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.
Amyloidosis in Transthyretin (TTR)
Hypertrophic Cardiomyopathy (HCM)
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy|
- Number of ATTRm mutations [ Time Frame: 1 day ] [ Designated as safety issue: No ]Number of ATTRm mutations detected in a large population of patients with HCM.
- Genotype and clinical factors [ Time Frame: 1 day ] [ Designated as safety issue: No ]Identify clinical factors associated with biological and echocardiographic different HCM genotypes.
Biospecimen Retention: Samples With DNA
10 mL of whole blood in EDTA tube
|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)|
In the population of Hypertrophic Cardiomyopathy patients, patients suffering from a cardiac amyloidosis
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01623245
|Henri Mondor Hospital|
|Creteil, France, 94000|
|Principal Investigator:||Thibaud DAMY||AP-HP|