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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-Image)

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ClinicalTrials.gov Identifier: NCT03123523
Recruitment Status : Recruiting
First Posted : April 21, 2017
Last Update Posted : April 21, 2017
Sponsor:
Information provided by (Responsible Party):
University Hospital, Bordeaux

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)?

Condition or disease Intervention/treatment
Fabry Disease Diagnostic Test: Echocardiography at T0 Diagnostic Test: Exercise test Biological: Biological assays Device: MRI with contrast agent injection Device: MRI without contrast agent injection Diagnostic Test: Echocardiography at M24

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Study Type : Observational
Estimated Enrollment : 55 participants
Observational Model: Case-Control
Time Perspective: Prospective
Actual Study Start Date : October 18, 2016
Estimated Primary Completion Date : April 18, 2020
Estimated Study Completion Date : April 18, 2020

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
Patients group
35 patients
Diagnostic Test: Echocardiography at T0
Diagnostic Test: Exercise test
Biological: Biological assays
Creatinin, hematocrit and BNP assays

Device: MRI with contrast agent injection
With injection of gadolinium

Diagnostic Test: Echocardiography at M24
Healthy volunteers
20 healthy volunteers
Diagnostic Test: Echocardiography at T0
Device: MRI without contrast agent injection
Without injection of gadolinium




Primary Outcome Measures :
  1. Cardiovascular symptoms [ Time Frame: Baseline ]
    Dyspnea, angor, syncope and lipothymia, palpitations, heart failure signs

  2. Metabolic exercise test marker : poor blood pressure adaptation to exercise [ Time Frame: Baseline ]
  3. Metabolic exercise test marker: max level achieved [ Time Frame: Baseline ]
  4. Metabolic exercise test marker : percentage of theoretical maximal heart rate [ Time Frame: Baseline ]
  5. Metabolic exercise test marker : peak of Oxygen uptake (VO2) [ Time Frame: Baseline ]
  6. Metabolic exercise test marker : percentage of expected peak VO2 [ Time Frame: Baseline ]
  7. Metabolic exercise test marker : Expiratory volume / carbon dioxide production (VE/VCO2) [ Time Frame: Baseline ]
  8. Biological marker : BNP elevation [ Time Frame: Baseline ]
  9. Electrical markers at ECG and Holter ECG [ Time Frame: Baseline ]
    Measure of conduction troubles; supra-ventricular and ventricular arrhythmias.



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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

- The 35 patients will be selected from Dr Réant (Cardiologist) and Dr Rooryck-Thambo's (Genetician) consultations, co-responsible of the Regional Competence Centre in Inherited Cardiomyopathies (Bordeaux, france) and from a medical specialized group following regularly these patients (Dr Valérie de Précigout in Nephrology at Bordeaux Pellegrin Hospital, Pr Cyril Goizet and Pr Didier Lacombe in Genetics at Bordeaux Pellegrin Hospital).

Inclusion will be performed according to current management and follow-up recommendations.

- The 20 healthy volunteers will be recruited form a local database (" HSync Study " of Dr Cornolle). Their consent will be requested at inclusion.

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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03123523


Contacts
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Contact: Réant patricia, MD (0)5 57 65 64 85 ext +33 patricia.reant@chu-bordeaux.fr
Contact: Carpentier Céline (0)5 57 65 61 68 ext +33 celine.carpentier@chu-bordeaux.fr

Locations
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France
CHU de Bordeaux Recruiting
Pessac, France, 33604
Contact: Réant Patricia, MD    (0)5 57 65 64 85 ext +33    patricia.reant@chu-bordeaux.fr   
Contact: Carpentier Céline    (0)5 57 65 61 68 ext +33    celine.carpentier@chu-bordeaux.fr   
Principal Investigator: Réant Patricia, MD         
Sub-Investigator: Lafitte Stéphane, MD PhD         
Sub-Investigator: Reynaud Amélie, MD         
Sub-Investigator: Cornolle Claire, MD         
Sponsors and Collaborators
University Hospital, Bordeaux

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Responsible Party: University Hospital, Bordeaux
ClinicalTrials.gov Identifier: NCT03123523     History of Changes
Other Study ID Numbers: CHUBX 2016/08
First Posted: April 21, 2017    Key Record Dates
Last Update Posted: April 21, 2017
Last Verified: April 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Fabry Disease
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders