Predictive Factors and Consequences of Myocardial Fibrosis in Hypertrophic Cardiomyopathy (HCM)

September 8, 2021 updated by: Nantes University Hospital
Fibrosis, myocardial deformation and biomarkers in hypertrophic cardiomyopathy (HCM)

Study Overview

Status

Recruiting

Conditions

Detailed Description

Hypertrophic cardiomyopathy (HCM) is a rare genetic disease (1), whose phenotypic expression is found in less than 1/1000 people, mainly linked to a mutation of a protein of the sarcomere (14 genes and 400 mutations identified nowadays). HCM occurs in about 50% of cases in young adults under the age of 30 years. Progress in the identification of the responsible mutation does not have allowed significant advances for the clinical management and evaluation of the prognosis of patients with HCM. In fact, the link between genotype and phenotype is poor in the HCM, so that identification of the mutation in approximately 60% of patients does not properly characterize the disease and its evolution. It is therefore necessary to identify new markers to better characterize HCM patients. Myocardial fibrosis could be a severity marker of the HCM but its consequences and determinants are little known or unknown.

The objective of this work is to identify the determinants and consequences of myocardial fibrosis in HCM, particularly the relationship between fibrosis and left ventricular dysfunction assessed by the analysis of myocardial deformation and between fibrosis and heart failure. The study of fibrosis, which concerns 30 to 70% of patients and replace 1 to 70% of the myocardial tissue, is made possible in vivo by analysis of delayed enhancement gadolinium in MRI. This work aims to study the relationship between myocardial fibrosis, heart function assessed by myocardial deformation, heart failure, and biological profile (proteomics) of patients at rest and after exertion.

This study is an observational research. Indeed, all examinations are done as part of usual care patients. Only additional tubes of blood are collected in the initial biological assessment.

Study Type

Observational

Enrollment (Anticipated)

115

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Nantes, France, 44093
        • Recruiting
        • Nantes University Hospital
        • Contact:
        • Principal Investigator:
          • Thierry Le Tourneau, PU-PH
        • Sub-Investigator:
          • Jean-Noel Trochu, PU-PH
        • Sub-Investigator:
          • Dominique Crochet, PU-PH
        • Sub-Investigator:
          • Karine Warin, PH
        • Sub-Investigator:
          • Nicolas Piriou, PH
        • Sub-Investigator:
          • Vincent Probst, PU-PH
        • Sub-Investigator:
          • Patrice Guerin, PU-PH
        • Sub-Investigator:
          • Gilles Lande, PH
        • Sub-Investigator:
          • Aude Solnon, PH
        • Sub-Investigator:
          • Jean-Pierre Gueffet, PH

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients of both sex over 16 year-old with HCM

Description

Inclusion Criteria:

  • Patients with known HCM or recently discovered with a wall thickness greater than or equal to15 mm without family background or> 13 mm in an HCM family context in the absence of other causes found capable of producing such a degree of hypertrophy
  • HCM apparently linked to a mutation of a protein of the sarcomere (identified mutation or absence of other causes of hypertrophy found when the mutation search was not performed or was unsuccessful)
  • Control subjects will be patients greater than or equal to 18 years without known cardiovascular disease or that may affect their ability to function, addressed to achieve a stress echocardiography for assessment of atypical symptoms, with a low pretest probability of coronary artery disease, and accepting blood sample before and after exercise. They do not realize Holter ECG or cardiac MRI as part of the study.

Exclusion Criteria:

  • Refusal of the patient
  • Age < 16 years old
  • Valvulopathy associated significant (grade 3 or 4 regurgitation, or severe stenosis) other than mitral insufficiency
  • Defibrillator, pacemaker, or other cons-indication or intolerance to achieving MRI
  • Unable to receive clear information (patient's intellectual default)
  • Under protective measure of justice

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
patients with obstructive HCM
patients with HCM (obstructive or no obstructive)
controls
patients without HCM
patients with non obstructive HCM

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
measurement of the overall longitudinal myocardial strain (in 2D strain)
Time Frame: day 90
day 90

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
global myocardial longitudinal deformation (three-dimensional)
Time Frame: day 90
day 90
Transforming growth factor (TGF) blood dosage
Time Frame: at year 3
at year 3
Bone morphogenetic protein 2 (BMP2) blood dosage
Time Frame: at year 3
at year 3
Periostin blood dosage
Time Frame: at year 3
at year 3
Heart Failure Symptoms evaluation
Time Frame: day 90
New York Heart Association (NYHA) stage, presence of congestive signs according to the Framingham Heart Study, functional capacity
day 90
type of heart failure
Time Frame: day 90
sub aortic obstruction if gradient rest or effort greater than or equal to 30 mmHg, left ventricle (LV) systolic dysfunction assessed on the ejection fraction (EF) less than or equal to 50%, restrictive heart disease
day 90

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Nantes University Hospital

Collaborators

Institut National de la Santé Et de la Recherche Médicale, France
Rennes University Hospital
University Hospital, Lille

Investigators

  • Principal Investigator: Philippe Mabo, PU-PH, Rennes University Hospital
  • Principal Investigator: Erwan Donal, McU-PH, Rennes University Hospital
  • Principal Investigator: Pascal de Groote, PH, Lille University Hospital
  • Principal Investigator: Anne-Sophie Polge, PH, Lille University Hospital
  • Principal Investigator: Marjorie Richardson, PH, Lille University Hospital
  • Principal Investigator: Nicolas Lamblin, PH, Lille University Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 1, 2014

Primary Completion (Anticipated)

December 1, 2021

Study Completion (Anticipated)

December 1, 2021

Study Registration Dates

First Submitted

March 25, 2013

First Submitted That Met QC Criteria

October 3, 2016

First Posted (Estimate)

October 4, 2016

Study Record Updates

Last Update Posted (Actual)

September 9, 2021

Last Update Submitted That Met QC Criteria

September 8, 2021

Last Verified

September 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Prog/11/35

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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