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

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

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

Brief Summary: The purpose of this study is to characterize the frequency of TTR mutations in subjects suspected of having cardiac amyloidosis

Detailed Summary:
Sponsor: Alnylam Pharmaceuticals

Current Primary Outcome: Proportion of patients with of Transthyretin (TTR) mutations [ Time Frame: Baseline ]

Blood will be sequenced for the presence of TTR gene mutations


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • 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


Original Secondary Outcome: Same as current

Information By: Alnylam Pharmaceuticals

Dates:
Date Received: September 22, 2014
Date Started: June 2014
Date Completion:
Last Updated: July 19, 2016
Last Verified: July 2016