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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

Tracking Information
First Submitted Date April 12, 2017
First Posted Date April 21, 2017
Last Update Posted Date April 21, 2017
Actual Study Start Date October 18, 2016
Estimated Primary Completion Date April 18, 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: April 18, 2017)
  • Cardiovascular symptoms [ Time Frame: Baseline ]
    Dyspnea, angor, syncope and lipothymia, palpitations, heart failure signs
  • Metabolic exercise test marker : poor blood pressure adaptation to exercise [ Time Frame: Baseline ]
  • Metabolic exercise test marker: max level achieved [ Time Frame: Baseline ]
  • Metabolic exercise test marker : percentage of theoretical maximal heart rate [ Time Frame: Baseline ]
  • Metabolic exercise test marker : peak of Oxygen uptake (VO2) [ Time Frame: Baseline ]
  • Metabolic exercise test marker : percentage of expected peak VO2 [ Time Frame: Baseline ]
  • Metabolic exercise test marker : Expiratory volume / carbon dioxide production (VE/VCO2) [ Time Frame: Baseline ]
  • Biological marker : BNP elevation [ Time Frame: Baseline ]
  • Electrical markers at ECG and Holter ECG [ Time Frame: Baseline ]
    Measure of conduction troubles; supra-ventricular and ventricular arrhythmias.
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title 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.
Official Title Not Provided
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)?
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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.

Condition Fabry Disease
Intervention
  • 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
  • Device: MRI without contrast agent injection
    Without injection of gadolinium
  • Diagnostic Test: Echocardiography at M24
Study Groups/Cohorts
  • Patients group
    35 patients
    Interventions:
    • Diagnostic Test: Echocardiography at T0
    • Diagnostic Test: Exercise test
    • Biological: Biological assays
    • Device: MRI with contrast agent injection
    • Diagnostic Test: Echocardiography at M24
  • Healthy volunteers
    20 healthy volunteers
    Interventions:
    • Diagnostic Test: Echocardiography at T0
    • Device: MRI without contrast agent injection
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: April 18, 2017)
55
Original Estimated Enrollment Same as current
Estimated Study Completion Date April 18, 2020
Estimated Primary Completion Date April 18, 2020   (Final data collection date for primary outcome measure)
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.

Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
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
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT03123523
Other Study ID Numbers CHUBX 2016/08
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party University Hospital, Bordeaux
Study Sponsor University Hospital, Bordeaux
Collaborators Not Provided
Investigators Not Provided
PRS Account University Hospital, Bordeaux
Verification Date April 2017