Fabry DiseaseMAP-FABNCT05923788
T1 Mapping in Fabry Disease
A study testing T1 mapping measurement in people with Fabry Disease, run by Hospices Civils de Lyon at 1 site in France.
Trial summary
Fabry disease (OMIM-301500, FD) is a lysosomal storage disease with X-linked inheritance secondary to mutations in the α-galactosidase A gene (GLA), which cause absence or decreased activity of the lysosomal hydrolase a-galactosidase A (a-gal A). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry Disease
- What is being tested?
- T1 mapping measurement
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 70 participants
- Where
- 1 siteFrance
- Study dates
- 7 Aug 2023to 29 Apr 2026
- Phase
- Interventional
- 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
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Patient with confirmed Fabry disease Or Control patients: Patients undergoing renal functional exploration for a reason other than Fabry disease, amyloidosis, hemochromatosis
- Adult patient
- Patient informed of the study and agree to participate
- Patient affiliated to a social security or beneficiaries of a similar scheme
Who cannot join
- Weight > 130 kg
- kidney transplant,
- polycystic kidney disease,
- Pregnant, parturient or breastfeeding
- Contraindications to MRI
- Subject participating in another research including an exclusion period still in progress at inclusion
- Persons deprived of their liberty by a judicial or administrative decision,
- Adults subject to a legal protection measure (safeguard measure, guardianship, curators)
Trial locations and contacts
1 site in 1 country.
About this study
Official title: T1 Mapping in Diagnosis and Follow up of Fabry Disease
Fabry disease (OMIM-301500, FD) is a lysosomal storage disease with X-linked inheritance secondary to mutations in the α-galactosidase A gene (GLA), which cause absence or decreased activity of the lysosomal hydrolase a-galactosidase A (a-gal A). The accumulation of globotriaosylceramide (Gb3) leads to multiple organs dysfunction, especially in three key organs: kidney, heart and cerebrovascular system. Progressive nephropathy is one of the main features of Fabry disease and is marked by an insidious development. The investigators are facing different current challenges about treatment initiation in non-classic phenotype patients, optimal dose after treatment initiation, and treatments monitoring in Fabry nephropathy. That is even more important that the enzyme replacement therapy is expensive and a lifelong commitment.
Functional magnetic resonance imaging (MRI) is now able to provide T1 mapping sequence. In Fabry disease, T1 mapping is currently used to assess the degree of myocardial involvement. The MRI for assessement of Fabry Cardiomyopathy is now recommended by the 2022 national diagnostic and care protocol (PNDS) in France. However there is no data about T1 mapping values in kidney in Fabry's disease The main Objective is to describe renal performance through multi-parametric MRI in Fabry nephropathy and the primary outcome will be the quantification of renal T1 in Fabry patients.
- Conditions
- Fabry Disease
- Being tested
- T1 mapping measurement
- Keywords
- Fabry Disease, T1 mapping, functional MRI, Fabry nephropathy
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
T1 mapping measurementDiagnostic test
T1 mapping values to test the ability of the MRI sequence to detect Gb3 in kidney
| Study group | Role | What they receive |
|---|---|---|
| Fabry disease | Other | Not described Receives: Diagnostic Test: T1 mapping measurement |
| Patients undergoing renal functional exploration | Other | Patients undergoing renal functional exploration for a reason other than Fabry disease, amyloidosis, hemochromatosis Receives: Diagnostic Test: T1 mapping measurement |
What is being measured
The primary outcome is the main question the study is designed to answer.
T1 value measured
Difference in the measurement of T1 mapping by MRI in Fabry disease patients compared with controls.
T1 mapping is a MRI sequence to estimate renal fibrosis
Measured: Day 1
Secondary outcomes (11)
Apparent diffusion coefficient (ADC) coefficient values
ADC coefficient values to measure the degree of fibrosis in Fabry nephropathy in Fabry disease patients compared with controls.
Measured: Day 1
R2* coefficient values
R2* values to measure the degree of renal alteration in Fabry nephropathy in Fabry disease patients compared with controls.
Measured: Day 1
T2 value measured
Comparison of T2 values measured by T2 mapping MRI between patients with Fabry disease and controls.
T2 mapping is a MRI sequence to estimate renal alteration
Measured: Day 1
T1 mapping measurement Fabry disease
Comparison of T1 mapping values within 3 different subgroups of patients with Fabry disease (treated men, treated or untreated women)
Measured: Day 1
In Fabry disease patients, evaluation of the association between the T1 values measured and concentration of plasma globotriaosylsphingosine (LysoGb3)
Measured: Day 1
In Fabry disease patients, evaluation of the association between glomerular filtration rate and ADC value measured
ADC value measured by diffusion-weighted MRI
Measured: Day 1
In Fabry disease patients, evaluation of the association between glomerular filtration rate and R2* value measured
R2* value measured by blood oxygen level-dependent (BOLD) MRI
Measured: Day 1
In Fabry disease patients, evaluation of the association between glomerular filtration rate and T2 value measured
T2 value measured by T2 mapping MRI
Measured: Day 1
In Fabry disease patients, evaluation of the association between proteinuria and ADC value measured
ADC value measured by diffusion-weighted MRI
Measured: Day 1
In Fabry disease patients, evaluation of the association between proteinuria and R2* value measured
R2* value measured by BOLD MRI
Measured: Day 1
In Fabry disease patients, evaluation of the association between proteinuria and T2 value measured
T2 value measured by T2 mapping MRI
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jun 2023
- Study start7 Aug 2023
- Primary completion29 Apr 2026
- Study completion29 Apr 2026
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.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 70 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05923788
- Sponsor's protocol ID
- 69HCL22_0934
- Other IDs
- 2023-A00475-40
- Acronym
- MAP-FAB
- Status last verified
- Mar 2026
- First submitted
- 24 May 2023
- Last updated
- 2 Jun 2026
- 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 2 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- T1 Mapping in Diagnosis and Follow up of Fabry Disease
- ClinicalTrials.gov ID
- NCT05923788
- Acronym / sponsor ID
- MAP-FAB / 69HCL22_0934
- Conditions
- Fabry Disease
- Keywords
- Fabry Disease, T1 mapping, functional MRI, Fabry nephropathy
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 70 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 7 Aug 2023 (actual)
- Primary completion
- 29 Apr 2026 (actual)
- Study completion
- 29 Apr 2026 (actual)
- First posted
- 28 Jun 2023 (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.
Fabry disease (OMIM-301500, FD) is a lysosomal storage disease with X-linked inheritance secondary to mutations in the α-galactosidase A gene (GLA), which cause absence or decreased activity of the lysosomal hydrolase a-galactosidase A (a-gal A). The accumulation of globotriaosylceramide (Gb3) leads to multiple organs dysfunction, especially in three key organs: kidney, heart and cerebrovascular system. Progressive nephropathy is one of the main features of Fabry disease and is marked by an insidious development. The investigators are facing different current challenges about treatment initiation in non-classic phenotype patients, optimal dose after treatment initiation, and treatments monitoring in Fabry nephropathy. That is even more important that the enzyme replacement therapy is expensive and a lifelong commitment.
Functional magnetic resonance imaging (MRI) is now able to provide T1 mapping sequence. In Fabry disease, T1 mapping is currently used to assess the degree of myocardial involvement. The MRI for assessement of Fabry Cardiomyopathy is now recommended by the 2022 national diagnostic and care protocol (PNDS) in France. However there is no data about T1 mapping values in kidney in Fabry's disease The main Objective is to describe renal performance through multi-parametric MRI in Fabry nephropathy and the primary outcome will be the quantification of renal T1 in Fabry patients.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Fabry disease | Other | Diagnostic Test: T1 mapping measurement |
| Patients undergoing renal functional exploration | Other | Diagnostic Test: T1 mapping measurementPatients undergoing renal functional exploration for a reason other than Fabry disease, amyloidosis, hemochromatosis |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- Patient with confirmed Fabry disease Or Control patients: Patients undergoing renal functional exploration for a reason other than Fabry disease, amyloidosis, hemochromatosis
- Adult patient
- Patient informed of the study and agree to participate
- Patient affiliated to a social security or beneficiaries of a similar scheme
Key exclusion criteria (8 listed)
- Weight > 130 kg
- kidney transplant,
- polycystic kidney disease,
- Pregnant, parturient or breastfeeding
- Contraindications to MRI
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 |
|---|---|---|
| T1 mapping measurementT1 mapping values to test the ability of the MRI sequence to detect Gb3 in kidney | Diagnostic test | Fabry disease, Patients undergoing renal functional exploration |
Primary outcome
T1 value measured
Time frame: Day 1
Difference in the measurement of T1 mapping by MRI in Fabry disease patients compared with controls. T1 mapping is a MRI sequence to estimate renal fibrosis
11 secondary outcomes
Apparent diffusion coefficient (ADC) coefficient values
Time frame: Day 1
R2* coefficient values
Time frame: Day 1
T2 value measured
Time frame: Day 1
T1 mapping measurement Fabry disease
Time frame: Day 1
In Fabry disease patients, evaluation of the association between the T1 values measured and concentration of plasma globotriaosylsphingosine (LysoGb3)
Time frame: Day 1
In Fabry disease patients, evaluation of the association between glomerular filtration rate and ADC value measured
Time frame: Day 1
In Fabry disease patients, evaluation of the association between glomerular filtration rate and R2* value measured
Time frame: Day 1
In Fabry disease patients, evaluation of the association between glomerular filtration rate and T2 value measured
Time frame: Day 1
In Fabry disease patients, evaluation of the association between proteinuria and ADC value measured
Time frame: Day 1
In Fabry disease patients, evaluation of the association between proteinuria and R2* value measured
Time frame: Day 1
In Fabry disease patients, evaluation of the association between proteinuria and T2 value measured
Time frame: Day 1
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jun 2026.
- Individual participant dataSharing planned: No
Related trials for Fabry Disease
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A Study of Patients With Fabry Disease (US Specific)
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Active, not recruiting
Evaluation of the Effect of a Low-FODMAP Diet on Gastrointestinal Symptoms and Inflammatory Markers in Fabry Patients
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A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
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Fabry Disease Registry & Pregnancy Sub-registry
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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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing T1 mapping measurement in people with Fabry Disease, run by Hospices Civils de Lyon 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 4 inclusion and 8 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: finished, as of the sponsor's last update on 2 Jun 2026. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
T1 value measured (time frame: Day 1). 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 2 Jun 2026.