Clinical trial NCT02252653: 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
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Familial Amyloidotic Cardiomyopathy (FAC)
Keywords: Cardiomyopathy
Heart Failure
FAC
Amyloid
Transthyretin (TTR)
Lead sponsor: Alnylam Pharmaceuticals
Sponsor class: INDUSTRY
First posted: 2014-09-30
Enrollment: 1010
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Subjects Suspected of Having Familial Amyloidotic Cardiomyopathy (FAC)

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


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

Primary outcomes:
measure: Proportion of patients with of Transthyretin (TTR) mutations
timeFrame: Baseline
Secondary outcomes:
measure: Assessment of the presence of amyloid in tissue
timeFrame: Day 30
measure: Quantification of biomarkers of cardiac function in serum
timeFrame: Day 30
measure: Measurement of echocardiogram parameters
timeFrame: Day 30
measure: New York Heart Association (NYHA) Functional Classification
timeFrame: Day 30
measure: Results from 6-Minute Walk Test
timeFrame: Day 30
Other outcomes:
Locations:
city: Little Rock
country: United States
facility: Clinical Trial Site
state: Arkansas
city: Bakersfield
country: United States
facility: Clinical Trial Site
state: California
city: La Mesa
country: United States
facility: Clinical Trial Site
state: California
city: Los Angeles
country: United States
facility: Clinical Trial Site
state: California
city: Los Angeles
country: United States
facility: Clinical Trial Site
state: California
city: San Francisco
country: United States
facility: Clinical Trial Site
state: California
city: Torrance
country: United States
facility: Clinical Trial Site
state: California
city: Aurora
country: United States
facility: Clinical Trial Site
state: Colorado
city: Washington
country: United States
facility: Clinical Trial Site
state: District of Columbia
city: Washington
country: United States
facility: Clinical Trial Site
state: District of Columbia
city: Washington
country: United States
facility: Clinical Trial Site
state: District of Columbia
city: Tampa
country: United States
facility: Clinical Trial Site
state: Florida
city: Athens
country: United States
facility: Clinical Trial Site
state: Georgia
city: Atlanta
country: United States
facility: Clinical Trial Site
state: Georgia
city: Atlanta
country: United States
facility: Clinical Trial Site
state: Georgia
city: Macon
country: United States
facility: Clinical Trial Site
state: Georgia
city: Chicago
country: United States
facility: Clinical Trial Site
state: Illinois
city: Chicago
country: United States
facility: Clinical Trial Site
state: Illinois
city: Chicago
country: United States
facility: Clinical Trial Site
state: Illinois
city: Merrillville
country: United States
facility: Clinical Trial Site
state: Indiana
city: Baltimore
country: United States
facility: Clinical Trial Site
state: Maryland
city: Boston
country: United States
facility: Clinical Trial Site
state: Massachusetts
city: Springfield
country: United States
facility: Clinical Trial Site
state: Massachusetts
city: Detroit
country: United States
facility: Clinical Trial Site
state: Michigan
city: Jackson
country: United States
facility: Clinical Trial Site
state: Mississippi
city: St. Louis
country: United States
facility: Clinical Trial Site
state: Missouri
city: Camden
country: United States
facility: Clinical Trial Site
state: New Jersey
city: Bronx
country: United States
facility: Clinical Trial Site
state: New York
city: Rochester
country: United States
facility: Clinical Trial Site
state: New York
city: Rosedale
country: United States
facility: Clinical Trial Site
state: New York
city: Williamsville
country: United States
facility: Clinical Trial Site
state: New York
city: Durham
country: United States
facility: Clinical Trial Site
state: North Carolina
city: Cleveland
country: United States
facility: Clinical Trial Site
state: Ohio
city: Philadelphia
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Philadelphia
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Pittsburgh
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Charleston
country: United States
facility: Clinical Trial Site
state: South Carolina
city: Fort Worth
country: United States
facility: Clinical Trial Site
state: Texas
city: Plano
country: United States
facility: Clinical Trial Site
state: Texas
city: Falls Church
country: United States
facility: Clinical Trial Site
state: Virginia
city: Norfolk
country: United States
facility: Clinical Trial Site
state: Virginia
city: Richmond
country: United States
facility: Clinical Trial Site
state: Virginia
city: Richmond
country: United States
facility: Clinical Trial Site
state: Virginia
city: Anderlecht
country: Belgium
facility: Clinical Trial Site
city: Brussels
country: Belgium
facility: Clinical Trial Site
city: Hasselt
country: Belgium
facility: Clinical Trial Site
city: Roeselare
country: Belgium
facility: Clinical Trial Site
city: Blumenau
country: Brazil
facility: Clinical Trial Site
city: Bordeaux
country: France
facility: Clinical Trial Site
city: Toulouse Cedex
country: France
facility: Clinical Trial Site
city: Vandoeuvre-lès-Nancy
country: France
facility: Clinical Trial Site
city: Barcelona
country: Spain
facility: Clinical Trial Site
city: Barcelona
country: Spain
facility: Clinical Trial Site
city: Madrid
country: Spain
facility: Clinical Trial Site
city: Seville
country: Spain
facility: Clinical Trial Site
city: Cardiff
country: United Kingdom
facility: Clinical Trial Site
city: London
country: United Kingdom
facility: Clinical Trial Site
city: London
country: United Kingdom
facility: Clinical Trial Site
Study officials:
affiliation: Alnylam Pharmaceuticals
name: Jared Gollob, MD
role: STUDY_DIRECTOR
References: