Familial Amyloidotic Cardiomyopathy (FAC) Clinical Trial
Official title:
DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis
| Verified date | July 2016 |
| Source | Alnylam Pharmaceuticals |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | United States: Institutional Review Board |
| Study type | Observational |
The purpose of this study is to characterize the frequency of TTR mutations in subjects suspected of having cardiac amyloidosis
| Status | Completed |
| Enrollment | 1010 |
| Est. completion date | March 2016 |
| Est. primary completion date | January 2016 |
| Accepts healthy volunteers | No |
| Gender | Both |
| Age group | 18 Years and older |
| Eligibility |
Inclusion Criteria: - Males or females >18 years old - History of evidence suggestive of cardiac amyloidosis - Subject is willing and able to comply with protocol required assessments and provide written informed consent Exclusion Criteria: - Known diagnosis of primary (AL) amyloidosis - Known diagnosis of hereditary cardiomyopathy or cardiomyopathy due to aortic stenosis - Patient is currently pregnant |
Observational Model: Cohort, Time Perspective: Prospective
| Country | Name | City | State |
|---|---|---|---|
| Belgium | Clinical Trial Site | Anderlecht | |
| Belgium | Clinical Trial Site | Brussels | |
| Belgium | Clinical Trial Site | Hasselt | |
| Belgium | Clinical Trial Site | Roeselare | |
| Brazil | Clinical Trial Site | Blumenau | |
| France | Clinical Trial Site | Bordeaux | |
| France | Clinical Trial Site | Toulouse Cedex | |
| France | Clinical Trial Site | Vandoeuvre-lès-Nancy | |
| Spain | Clinical Trial Site | Barcelona | |
| Spain | Clinical Trial Site | Barcelona | |
| Spain | Clinical Trial Site | Madrid | |
| Spain | Clinical Trial Site | Seville | |
| United Kingdom | Clinical Trial Site | Cardiff | |
| United Kingdom | Clinical Trial Site | London | |
| United Kingdom | Clinical Trial Site | London | |
| United States | Clinical Trial Site | Athens | Georgia |
| United States | Clinical Trial Site | Atlanta | Georgia |
| United States | Clinical Trial Site | Atlanta | Georgia |
| United States | Clinical Trial Site | Aurora | Colorado |
| United States | Clinical Trial Site | Bakersfield | California |
| United States | Clinical Trial Site | Baltimore | Maryland |
| United States | Clinical Trial Site | Boston | Massachusetts |
| United States | Clinical Trial Site | Bronx | New York |
| United States | Clinical Trial Site | Camden | New Jersey |
| United States | Clinical Trial Site | Charleston | South Carolina |
| United States | Clinical Trial Site | Chicago | Illinois |
| United States | Clinical Trial Site | Chicago | Illinois |
| United States | Clinical Trial Site | Chicago | Illinois |
| United States | Clinical Trial Site | Cleveland | Ohio |
| United States | Clinical Trial Site | Detroit | Michigan |
| United States | Clinical Trial Site | Durham | North Carolina |
| United States | Clinical Trial Site | Falls Church | Virginia |
| United States | Clinical Trial Site | Fort Worth | Texas |
| United States | Clinical Trial Site | Jackson | Mississippi |
| United States | Clinical Trial Site | La Mesa | California |
| United States | Clinical Trial Site | Little Rock | Arkansas |
| United States | Clinical Trial Site | Los Angeles | California |
| United States | Clinical Trial Site | Los Angeles | California |
| United States | Clinical Trial Site | Macon | Georgia |
| United States | Clinical Trial Site | Merrillville | Indiana |
| United States | Clinical Trial Site | Norfolk | Virginia |
| United States | Clinical Trial Site | Philadelphia | Pennsylvania |
| United States | Clinical Trial Site | Philadelphia | Pennsylvania |
| United States | Clinical Trial Site | Pittsburgh | Pennsylvania |
| United States | Clinical Trial Site | Plano | Texas |
| United States | Clinical Trial Site | Richmond | Virginia |
| United States | Clinical Trial Site | Richmond | Virginia |
| United States | Clinical Trial Site | Rochester | New York |
| United States | Clinical Trial Site | Rosedale | New York |
| United States | Clinical Trial Site | San Francisco | California |
| United States | Clinical Trial Site | Springfield | Massachusetts |
| United States | Clinical Trial Site | St. Louis | Missouri |
| United States | Clinical Trial Site | Tampa | Florida |
| United States | Clinical Trial Site | Torrance | California |
| United States | Clinical Trial Site | Washington | District of Columbia |
| United States | Clinical Trial Site | Washington | District of Columbia |
| United States | Clinical Trial Site | Washington | District of Columbia |
| United States | Clinical Trial Site | Williamsville | New York |
| Lead Sponsor | Collaborator |
|---|---|
| Alnylam Pharmaceuticals |
United States, Belgium, Brazil, France, Spain, United Kingdom,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Proportion of patients with of Transthyretin (TTR) mutations | Blood will be sequenced for the presence of TTR gene mutations | Baseline | No |
| Secondary | Assessment of the presence of amyloid in tissue | An optional fine-needle aspirate of the abdominal fat pad will be collected | Day 30 | No |
| Secondary | Quantification of biomarkers of cardiac function in serum | Biomarkers that assess cardiac function will be quantified from serum | Day 30 | No |
| Secondary | Measurement of echocardiogram parameters | Cardiac structure and function will be measured by echocardiogram | Day 30 | No |
| Secondary | New York Heart Association (NYHA) Functional Classification | NYHA Functional Classification will be determined | Day 30 | No |
| Secondary | Results from 6-Minute Walk Test | Total distance walked in 6 minutes will be measured | Day 30 | No |