Anderson-Fabry DiseaseMyFABT1NCT02956954
Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease
A study testing Enzyme replacement therapy (Agalsidase alpha (Replagal®)) and Magnetic Resonance Imaging in people with Anderson-Fabry Disease, run by University Hospital, Rouen at 1 site in France.
Trial summary
Anderson Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase. AFD can involve various organs and lead to a series of clinical abnormalities. Left ventricular hypertrophy in middle-aged men is one of its life threatening complications. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Anderson-Fabry Disease
- What is being tested?
- Enzyme replacement therapy (Agalsidase alpha (Replagal®)) and Magnetic Resonance Imaging
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 26 participants
- Where
- 1 siteFrance
- Study dates
- 25 Mar 2017to 23 Jan 2023
- 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 proven Anderson Fabry Disease
- Patient with no Agalsidase alpha (Replagal®) treatment or
- Patient with Agalsidase alpha (Replagal®) treatment ongoing
Who cannot join
- Pace Maker / Implantable Cardiac Defibrillator
- Claustrophobia
- Ocular foreign body
- Allergy to gadolinium chelates
- Pregnancy ongoing
- Age < 18 years l
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease (AFD): Impact of Treatment by Agalsidase Alpha (Replagal®)
Anderson Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase. AFD can involve various organs and lead to a series of clinical abnormalities. Left ventricular hypertrophy in middle-aged men is one of its life threatening complications. It was shown that pending the absence of myocardial replacement fibrosis, substitution therapy could improve myocardial morphology and function as well as exercise capacity. Today, there is no available marker of the efficacy of the treatment on the heart morphology and function.
The T1 time (or longitudinal relaxation time) is one of the major components of the image formation in Magnetic Resonance Imaging (along with T2 time and proton density). Several techniques have been described to assess the myocardial T1-time.
Read more
One of them called MOLLI (Modified Look Locker Inversion Recovery), was made available in research centres by the Siemens company. In a study published in 2013, Sado et al. showed in a series of various conditions (hypertension, AFD, hypertrophic cardiomyopathy, AL amyloidosis, aortic stenosis and healthy volunteers) that a septal T1 below a threshold of 940ms could discriminate AFD patients. No overlap was shown with other conditions in this study. Our experience with T1 mapping supports that finding (even though our threshold could be slightly different), and we could recently detect by MRI a number of AFD patients, some of them with hypertrophy, some others without hypertrophy. The effect of Replagal® on the T1 relaxation time remains unknown.
The purpose of that study was to follow-up the heart morphology, function and myocardial T1 relaxation time in a population of treated/untreated patients.
- Conditions
- Anderson-Fabry Disease
- Being tested
- Enzyme replacement therapy (Agalsidase alpha (Replagal®)), Magnetic Resonance Imaging
- Keywords
- Enzyme replacement therapy
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Enzyme replacement therapy (Agalsidase alpha (Replagal®))Drug
Patient treated with Enzyme replacement therapy as usual (Agalsidase alpha (Replagal®)). The treatment is prescribed in routine and not specially for the protocol
Magnetic Resonance ImagingProcedure or surgery
Magnetic Resonance Imaging will be assessed every 6 months during 2 years
| Study group | Role | What they receive |
|---|---|---|
| Patient treated with Enzyme replacement therapy | Experimental | Magnetic Resonance Imaging will be done every 6 months for patient treated with Enzyme replacement therapy (Agalsidase alpha (Replagal®)) Receives: Drug: Enzyme replacement therapy (Agalsidase alpha (Replagal®)); Procedure: Magnetic Resonance Imaging |
| Patient no treated with Enzyme replacement therapy | Sham comparator | Magnetic Resonance Imaging will be done every 6 months for patient treated with Enzyme replacement therapy (Agalsidase alpha (Replagal®)) Receives: Procedure: Magnetic Resonance Imaging |
What is being measured
The primary outcome is the main question the study is designed to answer.
Difference from baseline in Septal myocardial T1 relaxation time
Septal myocardial T1 relaxation time will be evaluated using MRI for treated and untreated patient
Measured: 24 months
Secondary outcomes (3)
Difference from baseline in Septal myocardial T1 relaxation time
Septal myocardial T1 relaxation time will be evaluated using MRI for treated and untreated patient
Measured: 6 months
Difference from baseline in Septal myocardial T1 relaxation time
Septal myocardial T1 relaxation time will be evaluated using MRI for treated and untreated patient
Measured: 12 months
Difference from baseline in Septal myocardial T1 relaxation time
Septal myocardial T1 relaxation time will be evaluated using MRI for treated and untreated patient
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Nov 2016 (estimated)
- Study start25 Mar 2017
- Primary completion23 Jan 2023
- Study completion23 Jan 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Anderson-Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by University Hospital, RouenThe 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
- 26 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Rouen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Jean-Nicolas DACHER, Pr, Principal investigator, University Hospital, Rouen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02956954
- Sponsor's protocol ID
- 2016/092/HP
- Acronym
- MyFABT1
- Status last verified
- Apr 2026
- First submitted
- 3 Nov 2016
- Last updated
- 17 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Senlis J, Labombarda F, Burel J, Flouriot A, Normant S, Demeyere M, Lairez O, Ghannudi SE, Jacquier A, Ghekiere O, Cadour F, Dacher JN. Cardiac magnetic resonance imaging in the follow-up of patients with Fabry cardiomyopathy. Diagn Interv Imaging. 2025 Jul-Aug;106(7-8):247-254. doi: 10.1016/j.diii.2025.02.002. Epub 2025 Feb 23.
PubMed 39988522
Study at a glance
From the registry record, last updated by the sponsor on 17 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease (AFD): Impact of Treatment by Agalsidase Alpha (Replagal®)
- ClinicalTrials.gov ID
- NCT02956954
- Acronym / sponsor ID
- MyFABT1 / 2016/092/HP
- Conditions
- Anderson-Fabry Disease
- Keywords
- Enzyme replacement therapy
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 26 participants (actual)
- Lead sponsor
- University Hospital, RouenUniversity, hospital or other
- Study start
- 25 Mar 2017 (actual)
- Primary completion
- 23 Jan 2023 (actual)
- Study completion
- 23 Jan 2023 (actual)
- First posted
- 7 Nov 2016 (estimated)
- 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 (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase. AFD can involve various organs and lead to a series of clinical abnormalities. Left ventricular hypertrophy in middle-aged men is one of its life threatening complications. It was shown that pending the absence of myocardial replacement fibrosis, substitution therapy could improve myocardial morphology and function as well as exercise capacity. Today, there is no available marker of the efficacy of the treatment on the heart morphology and function.
The T1 time (or longitudinal relaxation time) is one of the major components of the image formation in Magnetic Resonance Imaging (along with T2 time and proton density). Several techniques have been described to assess the myocardial T1-time.
One of them called MOLLI (Modified Look Locker Inversion Recovery), was made available in research centres by the Siemens company. In a study published in 2013, Sado et al. showed in a series of various conditions (hypertension, AFD, hypertrophic cardiomyopathy, AL amyloidosis, aortic stenosis and healthy volunteers) that a septal T1 below a threshold of 940ms could discriminate AFD patients. No overlap was shown with other conditions in this study. Our experience with T1 mapping supports that finding (even though our threshold could be slightly different), and we could recently detect by MRI a number of AFD patients, some of them with hypertrophy, some others without hypertrophy. The effect of Replagal® on the T1 relaxation time remains unknown.
The purpose of that study was to follow-up the heart morphology, function and myocardial T1 relaxation time in a population of treated/untreated patients.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patient treated with Enzyme replacement therapy | Experimental | Drug: Enzyme replacement therapy (Agalsidase alpha (Replagal®)), Procedure: Magnetic Resonance ImagingMagnetic Resonance Imaging will be done every 6 months for patient treated with Enzyme replacement therapy (Agalsidase alpha (Replagal®)) |
| Patient no treated with Enzyme replacement therapy | Sham comparator | Procedure: Magnetic Resonance ImagingMagnetic Resonance Imaging will be done every 6 months for patient treated with Enzyme replacement therapy (Agalsidase alpha (Replagal®)) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- Patient with proven Anderson Fabry Disease
- Patient with no Agalsidase alpha (Replagal®) treatment or
- Patient with Agalsidase alpha (Replagal®) treatment ongoing
Key exclusion criteria (6 listed)
- Pace Maker / Implantable Cardiac Defibrillator
- Claustrophobia
- Ocular foreign body
- Allergy to gadolinium chelates
- Pregnancy ongoing
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 |
|---|---|---|
| Enzyme replacement therapy (Agalsidase alpha (Replagal®))Patient treated with Enzyme replacement therapy as usual (Agalsidase alpha (Replagal®)). The treatment is prescribed in routine and not specially for the protocol | Drug | Patient treated with Enzyme replacement therapy |
| Magnetic Resonance ImagingMagnetic Resonance Imaging will be assessed every 6 months during 2 years | Procedure or surgery | Patient no treated with Enzyme replacement therapy, Patient treated with Enzyme replacement therapy |
Primary outcome
Difference from baseline in Septal myocardial T1 relaxation time
Time frame: 24 months
Septal myocardial T1 relaxation time will be evaluated using MRI for treated and untreated patient
3 secondary outcomes
Difference from baseline in Septal myocardial T1 relaxation time
Time frame: 6 months
Difference from baseline in Septal myocardial T1 relaxation time
Time frame: 12 months
Difference from baseline in Septal myocardial T1 relaxation time
Time frame: 18 months
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 17 Apr 2026.
- Results publication: PubMed 39988522Senlis J, Labombarda F, Burel J, Flouriot A, Normant S, Demeyere M, Lairez O, Ghannudi SE, Jacquier A, Ghekiere O, Cadour F, Dacher JN. Cardiac magnetic resonance imaging in the follow-up of patients with Fabry cardiomyopathy. Diagn Interv Imaging. 2025 Jul-Aug;106(7-8):247-254. doi: 10.1016/j.diii.2025.02.002. Epub 2025 Feb 23.
- Individual participant dataSharing planned: No
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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.
Jean-Nicolas DACHER, Pr principal investigator
University Hospital, Rouen
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Enzyme replacement therapy (Agalsidase alpha (Replagal®)) and Magnetic Resonance Imaging in people with Anderson-Fabry Disease, run by University Hospital, Rouen 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 3 inclusion and 6 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 17 Apr 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. Some participants in this study may receive a placebo. 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?
Difference from baseline in Septal myocardial T1 relaxation time (time frame: 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02956954, which also lists 1 linked publication.
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 17 Apr 2026.