Long Duration Holter ECG in Fabry Disease

NCT04440254 | Recruiting DMC

• 1 other identifier: C19-57
• Study Type: interventional
• Target: 40
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (1)

• Occurrence of cardiac arrhythmias and conduction disorders

  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

  3 years

Study Arms (1)

ONE

OTHER

One single group of patients

Diagnostic Test: Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording device

Interventions

Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording device DIAGNOSTIC_TEST

Subcutaneously implanted under local anesthesia of the device on the presternal or subclavicular region

ONE

Eligibility Criteria

• Age: 18 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Male patient
• 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

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

20 Rue Leblanc, HEGP/PARCC, 75015 Paris

Paris, Paris, 75015, France

RECRUITING

MeSH Terms

Conditions

Fabry Disease

Interventions

Embryo Implantation

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Embryonic Development; Embryonic and Fetal Development; Reproduction; Reproductive Physiological Phenomena; Reproductive and Urinary Physiological Phenomena

Central Study Contacts

Albert HAGEGE, Dr

CONTACT

0156093713; albert.hagege@inserm.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 12, 2020
• First Posted: June 19, 2020
• Study Start: May 5, 2021
• Primary Completion (Estimated): April 30, 2029
• Study Completion (Estimated): April 30, 2029
• Last Updated: February 18, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)