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The purpose of this study is to characterize the frequency of TTR mutations in subjects suspected of having cardiac amyloidosis
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Familial Amyloidotic Cardiomyopathy (FAC) |
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| Measure | Description | Time Frame |
|---|---|---|
| Proportion of patients with of Transthyretin (TTR) mutations | Blood will be sequenced for the presence of TTR gene mutations | Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Assessment of the presence of amyloid in tissue | An optional fine-needle aspirate of the abdominal fat pad will be collected | Day 30 |
| Quantification of biomarkers of cardiac function in serum | Biomarkers that assess cardiac function will be quantified from serum |
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Inclusion Criteria:
Exclusion Criteria:
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Subjects Suspected of Having Familial Amyloidotic Cardiomyopathy (FAC)
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| Name | Affiliation | Role |
|---|---|---|
| Jared Gollob, MD | Alnylam Pharmaceuticals | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Clinical Trial Site | Little Rock | Arkansas | United States | |||
| Clinical Trial Site |
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Blood samples for TTR sequencing and cardiac function biomarkers; abdominal fat-pad aspirate for amyloid presence (optional for TTR positive patients only)
| Day 30 |
| Measurement of echocardiogram parameters | Cardiac structure and function will be measured by echocardiogram | Day 30 |
| New York Heart Association (NYHA) Functional Classification | NYHA Functional Classification will be determined | Day 30 |
| Results from 6-Minute Walk Test | Total distance walked in 6 minutes will be measured | Day 30 |
| Bakersfield |
| California |
| United States |
| Clinical Trial Site | La Mesa | California | United States |
| Clinical Trial Site | Los Angeles | California | 90073 | United States |
| Clinical Trial Site | Los Angeles | California | 90095 | United States |
| Clinical Trial Site | San Francisco | California | United States |
| Clinical Trial Site | Torrance | California | United States |
| Clinical Trial Site | Aurora | Colorado | United States |
| Clinical Trial Site | Washington D.C. | District of Columbia | 20010 | United States |
| Clinical Trial Site | Washington D.C. | District of Columbia | 20052 | United States |
| Clinical Trial Site | Washington D.C. | District of Columbia | 20422 | United States |
| Clinical Trial Site | Tampa | Florida | United States |
| Clinical Trial Site | Athens | Georgia | United States |
| Clinical Trial Site | Atlanta | Georgia | 30303 | United States |
| Clinical Trial Site | Atlanta | Georgia | 30310 | United States |
| Clinical Trial Site | Macon | Georgia | United States |
| Clinical Trial Site | Chicago | Illinois | 60611 | United States |
| Clinical Trial Site | Chicago | Illinois | 60612 | United States |
| Clinical Trial Site | Chicago | Illinois | 60637 | United States |
| Clinical Trial Site | Merrillville | Indiana | United States |
| Clinical Trial Site | Baltimore | Maryland | United States |
| Clinical Trial Site | Boston | Massachusetts | United States |
| Clinical Trial Site | Springfield | Massachusetts | United States |
| Clinical Trial Site | Detroit | Michigan | United States |
| Clinical Trial Site | Jackson | Mississippi | United States |
| Clinical Trial Site | St Louis | Missouri | United States |
| Clinical Trial Site | Camden | New Jersey | United States |
| Clinical Trial Site | Rochester | New York | United States |
| Clinical Trial Site | Rosedale | New York | United States |
| Clinical Trial Site | The Bronx | New York | United States |
| Clinical Trial Site | Williamsville | New York | United States |
| Clinical Trial Site | Durham | North Carolina | United States |
| Clinical Trial Site | Cleveland | Ohio | United States |
| Clinical Trial Site | Philadelphia | Pennsylvania | 19102 | United States |
| Clinical Trial Site | Philadelphia | Pennsylvania | 19104 | United States |
| Clinical Trial Site | Pittsburgh | Pennsylvania | United States |
| Clinical Trial Site | Charleston | South Carolina | United States |
| Clinical Trial Site | Fort Worth | Texas | United States |
| Clinical Trial Site | Plano | Texas | United States |
| Clinical Trial Site | Falls Church | Virginia | United States |
| Clinical Trial Site | Norfolk | Virginia | United States |
| Clinical Trial Site | Richmond | Virginia | 23249 | United States |
| Clinical Trial Site | Richmond | Virginia | 23298 | United States |
| Clinical Trial Site | Anderlecht | Belgium |
| Clinical Trial Site | Brussels | 1020 | Belgium |
| Clinical Trial Site | Hasselt | Belgium |
| Clinical Trial Site | Roeselare | Belgium |
| Clinical Trial Site | Blumenau | Brazil |
| Clinical Trial Site | Bordeaux | France |
| Clinical Trial Site | Toulouse | France |
| Clinical Trial Site | Vandœuvre-lès-Nancy | France |
| Clinical Trial Site | Barcelona | 8003 | Spain |
| Clinical Trial Site | Barcelona | 8907 | Spain |
| Clinical Trial Site | Madrid | Spain |
| Clinical Trial Site | Seville | Spain |
| Clinical Trial Site | Cardiff | United Kingdom |
| Clinical Trial Site | London | NW1 2BU | United Kingdom |
| Clinical Trial Site | London | SW17 0QT | United Kingdom |
| ID | Term |
|---|---|
| D009202 | Cardiomyopathies |
| D006333 | Heart Failure |
| D000544 | Alzheimer Disease |
| ID | Term |
|---|---|
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D003704 | Dementia |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D024801 | Tauopathies |
| D019636 | Neurodegenerative Diseases |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
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