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Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy (Amylo)
The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified July 2014 by Thibaud Damy, French Society of Cardiology.
Recruitment status was: Active, not recruiting
Recruitment status was: Active, not recruiting
Sponsor:
Thibaud Damy
Information provided by (Responsible Party):
Thibaud Damy, French Society of Cardiology
ClinicalTrials.gov Identifier:
NCT01623245
First received: June 13, 2012
Last updated: July 8, 2014
Last verified: July 2014
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Purpose
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.
| Condition |
|---|
| 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:
Genetics Home Reference related topics:
familial hypertrophic cardiomyopathy
transthyretin amyloidosis
Genetic and Rare Diseases Information Center resources:
Familial Transthyretin Amyloidosis
Amyloid Neuropathy
Aortic Valve Stenosis
U.S. FDA Resources
Further study details as provided by Thibaud Damy, French Society of Cardiology:
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) |
| Groups/Cohorts |
|---|
|
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.
Eligibility| 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.
Criteria
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 ClinicalTrials.gov identifier: NCT01623245
Please refer to this study by its ClinicalTrials.gov identifier: NCT01623245
Locations
| France | |
| Henri Mondor Hospital | |
| Creteil, France, 94000 | |
Sponsors and Collaborators
Thibaud Damy
Investigators
| Principal Investigator: | Thibaud DAMY | Assistance Publique - Hôpitaux de Paris |
More Information
Publications:
| Responsible Party: | Thibaud Damy, Assistant Professor, French Society of Cardiology |
| ClinicalTrials.gov 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:
|
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 |
ClinicalTrials.gov processed this record on August 16, 2017