Hypertrophic Cardiomyopathy Clinical Trial
Official title:
New Diagnostic Strategy in Hypertrophic Cardiomyopathy Including a New Genetic Approach: A Multicentric Prospective Study
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease characterized by
unexplained hypertrophy of the left ventricle, often with predominant involvement of the
interventricular septum, and characterized by myocyte disarray and fibrosis.
HCM is the most common familial heart disease with strong genetic heterogeneity,
demonstrated over the past 20 years. Mutations in 11 or more genes encoding proteins of the
cardiac sarcomere are responsible for (or associated with) HCM.
However, 30-40% of sporadic and familial cases of HCM are still genetically unlabelled. In
addition, secondary HCM caused by Fabry's disease or amyloidosis, may mimic primary HCM and
may be under diagnosed. This may result in a delay in accurate diagnosis and instauration of
specific treatment, with possible clinical consequences for the patients.
For these reasons, we decided to apply a new diagnostic strategy for patients with newly
diagnosed HCM, including the whole exome sequencing (WES) technology.
If correctly applied, this new technology has the potential to strongly reduce the
diagnostic wavering leading to earlier diagnosis and genetic counseling in sarcomeric HCM
and rarer forms of secondary HCM including Fabry's disease and amyloidosis, and also
specific therapy set-up in secondary forms of HCM. It should also allow identifying new
genes responsible for HCM.
Background : Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease
characterized by unexplained hypertrophy of the left ventricle, often with predominant
involvement of the interventricular septum, and characterized by myocyte disarray and
fibrosis.
HCM is the most common familial heart disease with strong genetic heterogeneity,
demonstrated over the past 20 years. Mutations in 11 or more genes encoding proteins of the
cardiac sarcomere are responsible for (or associated with) HCM.
However, 30-40% of sporadic and familial cases of HCM are still genetically unlabelled. In
addition, secondary HCM caused by Fabry's disease or amyloidosis, may mimic primary HCM and
may be under diagnosed. This may result in a delay in accurate diagnosis and instauration of
specific treatment, with possible clinical consequences for the patients.
Objectives : For these reasons, we decided to apply a new diagnostic strategy for patients
with newly diagnosed HCM, including the whole exome sequencing (WES) technology.
1. Main objective: to evaluate the additional diagnostic value of the new proposed
strategy for the identification of a specific cause of HCM as compared with
conventional diagnostic strategy
2. Secondary objectives:
To evaluate the frequency of secondary HCM (Fabry's disease, amyloidosis, mitochondrial
cardiomyopathies, and others) observed by this systematic screening in a population of newly
diagnosed HCM
Perspectives: If correctly applied, this new technology has the potential to strongly reduce
the diagnostic wavering leading to earlier diagnosis and genetic counseling in sarcomeric
HCM and rarer forms of secondary HCM including Fabry's disease and amyloidosis, and also
specific therapy set-up in secondary forms of HCM. It should also allow identifying new
genes responsible for HCM.
;
Observational Model: Case-Only, Time Perspective: Prospective
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Terminated |
NCT03249272 -
Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
|
Phase 4 | |
| Recruiting |
NCT03846297 -
Optimisation of Decision Making for Defibrillator Implantation in Hypertrophic Cardiomyopathy
|
||
| Completed |
NCT02806479 -
Hypertrophic Cardiomyopathy Pilot Study
|
||
| Active, not recruiting |
NCT01225978 -
Refining Information Technology Support for Genetics in Medicine
|
N/A | |
| Completed |
NCT00001632 -
Investigation Into the Use of Ultrasound Technique in the Evaluation of Heart Disease
|
N/A | |
| Completed |
NCT00001534 -
Long Term Effects of Enalapril and Losartan on Genetic Heart Disease
|
N/A | |
| Enrolling by invitation |
NCT04050579 -
OPIE in the Thin Interventricular Septum
|
N/A | |
| Completed |
NCT03537183 -
Will Elevated Left Ventricle Filling Pressures Decrease by a Group Exercise Program in Patients With Hypertrophic CardioMyopathy?
|
N/A | |
| Completed |
NCT02590809 -
Hypertrophic Cardiomyopathy Symptom Release by BX1514M
|
Phase 2 | |
| Completed |
NCT00001396 -
Natural History and Results of Dual Chamber (DDD) Pacemaker Therapy of Children With Obstructive Hypertrophic Cardiomyop...
|
Phase 1 | |
| Active, not recruiting |
NCT03723655 -
A Long-Term Safety Extension Study of Mavacamten in Adults Who Have Completed MAVERICK-HCM or EXPLORER-HCM
|
Phase 2/Phase 3 | |
| Completed |
NCT05135871 -
Study Evaluating the Pharmacokinetics of Mavacamten in Healthy Adult Chinese Subjects
|
Phase 1 | |
| Completed |
NCT04129905 -
Assessment of the Relations Between Endothelial and Venous Dysfunctions and Left Ventricular Obstruction in Genetic Hypertrophic Cardiomyopathies
|
N/A | |
| Recruiting |
NCT03061994 -
Metabolomic Study of All-age Cardiomyopathy
|
N/A | |
| Completed |
NCT02234336 -
Assessment of Wall Thickness in Hypertrophic Cardiomyopathy
|
||
| Recruiting |
NCT00221832 -
Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases
|
N/A | |
| Not yet recruiting |
NCT03706001 -
Efficacy of Psychotherapy for Improving Quality of Life in Patients With Hypertrophic Cardiomyopathy and Depression
|
N/A | |
| Recruiting |
NCT06169358 -
Screening Patients With Fabry Disease in Patients With Hypertrophic Cardiomyopathy or Left Ventricular Hypertrophy
|
||
| Not yet recruiting |
NCT04090437 -
HCM-AF Ablation With ACUTUS
|
N/A | |
| Completed |
NCT04402268 -
Efficacy of Risk Assessment for Sudden Cardiac Death in Patients With Hypertrophic Cardiomyopathy
|