DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis
Completed
- Conditions
- Familial Amyloidotic Cardiomyopathy (FAC)
- Registration Number
- NCT02252653
- Lead Sponsor
- Alnylam Pharmaceuticals
- Brief Summary
The purpose of this study is to characterize the frequency of TTR mutations in subjects suspected of having cardiac amyloidosis
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 1010
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
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Proportion of patients with of Transthyretin (TTR) mutations Baseline Blood will be sequenced for the presence of TTR gene mutations
- Secondary Outcome Measures
Name Time Method Assessment of the presence of amyloid in tissue Day 30 An optional fine-needle aspirate of the abdominal fat pad will be collected
Quantification of biomarkers of cardiac function in serum Day 30 Biomarkers that assess cardiac function will be quantified from serum
Measurement of echocardiogram parameters Day 30 Cardiac structure and function will be measured by echocardiogram
New York Heart Association (NYHA) Functional Classification Day 30 NYHA Functional Classification will be determined
Results from 6-Minute Walk Test Day 30 Total distance walked in 6 minutes will be measured
Trial Locations
- Locations (1)
Clinical Trial Site
🇬🇧London, United Kingdom