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

• ClinicalTrials.gov Identifier: NCT02252653
• Recruitment Status: Completed
• First Posted: September 30, 2014
• Last Update Posted: July 20, 2016
• Sponsor: Alnylam Pharmaceuticals
• Information provided by (Responsible Party): Alnylam Pharmaceuticals

Tracking Information

• First Submitted Date: September 22, 2014
• First Posted Date: September 30, 2014
• Last Update Posted Date: July 20, 2016
• Study Start Date: June 2014
• Actual Primary Completion Date: January 2016 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: September 26, 2014)

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 Measures: Same as current

Current Secondary Outcome Measures (submitted: September 26, 2014)

• 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 Measures: Same as current
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis
• 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 Description: Not Provided
• Study Type: Observational
• Study Design: Observational Model: Cohort; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided

Biospecimen

Retention:   Samples Without DNA

Description:

Blood samples for TTR sequencing and cardiac function biomarkers; abdominal fat-pad aspirate for amyloid presence (optional for TTR positive patients only)

• Sampling Method: Non-Probability Sample
• Study Population: Subjects Suspected of Having Familial Amyloidotic Cardiomyopathy (FAC)
• Condition: Familial Amyloidotic Cardiomyopathy (FAC)
• Intervention: Not Provided
• Study Groups/Cohorts: Familial Amyloidotic Cardiomyopathy (FAC)
• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Completed
• Actual Enrollment (submitted: February 12, 2016): 1010
• Original Estimated Enrollment (submitted: September 26, 2014): 1000
• Actual Study Completion Date: March 2016
• Actual Primary Completion Date: January 2016 (Final data collection date for primary outcome measure)

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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 18 Years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: Belgium, Brazil, France, Spain, United Kingdom, United States

Administrative Information

• NCT Number: NCT02252653
• Other Study ID Numbers: ALN-TTR-NT-002
• Has Data Monitoring Committee: No
• U.S. FDA-regulated Product: Not Provided

IPD Sharing Statement

• Plan to Share IPD: Undecided

• Responsible Party: Alnylam Pharmaceuticals
• Study Sponsor: Alnylam Pharmaceuticals
• Collaborators: Not Provided

Investigators

• Study Director: Jared Gollob, MD; Alnylam Pharmaceuticals

• PRS Account: Alnylam Pharmaceuticals
• Verification Date: July 2016