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

July 19, 2016 updated by: Alnylam Pharmaceuticals

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

Study Overview

Status

Completed

Conditions

Familial Amyloidotic Cardiomyopathy (FAC)

Study Type

Observational

Enrollment (Actual)

1010

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Belgium
- - Anderlecht, Belgium
    - Clinical Trial Site
  - Brussels, Belgium, 1020
    - Clinical Trial Site
  - Hasselt, Belgium
    - Clinical Trial Site
  - Roeselare, Belgium
    - Clinical Trial Site
Brazil
- - Blumenau, Brazil
    - Clinical Trial Site
France
- - Bordeaux, France
    - Clinical Trial Site
  - Toulouse Cedex, France
    - Clinical Trial Site
  - Vandoeuvre-lès-Nancy, France
    - Clinical Trial Site
Spain
- - Barcelona, Spain, 8003
    - Clinical Trial Site
  - Barcelona, Spain, 8907
    - Clinical Trial Site
  - Madrid, Spain
    - Clinical Trial Site
  - Seville, Spain
    - Clinical Trial Site
United Kingdom
- - Cardiff, United Kingdom
    - Clinical Trial Site
  - London, United Kingdom, SW17 0QT
    - Clinical Trial Site
  - London, United Kingdom, NW1 2BU
    - Clinical Trial Site
United States
- Arkansas
  - Little Rock, Arkansas, United States
    - Clinical Trial Site
- California
  - Bakersfield, California, United States
    - Clinical Trial Site
  - La Mesa, California, United States
    - Clinical Trial Site
  - Los Angeles, California, United States, 90095
    - Clinical Trial Site
  - Los Angeles, California, United States, 90073
    - Clinical Trial Site
  - San Francisco, California, United States
    - Clinical Trial Site
  - Torrance, California, United States
    - Clinical Trial Site
- Colorado
  - Aurora, Colorado, United States
    - Clinical Trial Site
- District of Columbia
  - Washington, District of Columbia, United States, 20422
    - Clinical Trial Site
  - Washington, District of Columbia, United States, 20010
    - Clinical Trial Site
  - Washington, District of Columbia, United States, 20052
    - Clinical Trial Site
- Florida
  - Tampa, Florida, United States
    - Clinical Trial Site
- Georgia
  - Athens, Georgia, United States
    - Clinical Trial Site
  - Atlanta, Georgia, United States, 30303
    - Clinical Trial Site
  - Atlanta, Georgia, United States, 30310
    - Clinical Trial Site
  - Macon, Georgia, United States
    - Clinical Trial Site
- Illinois
  - Chicago, Illinois, United States, 60611
    - Clinical Trial Site
  - Chicago, Illinois, United States, 60637
    - Clinical Trial Site
  - Chicago, Illinois, United States, 60612
    - Clinical Trial Site
- Indiana
  - Merrillville, Indiana, United States
    - Clinical Trial Site
- Maryland
  - Baltimore, Maryland, United States
    - Clinical Trial Site
- Massachusetts
  - Boston, Massachusetts, United States
    - Clinical Trial Site
  - Springfield, Massachusetts, United States
    - Clinical Trial Site
- Michigan
  - Detroit, Michigan, United States
    - Clinical Trial Site
- Mississippi
  - Jackson, Mississippi, United States
    - Clinical Trial Site
- Missouri
  - St. Louis, Missouri, United States
    - Clinical Trial Site
- New Jersey
  - Camden, New Jersey, United States
    - Clinical Trial Site
- New York
  - Bronx, New York, United States
    - Clinical Trial Site
  - Rochester, New York, United States
    - Clinical Trial Site
  - Rosedale, New York, United States
    - Clinical Trial Site
  - Williamsville, New York, United States
    - Clinical Trial Site
- North Carolina
  - Durham, North Carolina, United States
    - Clinical Trial Site
- Ohio
  - Cleveland, Ohio, United States
    - Clinical Trial Site
- Pennsylvania
  - Philadelphia, Pennsylvania, United States, 19104
    - Clinical Trial Site
  - Philadelphia, Pennsylvania, United States, 19102
    - Clinical Trial Site
  - Pittsburgh, Pennsylvania, United States
    - Clinical Trial Site
- South Carolina
  - Charleston, South Carolina, United States
    - Clinical Trial Site
- Texas
  - Fort Worth, Texas, United States
    - Clinical Trial Site
  - Plano, Texas, United States
    - Clinical Trial Site
- Virginia
  - Falls Church, Virginia, United States
    - Clinical Trial Site
  - Norfolk, Virginia, United States
    - Clinical Trial Site
  - Richmond, Virginia, United States, 23298
    - Clinical Trial Site
  - Richmond, Virginia, United States, 23249
    - Clinical Trial Site

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Subjects Suspected of Having Familial Amyloidotic Cardiomyopathy (FAC)

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Number of groups / cohorts

Cohorts and Interventions

Group / Cohort
Familial Amyloidotic Cardiomyopathy (FAC)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Proportion of patients with of Transthyretin (TTR) mutations Time Frame: Baseline	Blood will be sequenced for the presence of TTR gene mutations	Baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	Day 30
Quantification of biomarkers of cardiac function in serum Time Frame: Day 30	Biomarkers that assess cardiac function will be quantified from serum	Day 30
Measurement of echocardiogram parameters Time Frame: Day 30	Cardiac structure and function will be measured by echocardiogram	Day 30
New York Heart Association (NYHA) Functional Classification Time Frame: Day 30	NYHA Functional Classification will be determined	Day 30
Results from 6-Minute Walk Test Time Frame: Day 30	Total distance walked in 6 minutes will be measured	Day 30

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Alnylam Pharmaceuticals

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2014

Primary Completion (Actual)

January 1, 2016

Study Completion (Actual)

March 1, 2016

Study Registration Dates

First Submitted

September 22, 2014

First Submitted That Met QC Criteria

September 26, 2014

First Posted (Estimate)

September 30, 2014

Study Record Updates

Last Update Posted (Estimate)

July 20, 2016

Last Update Submitted That Met QC Criteria

July 19, 2016

Last Verified

July 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

ALN-TTR-NT-002

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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

Study Overview

Status

Conditions

Study Type

Enrollment (Actual)

Contacts and Locations

Study Locations

Participation Criteria

Eligibility Criteria

Ages Eligible for Study

Accepts Healthy Volunteers

Genders Eligible for Study

Sampling Method

Study Population

Description

Study Plan

How is the study designed?

Design Details

Number of groups / cohorts

Cohorts and Interventions

Group / Cohort

What is the study measuring?

Primary Outcome Measures

Outcome Measure

Measure Description

Time Frame

Secondary Outcome Measures

Outcome Measure

Measure Description

Time Frame

Collaborators and Investigators

Sponsor

Study record dates

Study Major Dates

Study Start

Primary Completion (Actual)

Study Completion (Actual)

Study Registration Dates

First Submitted

First Submitted That Met QC Criteria

First Posted (Estimate)

Study Record Updates

Last Update Posted (Estimate)

Last Update Submitted That Met QC Criteria

Last Verified

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Clinical Trials on Familial Amyloidotic Cardiomyopathy (FAC)

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