ClinicalTrials.gov record NCT04440254

Long Duration Holter ECG in Fabry Disease

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Natural History of Cardiac Rhythm and Conduction Disorders in Patients With Fabry Disease Evaluated by Long-Term Implantable Holter ECG

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
Age18 years old and older
SexMale
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This single-group, non-blinded study will implant a miniaturized subcutaneous Holter ECG device (Medtronic Reveal-LINQ™) and follow participants for three years to record cardiac arrhythmias and conduction disorders. The study is aimed at adult men with Fabry Disease. Secondary aims include comparing electrical findings with cardiac MRI and echocardiography, blood biomarkers (BNP/NT-proBNP, ultra-sensitive troponin, Lyso-Gb3), Mainz Severity Score Index (MSSI), and renal function.

What it is studying. Whether an implantable long-term Holter ECG records the occurrence of cardiac arrhythmias and conduction disorders over three years in people with Fabry Disease, and how those electrical events relate to MRI, echocardiography, blood biomarkers, and disease-severity measures.

What the researchers hope to learn. To measure the occurrence of arrhythmias and conduction disorders over three years using an implantable Holter ECG, and to analyze correlations between electrical abnormalities and changes in cardiac MRI, echocardiography, concentrations of BNP/NT-proBNP, ultra-sensitive troponin, Lyso-Gb3, MSSI score, and renal function.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Diagnostic test
  • Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording device

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • 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
  • 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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will have a small subcutaneous implantable Holter ECG placed under local anesthesia (presternal or subclavicular area) and monitored over a three‑year follow-up; the device will be removed and cardiac MRI will be performed before implantation and after removal (at inclusion and at 36 months). During follow-up you will have periodic heart imaging (echocardiography), blood tests (for markers such as BNP/NT‑proBNP, troponin, Lyso‑Gb3 and renal tests), and disease severity assessments (MSSI, proteinuria). The study team will collect and compare these tests with the device-recorded heart rhythm data. You will be asked to sign an informed consent form before any study procedures.

How the study is structured. Interventional diagnostic study with a single treatment group. Participants receive a subcutaneous implantable Holter ECG for continuous rhythm monitoring and are followed for three years. The study is non-randomized and non-blinded; cardiac MRI is performed before device implantation and after device removal to avoid imaging artifacts.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Fabry disease

Clinical trials47 trials listed for Fabry diseaseEvery trial the registry lists for Fabry disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Fabry disease researchLatest monthly update: September 2026. Includes: SGLT2 outcome link. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
May 5, 2021
Primary completion
Apr 30, 2029 (estimated)
Study completion
Apr 30, 2029 (estimated)
Target enrollment
40 participants (estimated)
Last updated on registry
Feb 18, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Institut National de la Santé Et de la Recherche Médicale, France

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

follow-up
The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
ECG
A recording of the heart's electrical activity. QTc is one measurement from it; some drugs are avoided if it is prolonged.
MRI
A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
informed consent form
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
corticosteroid
Steroid medicines, such as prednisone, that reduce inflammation. Studies often require a stable dose at entry or measure whether the study treatment allows the dose to be reduced.
immunosuppressive
A medicine that reduces the activity of the immune system. Studies of autoimmune conditions often require a stable dose, a prior failure, or a washout of such medicines.
creatinine clearance
A measure of kidney function, calculated from a blood creatinine level together with age, weight and sex.
contraindication
A reason a particular test or treatment should not be used for a person, for example a metal implant that rules out an MRI scan.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
blinded
Who does not know which intervention a participant is receiving. It can apply to participants, the people giving the treatment, those assessing results, or those analysing the data.
randomized
Participants are assigned to the study groups by chance, like a coin toss, rather than chosen by the doctor or the participant. This is done so the groups are comparable.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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