Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy

This study is currently recruiting participants.
Verified September 2013 by French Cardiology Society
Information provided by (Responsible Party):
Thibaud Damy, French Society of Cardiology Identifier:
First received: June 13, 2012
Last updated: September 27, 2013
Last verified: September 2013

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 ] [ Designated as safety issue: No ]
    Number of ATTRm mutations detected in a large population of patients with HCM.

Secondary Outcome Measures:
  • 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

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
Genders Eligible for Study:   Both
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
Please refer to this study by its identifier: NCT01623245

Contact: Thibaud DAMY 33(0)144907028
Contact: Genevieve MULAK 33(0)143223333

Henri Mondor Hospital Recruiting
Creteil, France, 94000
Contact: Thibaud DAMY    33(0)144907028   
Contact: Geneviève Mulak    33(0)143223333   
Principal Investigator: Thibaud DAMY         
Sponsors and Collaborators
Thibaud Damy
Principal Investigator: Thibaud DAMY AP-HP
  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: September 27, 2013
Health Authority: France : National Commission on Informatics and Freedoms

Additional relevant MeSH terms:
Cardiomyopathy, Hypertrophic
Proteostasis Deficiencies
Metabolic Diseases
Heart Diseases
Cardiovascular Diseases
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Heart Valve Diseases
Pathological Conditions, Anatomical processed this record on April 17, 2014