Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01623245

Acronym

Amylo

Enrollment

294

Registered

2012-06-19

Start date

2012-06-30

Completion date

2014-12-31

Last updated

2019-08-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

Brief summary

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.

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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)

Design outcomes

Primary

Measure	Time frame	Description
Number of ATTRm mutations	1 day	Number of ATTRm mutations detected in a large population of patients with HCM.

Secondary

Measure	Time frame	Description
Genotype and clinical factors	1 day	Identify clinical factors associated with biological and echocardiographic different HCM genotypes.

Countries

France

Outcome results