Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy (Amylo)
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ClinicalTrials.gov Identifier: NCT01623245 |
Recruitment Status
:
Completed
First Posted
: June 19, 2012
Last Update Posted
: November 24, 2017
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Condition or disease |
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Cardiac Amyloidosis Amyloidosis in Transthyretin (TTR) Hypertrophic Cardiomyopathy (HCM) |
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.
Study Type : | Observational |
Actual Enrollment : | 294 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy |
Study Start Date : | June 2012 |
Actual Primary Completion Date : | December 2014 |
Actual Study Completion Date : | December 2014 |

Group/Cohort |
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Hypertrophic Cardiomyopathy
In the population of Hypertrophic Cardiomyopathy patients, patients suffering from a cardiac amyloidosis
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- Number of ATTRm mutations [ Time Frame: 1 day ]Number of ATTRm mutations detected in a large population of patients with HCM.
- Genotype and clinical factors [ Time Frame: 1 day ]Identify clinical factors associated with biological and echocardiographic different HCM genotypes.
Biospecimen Retention: Samples With DNA

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Ages Eligible for Study: | 18 Years and older (Adult, Senior) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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)

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01623245
France | |
Henri Mondor Hospital | |
Creteil, France, 94000 |
Principal Investigator: | Thibaud DAMY | Assistance Publique - Hôpitaux de Paris |
Publications:
Responsible Party: | Thibaud Damy, Assistant Professor, French Society of Cardiology |
ClinicalTrials.gov Identifier: | NCT01623245 History of Changes |
Other Study ID Numbers: |
11714 |
First Posted: | June 19, 2012 Key Record Dates |
Last Update Posted: | November 24, 2017 |
Last Verified: | November 2017 |
Additional relevant MeSH terms:
Amyloidosis Amyloid Neuropathies, Familial Amyloid Neuropathies Amyloidosis, Familial Cardiomyopathies Hypertrophy Cardiomyopathy, Hypertrophic 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 Peripheral Nervous System Diseases Neuromuscular Diseases Genetic Diseases, Inborn Metabolism, Inborn Errors |