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DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis

This study has been completed.
Information provided by (Responsible Party):
Alnylam Pharmaceuticals Identifier:
First received: September 22, 2014
Last updated: July 19, 2016
Last verified: July 2016
The purpose of this study is to characterize the frequency of TTR mutations in subjects suspected of having cardiac amyloidosis

Familial Amyloidotic Cardiomyopathy (FAC)

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis

Resource links provided by NLM:

Further study details as provided by Alnylam Pharmaceuticals:

Primary Outcome Measures:
  • Proportion of patients with of Transthyretin (TTR) mutations [ Time Frame: Baseline ]
    Blood will be sequenced for the presence of TTR gene mutations

Secondary Outcome Measures:
  • Assessment of the presence of amyloid in tissue [ Time Frame: Day 30 ]
    An optional fine-needle aspirate of the abdominal fat pad will be collected

  • Quantification of biomarkers of cardiac function in serum [ Time Frame: Day 30 ]
    Biomarkers that assess cardiac function will be quantified from serum

  • Measurement of echocardiogram parameters [ Time Frame: Day 30 ]
    Cardiac structure and function will be measured by echocardiogram

  • New York Heart Association (NYHA) Functional Classification [ Time Frame: Day 30 ]
    NYHA Functional Classification will be determined

  • Results from 6-Minute Walk Test [ Time Frame: Day 30 ]
    Total distance walked in 6 minutes will be measured

Biospecimen Retention:   Samples Without DNA
Blood samples for TTR sequencing and cardiac function biomarkers; abdominal fat-pad aspirate for amyloid presence (optional for TTR positive patients only)

Enrollment: 1010
Study Start Date: June 2014
Study Completion Date: March 2016
Primary Completion Date: January 2016 (Final data collection date for primary outcome measure)
Familial Amyloidotic Cardiomyopathy (FAC)


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects Suspected of Having Familial Amyloidotic Cardiomyopathy (FAC)

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02252653

  Show 58 Study Locations
Sponsors and Collaborators
Alnylam Pharmaceuticals
Study Director: Jared Gollob, MD Alnylam Pharmaceuticals
  More Information

Responsible Party: Alnylam Pharmaceuticals Identifier: NCT02252653     History of Changes
Other Study ID Numbers: ALN-TTR-NT-002
Study First Received: September 22, 2014
Last Updated: July 19, 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by Alnylam Pharmaceuticals:
Heart Failure
Transthyretin (TTR)

Additional relevant MeSH terms:
Heart Diseases
Cardiovascular Diseases
Proteostasis Deficiencies
Metabolic Diseases processed this record on September 20, 2017