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Completed

NCT Number: NCT02252653

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

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

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Key information

Conditions

Familial Amyloidotic Cardiomyopathy (FAC) Alzheimer Disease Brain Diseases Cardiomyopathies Cardiovascular Diseases Central Nervous System Diseases Dementia Heart Diseases Heart Failure Mental Disorders Nervous System Diseases Neurocognitive Disorders Neurodegenerative Diseases Tauopathies

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Clinical Trial Site, Anderlecht, Belgium

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Proportion of patients with of Transthyretin (TTR) mutations

    Time frame: Baseline

    Blood will be sequenced for the presence of TTR gene mutations

Secondary outcomes

  1. 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

  2. Quantification of biomarkers of cardiac function in serum

    Time frame: Day 30

    Biomarkers that assess cardiac function will be quantified from serum

  3. Measurement of echocardiogram parameters

    Time frame: Day 30

    Cardiac structure and function will be measured by echocardiogram

  4. New York Heart Association (NYHA) Functional Classification

    Time frame: Day 30

    NYHA Functional Classification will be determined

  5. Results from 6-Minute Walk Test

    Time frame: Day 30

    Total distance walked in 6 minutes will be measured

Sponsors and collaborators

Lead sponsor

Alnylam Pharmaceuticals

Industry

Registry information

Important dates

Study start
2014
Primary completion
2016
Study completion
2016
First posted
Sep 30, 2014
Registry last updated
Jul 20, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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