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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Sudoscan only | Other | Patients in this arm will only undergoing testing with Sudoscan. |
|
| Sudoscan Plus | Other | Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Sudoscan | Device | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 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 | 12 months |
| Measure | Description | Time Frame |
|---|---|---|
| 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. |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Amel Karaa, MD | Massachusetts General Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Massachusetts General Hospital | Boston | Massachusetts | 02114 | United States |
Scientific publication at the end of the study
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| ID | Title | Description |
|---|---|---|
| FG000 | Sudoscan Only | Patients in this arm will only undergoing testing with Sudoscan. 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. |
| FG001 | Sudoscan Plus | Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing. 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. 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). 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. |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Sudoscan Only | Patients in this arm will only undergoing testing with Sudoscan. 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. |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | 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 | Posted | Count of Participants | Participants | 12 months |
|
4 years
This study did not include any intervention that would cause mortality or any serious adverse events.
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Sudoscan Only | Patients in this arm will only undergoing testing with Sudoscan. 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. |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| PI | Massachusetts General Hospital | 6177260580 | akaraa@mgh.harvard.edu |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP | Yes | Yes | No | Study Protocol and Statistical Analysis Plan | Jan 20, 2021 | Jul 19, 2021 | Prot_SAP_000.pdf |
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| ID | Term |
|---|---|
| D000071075 | Small Fiber Neuropathy |
| D000795 | Fabry Disease |
| D004535 | Ehlers-Danlos Syndrome |
| D028361 | Mitochondrial Diseases |
| ID | Term |
|---|---|
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D013106 | Sphingolipidoses |
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|
| Skin biopsy | Procedure | 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). |
|
| QSART | Procedure | 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. |
|
|
| 48 months |
| BG001 |
| Sudoscan Plus |
Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing. 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. 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). 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. |
| BG002 | Total | Total of all reporting groups |
| Participants |
|
| Age, Continuous | Median | Standard Deviation | years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Race (NIH/OMB) | Count of Participants | Participants |
|
| Region of Enrollment | Count of Participants | Participants |
|
| Small fiber polyneuropathy questionnaire | The SFPN questionnaire has a one week recall period and is composed of 5 domains: Miscellaneous (10 questions), Sensation (8 questions), Circulation (6 questions), Gastrointestinal (6 questions), Pelvic (4 questions) as well as a pain rating scale and clinical questions. Participants who specifically agreed to respond to the SFPN questionnaire are included and the numbers reported represent the number of participants who have responded to the questionnaire. | Count of Participants | Participants |
|
| OG001 | Sudoscan Plus | Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing. 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. 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). 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. |
|
|
| Secondary | 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. | Posted | Count of Participants | Participants | 48 months |
|
|
|
| 0 |
| 65 |
| 0 |
| 65 |
| 0 |
| 65 |
| EG001 | Sudoscan Plus | Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing. 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. 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). 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. | 0 | 33 | 0 | 33 | 0 | 33 |
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| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D020141 | Hemostatic Disorders |
| D006474 | Hemorrhagic Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D003095 | Collagen Diseases |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D012871 | Skin Diseases |