New Diagnostic Strategy in Hypertrophic Cardiomyopathy

NCT02520856 | Unknown

• 2 other identifiers: 2014-29RCAPHM14_0358
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Hypertrophic Cardiomyopathy

Outcome Measures

Primary Outcomes (2)

• whole exome sequencing

  12 months

• Classic genetic analysis

  12 months

Study Arms (1)

Hypertrophic cardiomyopathy

All patients with newly diagnosed unexplained HCM will be prospectively included. All patients will undergo both classical genetic analysis and WES technology.

Other: blood sample

Interventions

blood sample OTHER

Hypertrophic cardiomyopathy

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

patients with unexplained Hypertrophic cardiomyopathy will be prospectively included. HCM diagnosis will be based on conventional echocardiographic criteria and will be considered definite in the presence of LV hypertrophy without cavity dilatation and without other cardiac or systemic disease able to produce the magnitude of hypertrophy.

You may qualify if:

• patient with newly diagnosed hypertrophic cardiomyopathy (HCM), based on conventional echocardiographic criteria.The diagnosis of HCM will be considered definite in the presence of left ventricle hypertrophy without cavity dilatation and without other cardiac or systemic disease able to produce the magnitude of hypertrophy.

You may not qualify if:

• Associated cardiac or non cardiac disease known to cause left ventricle hypertrophy (uncontrolled systemic Hypertension, severe aortic stenosis)

Sponsors & Collaborators

• Assistance Publique Hopitaux De Marseille: lead

Study Sites (1)

Assistance Publique Hôpitaux de Marseille

Marseille, 13005, France

RECRUITING

MeSH Terms

Conditions

Cardiomyopathy, Hypertrophic

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Urielle DESALBRES

  Assistance Publique Hôpitaux de Marseille

  STUDY DIRECTOR

Central Study Contacts

Gilbert HABIB, Professor

CONTACT

gilbert.habib@ap-hm.fr

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 5, 2015
• First Posted: August 13, 2015
• Study Start: July 1, 2015
• Primary Completion: July 1, 2017
• Study Completion: July 1, 2018
• Last Updated: August 13, 2015

Record last verified: 2015-08

Locations

FR (1)