Karaa, MD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: LTE60
• Restrictive Agreement: Yes

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: September 12, 2016
• First Posted: December 7, 2016
• Study Start: August 1, 2016
• Primary Completion: December 22, 2019
• Study Completion: August 1, 2020
• Last Updated: October 7, 2021
• Results First Posted: October 7, 2021

Record last verified: 2021-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)