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)

April 18, 2017 updated by: University Hospital, Bordeaux

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)?

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Unknown

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Anticipated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
55

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

Study Locations

  • France
      • Pessac, France, 33604
        • Recruiting
        • Chu de Bordeaux
        • Contact:
        • Contact:
        • Principal Investigator:
          • Réant Patricia, MD
        • Sub-Investigator:
          • Lafitte Stéphane, MD PhD
        • Sub-Investigator:
          • Reynaud Amélie, MD
        • Sub-Investigator:
          • Cornolle Claire, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years and older (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
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

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Cardiovascular symptoms
Time Frame: Baseline
Dyspnea, angor, syncope and lipothymia, palpitations, heart failure signs
Baseline
Metabolic exercise test marker : poor blood pressure adaptation to exercise
Time Frame: Baseline
Baseline
Metabolic exercise test marker: max level achieved
Time Frame: Baseline
Baseline
Metabolic exercise test marker : percentage of theoretical maximal heart rate
Time Frame: Baseline
Baseline
Metabolic exercise test marker : peak of Oxygen uptake (VO2)
Time Frame: Baseline
Baseline
Metabolic exercise test marker : percentage of expected peak VO2
Time Frame: Baseline
Baseline
Metabolic exercise test marker : Expiratory volume / carbon dioxide production (VE/VCO2)
Time Frame: Baseline
Baseline
Biological marker : BNP elevation
Time Frame: Baseline
Baseline
Electrical markers at ECG and Holter ECG
Time Frame: Baseline
Measure of conduction troubles; supra-ventricular and ventricular arrhythmias.
Baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
University Hospital, Bordeaux

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
October 18, 2016

Primary Completion (ANTICIPATED)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
April 18, 2020

Study Completion (ANTICIPATED)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
April 18, 2020

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
April 12, 2017

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 18, 2017

First Posted (ACTUAL)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
April 21, 2017

Study Record Updates

Last Update Posted (ACTUAL)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
April 21, 2017

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 18, 2017

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
April 1, 2017

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • CHUBX 2016/08

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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