Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease

NCT02956954 | Completed

• 1 other identifier: 2016/092/HP
• Study Type: interventional
• Target: 26
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Anderson-Fabry Disease

Keywords

Enzyme replacement therapy

Outcome Measures

Primary Outcomes (1)

• Difference from baseline in Septal myocardial T1 relaxation time

  Septal myocardial T1 relaxation time will be evaluated using MRI for treated and untreated patient

  24 months

Secondary Outcomes (3)

• Difference from baseline in Septal myocardial T1 relaxation time

  6 months

• Difference from baseline in Septal myocardial T1 relaxation time

  12 months

• Difference from baseline in Septal myocardial T1 relaxation time

  18 months

Study Arms (2)

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®))

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®))

Procedure: Magnetic Resonance Imaging

Interventions

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

Patient treated with Enzyme replacement therapy

Magnetic Resonance Imaging PROCEDURE

Magnetic Resonance Imaging will be assessed every 6 months during 2 years

Patient no treated with Enzyme replacement therapy; Patient treated with Enzyme replacement therapy

Eligibility Criteria

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

You may qualify if:

• Patient with proven Anderson Fabry Disease
• Patient with no Agalsidase alpha (Replagal®) treatment or
• Patient with Agalsidase alpha (Replagal®) treatment ongoing

You may not qualify if:

• Pace Maker / Implantable Cardiac Defibrillator
• Claustrophobia
• Ocular foreign body
• Allergy to gadolinium chelates
• Pregnancy ongoing
• Age \< 18 years l

Sponsors & Collaborators

• University Hospital, Rouen: lead

Study Sites (1)

Rouen University Hospital

Rouen, France

Location

Related Publications (1)

• 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.

  PMID: 39988522 RESULT

MeSH Terms

Conditions

Fabry Disease

Interventions

Enzyme Replacement Therapy; alpha-Galactosidase; agalsidase alfa; Magnetic Resonance Spectroscopy

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)

Enzyme Therapy; Drug Therapy; Therapeutics; Galactosidases; Glycoside Hydrolases; Hydrolases; Enzymes; Enzymes and Coenzymes; Spectrum Analysis; Chemistry Techniques, Analytical; Investigative Techniques

Study Officials

• Jean-Nicolas DACHER, Pr

  University Hospital, Rouen

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 3, 2016
• First Posted: November 7, 2016
• Study Start: March 25, 2017
• Primary Completion: January 23, 2023
• Study Completion: January 23, 2023
• Last Updated: April 17, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)