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Trial record 23 of 31 for:    Ehlers-Danlos Syndrome

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

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ClinicalTrials.gov Identifier: NCT02985710
Recruitment Status : Recruiting
First Posted : December 7, 2016
Last Update Posted : August 16, 2018
Sponsor:
Information provided by (Responsible Party):
Amel Karaa, Massachusetts General Hospital

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.

Condition or disease Intervention/treatment Phase
Small Fiber Neuropathy Fabry Disease Ehlers Danlos Syndrome Mitochondrial Disease Device: Sudoscan Procedure: Skin biopsy Procedure: QSART Not Applicable

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.

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 100 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Study Start Date : August 2016
Estimated Primary Completion Date : February 2019
Estimated Study Completion Date : August 2019


Arm Intervention/treatment
Sudoscan only
Patients in this arm will only undergoing testing with Sudoscan.
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.

Sudoscan Plus
Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing.
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.
Other Name: Quantitative Sudomotor Autonomic Reflex Testing




Primary Outcome Measures :
  1. Number of patients with abnormal electrochemical skin conductance in the different study groups who have clinical symptoms consistent with small fiber polyneuropathy. [ Time Frame: 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


Secondary Outcome Measures :
  1. Number of patients with skin biopsy and QSART consistent with a small fiber polyneuropathy who also had abnormal skin conductance finding on Sudoscan measurements. [ Time Frame: 12 months ]


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Ages Eligible for Study:   8 Years to 70 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02985710


Contacts
Contact: Erica L Kelly 617 724 7726 elkelly@mgh.harvard.edu

Locations
United States, Massachusetts
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02114
Contact: Erica L Kelly    617-724-7726    elkelly@mgh.harvard.edu   
Principal Investigator: Amel Karaa, MD         
Sponsors and Collaborators
Massachusetts General Hospital
Investigators
Principal Investigator: Amel Karaa, MD Massachusetts General Hospital

Responsible Party: Amel Karaa, MD, Massachusetts General Hospital
ClinicalTrials.gov Identifier: NCT02985710     History of Changes
Other Study ID Numbers: 2015P000205
First Posted: December 7, 2016    Key Record Dates
Last Update Posted: August 16, 2018
Last Verified: August 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Scientific publication at the end of the study

Additional relevant MeSH terms:
Ehlers-Danlos Syndrome
Rare Diseases
Fabry Disease
Mitochondrial Diseases
Small Fiber Neuropathy
Disease Attributes
Pathologic Processes
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Hemostatic Disorders
Hemorrhagic Disorders
Hematologic Diseases
Skin Abnormalities