Brief Summary
The purpose of this study is to characterize the frequency of TTR mutations in subjects suspected of having cardiac amyloidosis
Brief Title
DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis
Categories
Completion Date
Completion Date Type
Actual
Conditions
Familial Amyloidotic Cardiomyopathy (FAC)
Eligibility Criteria
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
* 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
Inclusion Criteria
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
* 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
Gender
All
Gender Based
false
Keywords
Cardiomyopathy
Heart Failure
FAC
Amyloid
Transthyretin (TTR)
Healthy Volunteers
No
Last Update Post Date
Last Update Post Date Type
Estimated
Last Update Submit Date
Minimum Age
18 Years
NCT Id
NCT02252653
Org Class
Industry
Org Full Name
Alnylam Pharmaceuticals
Org Study Id
ALN-TTR-NT-002
Overall Status
Completed
Primary Completion Date
Primary Completion Date Type
Actual
Official Title
DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis
Primary Outcomes
Outcome Description
Blood will be sequenced for the presence of TTR gene mutations
Outcome Measure
Proportion of patients with of Transthyretin (TTR) mutations
Outcome Time Frame
Baseline
Secondary Outcomes
Outcome Description
An optional fine-needle aspirate of the abdominal fat pad will be collected
Outcome Time Frame
Day 30
Outcome Measure
Assessment of the presence of amyloid in tissue
Outcome Description
Biomarkers that assess cardiac function will be quantified from serum
Outcome Time Frame
Day 30
Outcome Measure
Quantification of biomarkers of cardiac function in serum
Outcome Description
Cardiac structure and function will be measured by echocardiogram
Outcome Time Frame
Day 30
Outcome Measure
Measurement of echocardiogram parameters
Outcome Description
NYHA Functional Classification will be determined
Outcome Time Frame
Day 30
Outcome Measure
New York Heart Association (NYHA) Functional Classification
Outcome Description
Total distance walked in 6 minutes will be measured
Outcome Time Frame
Day 30
Outcome Measure
Results from 6-Minute Walk Test
Start Date
Status Verified Date
First Post Date
First Post Date Type
Estimated
First Submit Date
First Submit QC Date
Study Population
Subjects Suspected of Having Familial Amyloidotic Cardiomyopathy (FAC)
Std Ages
Adult
Older Adult
Maximum Age Number (converted to Years and rounded down)
999
Minimum Age Number (converted to Years and rounded down)
18
Investigators
Investigator Type
Principal Investigator
Investigator Name
James Tauras
Investigator Email
jtauras@montefiore.org
Investigator Phone