Study of the Relation Between Lipid Myocardial Overload Evaluated by Cardiac Magnetic Resonance Imaging (MRI), Alteration of Longitudinal Myocardial Deformations by Echocardiography, and Clinical Achievements (Functional, Biological and Electrical) in Fabry Disease, and Its Outcomes.

NCT ID: NCT03123523

Last Updated: 2017-04-21

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 55 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-10-18
• Study Completion Date: 2020-04-18

Brief Summary

Anderson-Fabry disease is a genetic lysosomal storage disease, linked to chromosome X (gene GLA), responsible of enzyme synthesis deficit in α-galactosidase A with intracellular sphingolipids accumulation and multiorganic achievement.

If renal complication is principally responsible of the pejorative evolution of the disease, it may also exist a cardiac achievement, symptomatic or not (heart failure symptoms including dyspnea, conduction abnormalities, supra-ventricular and ventricular arrhythmias), with or without left ventricular hypertrophy (LVH).

Administration of agalsidase-α or ß, a genetic engineering synthetic equivalent of the deficient enzyme, should significantly slow disease evolution indeed reduce LVH.

Some patients with Fabry disease without LVH should present, compared to healthy subjects, indirect early markers of intramyocyte lipid overload:

• in echocardiography, longitudinal myocardial deformation (strain) should be altered while ejection fraction is preserved, and
• in cardiac MRI, T1 mapping should be reduced1. This was also previously demonstrated in Fabry patients with LVH2. However, are these abnormalities of longitudinal deformation in echocardiography and of T1 mapping in MRI correlated to the presence of pejorative cardiac markers (such as clinical and functional tolerances, Brain Natriuretic Peptide (BNP) level and electrical complications)?

Conditions

Fabry Disease

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Patients group

35 patients

Echocardiography at T0

Intervention Type: DIAGNOSTIC_TEST

Exercise test

Intervention Type: DIAGNOSTIC_TEST

Biological assays

Intervention Type: BIOLOGICAL

Creatinin, hematocrit and BNP assays

MRI with contrast agent injection

Intervention Type: DEVICE

With injection of gadolinium

Echocardiography at M24

Intervention Type: DIAGNOSTIC_TEST

Healthy volunteers

20 healthy volunteers

Echocardiography at T0

Intervention Type: DIAGNOSTIC_TEST

MRI without contrast agent injection

Intervention Type: DEVICE

Without injection of gadolinium

Interventions

Echocardiography at T0

Intervention Type: DIAGNOSTIC_TEST

Exercise test

Intervention Type: DIAGNOSTIC_TEST

Biological assays

Creatinin, hematocrit and BNP assays

Intervention Type: BIOLOGICAL

MRI with contrast agent injection

With injection of gadolinium

Intervention Type: DEVICE

MRI without contrast agent injection

Without injection of gadolinium

Intervention Type: DEVICE

Echocardiography at M24

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

Patients group :

• Adults (age ≥18 years), male and female.
• Patients diagnosed genetically having Fabry disease, with or without clinical cardiac symptoms and with different evolution stades of the disease.
• For female in age of procreation, efficient contraception will be required and a negative pregnancy test.
• Oral agreement of the patient after having read information note.
• Patient affiliated to social national Security registry.

Healthy volunteers group:

• Adults (age ≥18 years), male and female.
• Unscathed of cardiovascular pathologies and cardiovascular risk factors.
• For female in age of procreation, efficient contraception will be required and a negative pregnancy test.
• Oral agreement of the patient after having read information note.
• Patient affiliated to social national Security registry.

Exclusion Criteria

For the 2 groups :

• Extracardiac pathology limiting life expectancy <1 year (cancer).
• Pregnant or breastfeeding female.
• Claustrophobia.
• Mechanical prosthetic valve.
• Severe obesity > 140 kg
• Patients with intracardiac device (implantable cardiac defibrillator, pace maker, resynchronisation), surgical clips not MRI compatible, neurosensorial stimulators, cochlear implants, ferromagnetic foreign bodies (ocular, cerebral), neurosurgical derivation valves)
• Impossibility to provide consent or refusal to sign the consent form.

For the patients:

• Previous history of hypersensitivity to gadolinium.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

University Hospital, Bordeaux

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

CHU de Bordeaux

Pessac, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Réant patricia, MD

Role: CONTACT

patricia.reant@chu-bordeaux.fr

(0)5 57 65 64 85 ext. +33

Carpentier Céline

Role: CONTACT

celine.carpentier@chu-bordeaux.fr

(0)5 57 65 61 68 ext. +33

Facility Contacts

Réant Patricia, MD

Role: primary

patricia.reant@chu-bordeaux.fr

(0)5 57 65 64 85 ext. +33

Carpentier Céline

Role: backup

celine.carpentier@chu-bordeaux.fr

(0)5 57 65 61 68 ext. +33

Other Identifiers

CHUBX 2016/08

Identifier Type: -

Identifier Source: org_study_id