Fabry DiseaseFABRY-ImageNCT03123523
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.
An observational study of Fabry Disease, run by University Hospital, Bordeaux at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Echocardiography at T0, Exercise test and Biological assays
- Type of treatment
- Injection or infusion, Medical device
- How many people
- 55 participants
- Where
- 1 siteFrance
- Study dates
- 18 Oct 2016to 18 Apr 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- 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.
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- 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.
Who cannot join
- For the 2 groups :
- Extracardiac pathology limiting life expectancy <1 year (cancer).
- Pregnant or breastfeeding female.
- Claustrophobia.
- Mechanical prosthetic valve.
- Severe obesity > 140 kg
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- 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.
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
CHU de Bordeaux
Pessac, 33604
Réant Patricia, MD, (0)5 57 65 64 85 ext. +33, patricia.reant@chu-bordeaux.fr
Carpentier Céline, (0)5 57 65 61 68 ext. +33, celine.carpentier@chu-bordeaux.fr
About this study
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).
Read more
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)?
- Conditions
- Fabry Disease
- Being tested
- Echocardiography at T0, Exercise test, Biological assays, MRI with contrast agent injection, MRI without contrast agent injection
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Echocardiography at T0Diagnostic test
Exercise testDiagnostic test
Biological assaysBiological
Creatinin, hematocrit and BNP assays
MRI with contrast agent injectionDevice
With injection of gadolinium
MRI without contrast agent injectionDevice
Without injection of gadolinium
Echocardiography at M24Diagnostic test
| Study group | Role | What they receive |
|---|---|---|
| Patients group | 35 patients Receives: 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 Receives: Diagnostic Test: Echocardiography at T0; Device: MRI without contrast agent injection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Cardiovascular symptoms
Dyspnea, angor, syncope and lipothymia, palpitations, heart failure signs
Measured: Baseline
Metabolic exercise test marker : poor blood pressure adaptation to exercise
Measured: Baseline
Metabolic exercise test marker: max level achieved
Measured: Baseline
Metabolic exercise test marker : percentage of theoretical maximal heart rate
Measured: Baseline
Metabolic exercise test marker : peak of Oxygen uptake (VO2)
Measured: Baseline
Metabolic exercise test marker : percentage of expected peak VO2
Measured: Baseline
Metabolic exercise test marker : Expiratory volume / carbon dioxide production (VE/VCO2)
Measured: Baseline
Biological marker : BNP elevation
Measured: Baseline
Electrical markers at ECG and Holter ECG
Measure of conduction troubles; supra-ventricular and ventricular arrhythmias.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Apr 2017
- Study start18 Oct 2016
- Primary completion18 Apr 2020 (estimated)
- Study completion18 Apr 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 55 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03123523
- Sponsor's protocol ID
- CHUBX 2016/08
- Acronym
- FABRY-Image
- Status last verified
- Apr 2017
- First submitted
- 12 Apr 2017
- Last updated
- 21 Apr 2017
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Apr 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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.
- ClinicalTrials.gov ID
- NCT03123523
- Acronym / sponsor ID
- FABRY-Image / CHUBX 2016/08
- Conditions
- Fabry Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 55 participants (estimated)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- 18 Oct 2016 (actual)
- Primary completion
- 18 Apr 2020 (estimated)
- Study completion
- 18 Apr 2020 (estimated)
- First posted
- 21 Apr 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients group | – | Diagnostic Test: Echocardiography at T0, Diagnostic Test: Exercise test, Biological: Biological assays, Device: MRI with contrast agent injection, Diagnostic Test: Echocardiography at M2435 patients |
| Healthy volunteers | – | Diagnostic Test: Echocardiography at T0, Device: MRI without contrast agent injection20 healthy volunteers |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (12 listed)
- 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.
Key exclusion criteria (10 listed)
- Extracardiac pathology limiting life expectancy <1 year (cancer).
- Pregnant or breastfeeding female.
- Claustrophobia.
- Mechanical prosthetic valve.
- Severe obesity > 140 kg
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Echocardiography at T0 | Diagnostic test | Healthy volunteers, Patients group |
| Exercise test | Diagnostic test | Patients group |
| Biological assaysCreatinin, hematocrit and BNP assays | Biological | Patients group |
| MRI with contrast agent injectionWith injection of gadolinium | Device | Patients group |
| MRI without contrast agent injectionWithout injection of gadolinium | Device | Healthy volunteers |
| Echocardiography at M24 | Diagnostic test | Patients group |
Primary outcome
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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Apr 2017.
- Individual participant dataSharing planned: No
Related trials for Fabry Disease
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by University Hospital, Bordeaux at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 12 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 21 Apr 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Réant patricia, MD ((0)5 57 65 64 85 ext. +33, patricia.reant@chu-bordeaux.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cardiovascular symptoms (time frame: Baseline). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Apr 2017.