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.

Fabry Disease Clinical Trial

— FABRY-Image  

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03123523
• Other study ID #: CHUBX 2016/08
• Status: Recruiting
• Phase: N/A
• First received: April 12, 2017
• Last updated: April 18, 2017
• Start date: October 18, 2016
• Est. completion date: April 18, 2020

Study information

• Verified date: April 2017
• Source: University Hospital, Bordeaux
• Contact: Réant patricia, MD
• Phone: (0)5 57 65 64 85
• Email: patricia.reant[@]chu-bordeaux.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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)?

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 55
• Est. completion date: April 18, 2020
• Est. primary completion date: April 18, 2020
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Fabry Disease

Intervention

Diagnostic Test:
• Echocardiography at T0

• Exercise test

Biological:
• Biological assays
Creatinin, hematocrit and BNP assays

Device:
• MRI with contrast agent injection
With injection of gadolinium
• MRI without contrast agent injection
Without injection of gadolinium

Diagnostic Test:
• Echocardiography at M24

Locations

Country	Name	City	State
France	CHU de Bordeaux	Pessac

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Bordeaux

Country where clinical trial is conducted

France, 

Outcome

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