Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Launched by MASSACHUSETTS GENERAL HOSPITAL · Dec 5, 2016
Trial Information
Current as of July 24, 2025
Completed
Keywords
ClinConnect Summary
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 ...
Gender
ALL
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
About Massachusetts General Hospital
Massachusetts General Hospital (MGH) is a leading academic medical center located in Boston, Massachusetts, renowned for its commitment to advancing medical research and patient care. As a prominent teaching hospital affiliated with Harvard Medical School, MGH plays a pivotal role in clinical trials across a wide range of disciplines, including cardiology, oncology, neurology, and more. The institution is dedicated to fostering innovative research that translates into effective therapies and improved health outcomes. MGH's Clinical Trials Office provides comprehensive support to facilitate the design, implementation, and management of clinical studies, ensuring adherence to the highest ethical standards and regulatory compliance. With a focus on collaboration and patient-centered care, MGH strives to enhance medical knowledge and contribute to the future of healthcare.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Boston, Massachusetts, United States
Boston, Massachusetts, United States
Patients applied
Trial Officials
Amel Karaa, MD
Principal Investigator
Massachusetts General Hospital
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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