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N/A N=102 Diagnostic

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

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

Enrolled (actual)
102
Serious AEs
0.0%
Results posted
Oct 2021
Primary outcome: Primary: Number of Patients With Abnormal Electrochemical Skin Conductance in the Different Study Groups Who Have Clinical Symptoms Consistent With Small Fiber Polyneuropathy. — 42; 12 Participants

Study Design & Population

Study type
Interventional
Phase
N/A
Interventions
Sudoscan (Device); Skin biopsy (Procedure); QSART (Procedure)
Age
Pediatric, Adult, Older Adult · 8+ yrs
Sex
All
Sponsor
Massachusetts General Hospital
Primary completion
Dec 2019

Outcome Measures

OutcomeResultp-value
PRIMARY
Number of Patients With Abnormal Electrochemical Skin Conductance in the Different Study Groups Who Have Clinical Symptoms Consistent With Small Fiber Polyneuropathy.
42; 12
SECONDARY
Number of Patients in Whom a Specific Skin Conductance (ESC) Signature Pattern Was Detected in the Hands and/or Feet on Sudoscan Measurements.
21; 16

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.

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
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT02985710). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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