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.

NCT03123523 — Unknown, 55 participants, University Hospital, Bordeaux

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Registry	NCT03123523, acronym FABRY-Image
Status	Unknown
Study type	Observational
Enrollment	55 (Estimated)
Sponsor	University Hospital, Bordeaux (Other)
Conditions	Fabry Disease
Interventions	Echocardiography at T0, Exercise test, Biological assays, MRI with contrast agent injection, MRI without contrast agent injection, Echocardiography at M24 (Diagnostic test, biological, device)
Dates	start 2016-10-18, primary completion 2020-04-18 (estimated), completion 2020-04-18 (estimated), first posted 2017-04-21, last updated 2017-04-21
Locations	1 site in France

-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)?

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+Arms and interventions

Arm	Type	Interventions	Description
Patients group		Diagnostic Test: Echocardiography at T0; Diagnostic Test: Exercise test; Biological: Biological assays; Device: MRI with contrast agent injection; Diagnostic Test: Echocardiography at M24	35 patients
Healthy volunteers		Diagnostic Test: Echocardiography at T0; Device: MRI without contrast agent injection	20 healthy volunteers

Echocardiography at T0 (Diagnostic test)
Exercise test (Diagnostic test)
Biological assays (Biological): Creatinin, hematocrit and BNP assays
MRI with contrast agent injection (Device): With injection of gadolinium
MRI without contrast agent injection (Device): Without injection of gadolinium
Echocardiography at M24 (Diagnostic test)

+Outcome measures

Primary outcomes

Cardiovascular symptoms [Baseline]: Dyspnea, angor, syncope and lipothymia, palpitations, heart failure signs
Metabolic exercise test marker : poor blood pressure adaptation to exercise [Baseline]
Metabolic exercise test marker: max level achieved [Baseline]
Metabolic exercise test marker : percentage of theoretical maximal heart rate [Baseline]
Metabolic exercise test marker : peak of Oxygen uptake (VO2) [Baseline]
Metabolic exercise test marker : percentage of expected peak VO2 [Baseline]
Metabolic exercise test marker : Expiratory volume / carbon dioxide production (VE/VCO2) [Baseline]
Biological marker : BNP elevation [Baseline]
Electrical markers at ECG and Holter ECG [Baseline]: Measure of conduction troubles; supra-ventricular and ventricular arrhythmias.

+Eligibility

Sex: All, ages: 18 Years to any, accepts healthy volunteers

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.

+Locations (1)

Facility	City	Country	Status
CHU de Bordeaux	Pessac	France	Recruiting

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