IRB Study Number 17-1301
Status Recruiting
Location Cleveland Clinic Main Campus
Institute Heart and Vascular Institute
Description
The primary purpose of this research study is to understand the effectiveness of using a blood test to monitor early disease progression of hereditary transthyretin (TTR) amyloidosis. Amyloidosis is a condition that may lead to heart dysfunction (known as cardiac amyloidosis) and/or peripheral neuropathy (tingling, numbness in the extremities). Patients with an inherited mutation in the TTR amyloid gene are more likely to develop cardiac amyloidosis and/or peripheral neuropathy than the general population, but there is currently no widely accepted test used to monitor early disease progression prior to the onset of symptoms. A blood test has been developed by The Scripps Research Institute that detects changes in the TTR protein that may indicate early disease process.
This study is designed to examine the effectiveness of using this blood test to detect early disease progression in patients with a known inherited mutation of the TTR amyloid gene.
Inclusion Criteria
- Patients with known hereditary TTR amyloid genetic mutations as identified by genetic testing.
Exclusion Criteria
- Patients with TTR amyloidosis identified as wild-type.
