Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications, Gastrointestinal, Hematology, Metabolic |
| Therapuetic Areas: | Gastroenterology, Hematology, Pharmacology / Toxicology, Other |
| Healthy: | No |
| Age Range: | 8 - 70 |
| Updated: | 8/18/2018 |
| Start Date: | August 2016 |
| End Date: | August 2019 |
| Contact: | Erica L Kelly |
| Email: | elkelly@mgh.harvard.edu |
| Phone: | 617 724 7726 |
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.
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.
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.
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.
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
We found this trial at
1
site
185 Cambridge Street
Boston, Massachusetts 02114
Boston, Massachusetts 02114
617-724-5200
Principal Investigator: Amel Karaa, MD
Phone: 617-724-7726
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