Familial Amyloidotic Cardiomyopathy (FAC)
Conditions
Keywords
Cardiomyopathy, Heart Failure, FAC, Amyloid, Transthyretin (TTR)
Brief summary
The purpose of this study is to characterize the frequency of TTR mutations in subjects suspected of having cardiac amyloidosis
Interventions
None listed
Sponsors
Alnylam Pharmaceuticals
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Proportion of patients with of Transthyretin (TTR) mutations | Baseline | Blood will be sequenced for the presence of TTR gene mutations |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
Belgium, Brazil, France, Spain, United Kingdom, United States
Outcome results
None listed