Molecular Imaging in Fabry Disease of the Heart

ConditionFabry Disease, Cardiac Variant

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age18+

SponsorUniversity of Cambridge

About this trial

Better methods for early detection of cardiac involvement in Fabry disease are needed to inform clinical management decisions that can help prevent or slow the progression of cardiac complications. In the Molecular Imaging of Inflammation in Fabry Disease of the Heart study, the investigators will test the use of 68Ga-DOTATATE PET/MRI for identifying myocardial inflammation in patients with Fabry disease.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Male or female participants >18 years old

Able to give written, informed consent and to lie flat

Have Fabry disease based on molecular diagnosis (at a minimum, documented enzyme deficiency in males and documented pathogenic mutation in females)

Cardiac MRI within 3 years documenting cardiac involvement in Fabry disease (left ventricular hypertrophy and/or late gadolinium enhancement and/or myocardial oedema)

Disqualifiers

Any other diagnosis associated with cardiac muscle inflammation, including myocarditis

Previous gene therapy

Contra-indication to MRI scanning or intravenous gadolinium contrast (prior contrast reaction or chronic kidney disease with eGFR <30 mL/min/1.73 m2)

Women of child bearing potential not using adequate contraception

Trial population

Participants with cardiac involvement in Fabry disease assessed by MRI

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

68Ga-DOTATATE PET/MRI
Diagnostic test
PET/MRI scanning

Treatment groups

12 Participants

are divided into 1 treatment group

Group A: Fabry Disease with cardiac involvement1 intervention

Trial outcomes

Primary outcomes

PET imaging vs. oedema detected by MRI

Concordance between 68Ga-DOTATATE PET signal and myocardial oedema on MRI assessed by T2-weighted imaging

Time frame

Baseline

PET imaging vs. fibrosis detected by MRI

Concordance between 68Ga-DOTATATE PET signal and myocardial fibrosis detected by late gadolinium enhancement MRI

Time frame

Baseline

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University of Cambridge

Lead sponsor

Sanofi

Collaborator

Source ClinicalTrials.gov

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