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Carpal tunnel is an early manifestation of amyloidosis in a significant minority of patients. This specimen collection protocol will allow the investigators to screen patients with carpal tunnel syndrome for amyloidosis.
The investigators propose to assess a high risk population of patients, those with carpal tunnel syndrome, and systematically assess them for Amyloid Light-chain (AL) amyloidosis and Transthyretin-Related Amyloidosis (ATTR) with simple laboratory blood tests. The combination of serum immunofixation electrophoresis together with serum free light chain (FLC) assay approaches 100% sensitivity for identifying the monoclonal protein underlying the illness in patients with AL amyloidosis. In addition to this, testing for transthyretin gene mutations will allow the investigators to identify patients with ATTR. The investigators believe this simple screening panel (serum immunofixation and serum FLC assay and transthyretin mutation analysis) may allow the investigators to identify patients early in the course of their disease, at which point the investigators can intervene with effective treatment and spare patients a significant amount of morbidity and mortality.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Carpal Tunnel Blood Draw | Participants with confirmed diagnosis of Carpal Tunnel Syndrome who will undergo blood draw for laboratory analysis for amyloidosis. |
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| Measure | Description | Time Frame |
|---|---|---|
| Number of Participants Identified with Amyloidosis | Number of carpal tunnel syndrome patients identified with amyloidosis, which will be stratified into mild, moderate or severe | Up to 5 years |
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Inclusion Criteria:
Exclusion Criteria:
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Patients within 24 months of confirmed diagnosis of Carpal Tunnel Syndrome
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| Name | Affiliation | Role |
|---|---|---|
| James Hoffman, MD | University of Miami | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Miami | Miami | Florida | 33136 | United States |
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| ID | Term |
|---|---|
| D002349 | Carpal Tunnel Syndrome |
| D000686 | Amyloidosis |
| ID | Term |
|---|---|
| D020423 | Median Neuropathy |
| D020422 | Mononeuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
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Genome DNA extracted peripheral blood mononuclear cells (PBMCs)
| D009422 | Nervous System Diseases |
| D009408 | Nerve Compression Syndromes |
| D012090 | Cumulative Trauma Disorders |
| D013180 | Sprains and Strains |
| D014947 | Wounds and Injuries |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |