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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02252653
Recruitment Status : Completed
First Posted : September 30, 2014
Last Update Posted : July 20, 2016
Sponsor:
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
Change History
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

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
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
Removed Location Countries  
 
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