Fabry DiseaseNCT04440254
Long Duration Holter ECG in Fabry Disease
A study testing Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording device in people with Fabry Disease, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
Trial summary
The main objective is to assess the occurrence of cardiac arrhythmias and conduction disorders during a three-year follow-up using implantable Holter ECG monitoring in 40 patients with Fabry disease. Read more about this study
- Who is it for?
- Ages 18 years and older, men only
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording device
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- 1 siteFrance
- Study dates
- 5 May 2021to 30 Apr 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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
- Men only
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Male patient
- Age greater than or equal to 18 years on the day of inclusion
- Presence of a morbid mutation for MF
- Signature of the informed consent form
- Absence of significant valve disease, verified on medical file (absence stenosis or regurgitation <2+ in color Doppler on a scale 1 to 4+ by extension of the jet)
- No history of known or documented myocardial infarction nor CAD
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- No pacemaker or ICD
- no history of AF, NSVT, high-degree AV block
- Correct echogenicity
- No treatment by corticosteroid or immunosuppressive drugs
- creatinine clearance >/= 30 Ml/mn
- LVEF ≥ 50% by ultrasound and / or MRI
- No contraindication to MRI (or claustrophobia) and gadolinium injection
- Affiliation to the French social security insurance
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
20 Rue Leblanc, HEGP/PARCC, 75015 Paris
Paris, Paris, 75015
Albert Hagege, Dr, 0156093713, albert.hagege@inserm.fr
About this study
Official title: Natural History of Cardiac Rhythm and Conduction Disorders in Patients With Fabry Disease Evaluated by Long-Term Implantable Holter ECG
The main objective is to assess the occurrence of cardiac arrhythmias and conduction disorders during a three-year follow-up using implantable Holter ECG monitoring in 40 patients with Fabry disease. The secondary objectives are to analyze the correlations of these anomalies with changes in cardiac MRI and echocardiographic parameters as biological parameters and overall severity of the disease assessed by MSSI.
Read the detailed description
The main objective of this non-blinded, monocentric non-randomized study is to assess the occurrence of cardiac arrhythmias and conduction disorders (sinus dysfunction, branch block [BB], atrioventricular block [BAV], sustained [TVS] or non-supported [TVNS] ventricular tachycardias, atrial fibrillation [AF] during a three-year follow-up in 40 patients with Fabry disease (half with left ventricular hypertrophy) using an implantable Holter ECG device (Medtronic Reveal-LINQ™). The secondary objectives are to analyze the correlations (at 1, 2 and 3 years) of these anomalies with the modifications of :
- cardiac MRI [Magnetic Resonance Imaging] data at inclusion [M0] and at 36 months [M36] (left ventricular hypertrophy [HVG], amplitude of the T1 signal, extent of fibrosis); MRIs will be performed before implantation and after removal of the Holter to avoid the reading artifacts linked to the device.
- echocardiographic measurements of the left ventricle (overall longitudinal strain systolic [SGL] and ejection fraction [FE])
- biological parameters (BNP or NT-proBNP, ultra-sensitive troponin and Lyso-Gb3)
- the overall severity of the disease assessed by MSSI (Mainz Severity Score Index), DFG and proteinuria
- Conditions
- Fabry Disease
- Being tested
- Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording device
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording deviceDiagnostic test
Subcutaneously implanted under local anesthesia of the device on the presternal or subclavicular region
| Study group | Role | What they receive |
|---|---|---|
| ONE | Other | One single group of patients Receives: Diagnostic Test: Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording device |
What is being measured
The primary outcome is the main question the study is designed to answer.
Occurrence of cardiac arrhythmias and conduction disorders
Measured: 3 years
Secondary outcomes (1)
Correlations between electrical disorders and changes in MRI/ultrasonic data (LV mass, T1 signal, fibrosis extent , systolic strain, ejection fraction), concentrations of BNP, troponin, Lyso-Gb3, MSSI score and renal function
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jun 2020
- Study start5 May 2021
- Primary completion30 Apr 2029 (estimated)
- Study completion30 Apr 2029 (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.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe 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
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04440254
- Sponsor's protocol ID
- C19-57
- Status last verified
- Feb 2026
- First submitted
- 12 Jun 2020
- Last updated
- 18 Feb 2026
- Results posted
- No
- Data monitoring committee
- Yes
- 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 18 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Cardiac Rhythm and Conduction Disorders in Patients With Fabry Disease Evaluated by Long-Term Implantable Holter ECG
- ClinicalTrials.gov ID
- NCT04440254
- Acronym / sponsor ID
- C19-57
- Conditions
- Fabry Disease
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 5 May 2021 (actual)
- Primary completion
- 30 Apr 2029 (estimated)
- Study completion
- 30 Apr 2029 (estimated)
- First posted
- 19 Jun 2020 (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.
The main objective is to assess the occurrence of cardiac arrhythmias and conduction disorders during a three-year follow-up using implantable Holter ECG monitoring in 40 patients with Fabry disease. The secondary objectives are to analyze the correlations of these anomalies with changes in cardiac MRI and echocardiographic parameters as biological parameters and overall severity of the disease assessed by MSSI.
Detailed description
The main objective of this non-blinded, monocentric non-randomized study is to assess the occurrence of cardiac arrhythmias and conduction disorders (sinus dysfunction, branch block [BB], atrioventricular block [BAV], sustained [TVS] or non-supported [TVNS] ventricular tachycardias, atrial fibrillation [AF] during a three-year follow-up in 40 patients with Fabry disease (half with left ventricular hypertrophy) using an implantable Holter ECG device (Medtronic Reveal-LINQ™). The secondary objectives are to analyze the correlations (at 1, 2 and 3 years) of these anomalies with the modifications of :
- cardiac MRI [Magnetic Resonance Imaging] data at inclusion [M0] and at 36 months [M36] (left ventricular hypertrophy [HVG], amplitude of the T1 signal, extent of fibrosis); MRIs will be performed before implantation and after removal of the Holter to avoid the reading artifacts linked to the device.
- echocardiographic measurements of the left ventricle (overall longitudinal strain systolic [SGL] and ejection fraction [FE])
- biological parameters (BNP or NT-proBNP, ultra-sensitive troponin and Lyso-Gb3)
- the overall severity of the disease assessed by MSSI (Mainz Severity Score Index), DFG and proteinuria
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| ONE | Other | Diagnostic Test: Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording deviceOne single group of patients |
Who may qualify
- Ages
- 18 years and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (14 listed)
- Male patient
- Age greater than or equal to 18 years on the day of inclusion
- Presence of a morbid mutation for MF
- Signature of the informed consent form
- Absence of significant valve disease, verified on medical file (absence stenosis or regurgitation <2+ in color Doppler on a scale 1 to 4+ by extension of the jet)
Key exclusion criteria (0 listed)
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 |
|---|---|---|
| Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording deviceSubcutaneously implanted under local anesthesia of the device on the presternal or subclavicular region | Diagnostic test | ONE |
Primary outcome
Occurrence of cardiac arrhythmias and conduction disorders
Time frame: 3 years
1 secondary outcome
Correlations between electrical disorders and changes in MRI/ultrasonic data (LV mass, T1 signal, fibrosis extent , systolic strain, ejection fraction), concentrations of BNP, troponin, Lyso-Gb3, MSSI score and renal function
Time frame: 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Feb 2026.
- 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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording device in people with Fabry Disease, run by Institut National de la Santé Et de la Recherche Médicale, France 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 14 inclusion and 0 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: looking for participants now, as of the sponsor's last update on 18 Feb 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Albert HAGEGE, Dr (0156093713, albert.hagege@inserm.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Occurrence of cardiac arrhythmias and conduction disorders (time frame: 3 years). 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 18 Feb 2026.