Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy

Cardiac amyloidosis are related to the accumulation of fibrillar proteins in the extracellular leading to disruption of the cardiac tissue architecture. Amyloidosis in transthyretin (TTR) are the most common hereditary amyloidosis but remain poorly studied at heart. This is serious and deadly. The prevalence of TTR amyloidosis is probably underestimated in hypertrophic cardiomyopathy (HCM) often of unknown etiology because of the lack of systematic implementation of myocardial biopsy because of their side effects.

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Key information

Conditions

Cardiac Amyloidosis Amyloid Neuropathies Amyloid Neuropathies, Familial Amyloidosis Amyloidosis in Transthyretin (TTR) Amyloidosis, Familial Aortic Stenosis, Subvalvular Aortic Valve Disease Aortic Valve Stenosis Cardiomyopathies Cardiomyopathy, Hypertrophic Cardiovascular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heart Diseases Heart Valve Diseases Heredodegenerative Disorders, Nervous System Hypertrophic Cardiomyopathy (HCM) Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Peripheral Nervous System Diseases Proteostasis Deficiencies

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Henri Mondor Hospital

Créteil, 94000, France

About this study

A systematic screening of TTR mutations within the MHC would diagnose cardiac amyloidosis in TTR and improve the care of patients and their families.

The detection of this disease is important because this disease is fatal and a new treatment to prevent the accumulation of TTR is now available (Tafamidis). This drug has proved effective in stabilizing neurological damage.

Depending on the number of patient with cardiac amyloidosis in TTR detected, the prospect will begin a clinical trial to test the effectiveness of a new treatment to prevent the increase in mass of the left ventricle wall objectified resonance nuclear Magnetic.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

Patients with cardiomyopathy defined by an ultrasound thickness of the left ventricle >= 13 mm if familial form or >= 15 mm if sporadic form.
Patients with a signed consent authorizing the specific blood test for genetic sequencing to look for abnormal TTR gene

Exclusion criteria

Patients with a diagnosis of cardiomyopathy already determined or related already diagnosed.
Significant aortic stenosis (≤ 1 cm ²)

Treatment and study plan

Primary outcomes

Number of ATTRm mutations

Time frame: 1 day

Number of ATTRm mutations detected in a large population of patients with HCM.

Secondary outcomes

Genotype and clinical factors

Time frame: 1 day

Identify clinical factors associated with biological and echocardiographic different HCM genotypes.

Sponsors and collaborators

Lead sponsor

Thibaud Damy

Other

Registry information

Acronym: Amylo

Important dates

Study start: 2012
Primary completion: 2014
Study completion: 2014
First posted: Jun 19, 2012
Registry last updated: Aug 14, 2019

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.

Published trials that share one or more normalized conditions with this study.

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