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Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

Primary Purpose

Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome

Status

Completed

Phase

Not Applicable

Locations

United States

Study Type

Interventional

Intervention

Sudoscan

Skin biopsy

QSART

About this trial

This is an interventional diagnostic trial for Small Fiber Neuropathy

Eligibility Criteria

8 Years - 70 Years (Child, Adult, Older Adult)All SexesAccepts Healthy Volunteers

Inclusion Criteria:

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

Exclusion Criteria:

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

Sites / Locations

Massachusetts General Hospital

Arms of the Study

Arm 1

Arm 2

Arm Type

Other

Arm Label

Sudoscan only

Sudoscan Plus

Arm Description

Patients in this arm will only undergoing testing with Sudoscan.

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

Outcomes

Primary Outcome Measures

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

Secondary Outcome Measures

Number of Patients in Whom a Specific Skin Conductance (ESC) Signature Pattern Was Detected in the Hands and/or Feet on Sudoscan Measurements.

Distribution of the electrochemical skin conductance (ESC) in both hands and feet was reviewed as an indirect measure of the subject's capacity to sweat. Normative scales of adult sweat function are preloaded in the device and compared to actual measurements to determine if a subject's sweat response is reduced, which is associated with neuropathy. A positive outcome is the identification of a lower ESC in either hands or feet that distinguishes Fabry disease from other disorders and would be a reflection of the presence of SFPN.

Full Information

NCT ID

NCT02985710

First Posted

September 12, 2016

Last Updated

September 10, 2021

Sponsor

Massachusetts General Hospital

1. Study Identification

Unique Protocol Identification Number

NCT02985710

Brief Title

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

Official Title

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

Study Type

Interventional

2. Study Status

Record Verification Date

September 2021

Overall Recruitment Status

Completed

Study Start Date

August 2016 (undefined)

Primary Completion Date

December 22, 2019 (Actual)

Study Completion Date

August 2020 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Principal Investigator

Name of the Sponsor

Massachusetts General Hospital

4. Oversight

Data Monitoring Committee

5. Study Description

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.

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

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

7. Study Design

Primary Purpose

Diagnostic

Study Phase

Not Applicable

Interventional Study Model

Parallel Assignment

Masking

None (Open Label)

Allocation

Non-Randomized

Enrollment

102 (Actual)

8. Arms, Groups, and Interventions

Arm Title

Sudoscan only

Arm Type

Other

Arm Description

Patients in this arm will only undergoing testing with Sudoscan.

Arm Title

Sudoscan Plus

Arm Type

Other

Arm Description

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

Intervention Type

Device

Intervention Name(s)

Sudoscan

Intervention Description

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.

Intervention Type

Procedure

Intervention Name(s)

Skin biopsy

Intervention Description

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).

Intervention Type

Procedure

Intervention Name(s)

QSART

Other Intervention Name(s)

Quantitative Sudomotor Autonomic Reflex Testing

Intervention Description

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.

Primary Outcome Measure Information:

Title

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

Description

Time Frame

12 months

Secondary Outcome Measure Information:

Title

Number of Patients in Whom a Specific Skin Conductance (ESC) Signature Pattern Was Detected in the Hands and/or Feet on Sudoscan Measurements.

Description

Time Frame

48 months

10. Eligibility

Sex

All

Minimum Age & Unit of Time

8 Years

Maximum Age & Unit of Time

70 Years

Accepts Healthy Volunteers

Eligibility Criteria

Inclusion Criteria: 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 Exclusion Criteria: 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

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

Amel Karaa, MD

Organizational Affiliation

Massachusetts General Hospital

Official's Role

Principal Investigator

Facility Information:

Facility Name

Massachusetts General Hospital

City

Boston

State/Province

Massachusetts

ZIP/Postal Code

02114

Country

United States

12. IPD Sharing Statement

Plan to Share IPD

IPD Sharing Plan Description

Scientific publication at the end of the study

Learn more about this trial

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

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