Carpal Tunnel/Amyloidosis Blood Sample Study
Status: | Recruiting |
---|---|
Conditions: | Orthopedic, Hematology |
Therapuetic Areas: | Hematology, Orthopedics / Podiatry |
Healthy: | No |
Age Range: | 18 - Any |
Updated: | 11/30/2018 |
Start Date: | February 24, 2016 |
End Date: | November 2020 |
Collection of Peripheral Blood Samples From Patients With Carpal Tunnel Syndrome for Laboratory Screening of Amyloidosis
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.
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.
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.
Inclusion Criteria:
- 1. Patients with diagnosed carpal tunnel syndrome based on Electromyography (EMG)
results.
- 2. Patients with electrographic confirmation of median neuropathy at the wrist
- 3. Age ≥18 years
- 4. Ability to understand and willingness to sign a written informed consent document.
Exclusion Criteria:
- 1. Patients receiving hemodialysis
- 2. Known amyloidosis
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