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Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy (Amylo)

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Thibaud Damy, French Society of Cardiology Identifier:
First received: June 13, 2012
Last updated: July 8, 2014
Last verified: July 2014
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.

Cardiac Amyloidosis
Amyloidosis in Transthyretin (TTR)
Hypertrophic Cardiomyopathy (HCM)

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy

Resource links provided by NLM:

Further study details as provided by French Cardiology Society:

Primary Outcome Measures:
  • Number of ATTRm mutations [ Time Frame: 1 day ]
    Number of ATTRm mutations detected in a large population of patients with HCM.

Secondary Outcome Measures:
  • Genotype and clinical factors [ Time Frame: 1 day ]
    Identify clinical factors associated with biological and echocardiographic different HCM genotypes.

Biospecimen Retention:   Samples With DNA
10 mL of whole blood in EDTA tube

Estimated Enrollment: 260
Study Start Date: June 2012
Estimated Study Completion Date: June 2017
Estimated Primary Completion Date: June 2016 (Final data collection date for primary outcome measure)
Hypertrophic Cardiomyopathy
In the population of Hypertrophic Cardiomyopathy patients, patients suffering from a cardiac amyloidosis

Detailed Description:

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.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The study population is that of patients with hypertrophic cardiomyopathy in France whose origin has not yet been determined.

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)
  Contacts and Locations
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Please refer to this study by its identifier: NCT01623245

Henri Mondor Hospital
Creteil, France, 94000
Sponsors and Collaborators
Thibaud Damy
Principal Investigator: Thibaud DAMY Assistance Publique - Hôpitaux de Paris
  More Information


Responsible Party: Thibaud Damy, Assistant Professor, French Society of Cardiology Identifier: NCT01623245     History of Changes
Other Study ID Numbers: 11714
Study First Received: June 13, 2012
Last Updated: July 8, 2014

Additional relevant MeSH terms:
Cardiomyopathy, Hypertrophic
Amyloid Neuropathies, Familial
Heart Diseases
Cardiovascular Diseases
Proteostasis Deficiencies
Metabolic Diseases
Pathological Conditions, Anatomical
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Heart Valve Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Amyloid Neuropathies
Peripheral Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn
Amyloidosis, Familial
Metabolism, Inborn Errors processed this record on April 28, 2017