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This study observes the natural course of Fabry disease in people who carry the IVS4+919G>A mutation in the GLA gene; it is an observational study with no medication given. Adults aged 18 and over of East Asian background who carry this mutation, whether or not they are on enzyme replacement therapy, may take part. It is a study without a phase and is currently not recruiting but ongoing (active, not recruiting).
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: * ERT-naive group: * Age ≥18-year-old * East Asian ethnicities * Not on ERT * Capable of giving signed informed consent * IVS4+919G\>A GLA mutation AND at least ONE of the followings: * • An increase of plasma LysoGb3 level * • Demonstration of characteristic storage in the affected organ (e.g. heart, kidney) * ERT comparator group: * Age ≥18-year-old * Capable of giving signed informed consent * East Asian ethnicities * On ERT or planned to start ERT * IVS4+919G\>A mutation Exclusion Criteria: * Known infiltrative cardiomyopathy including amyloidosis * Known genetic (e.g. sarcomeric, metabolic mutations) hypertrophic cardiomyopathy * Pregnancy or suspected pregnancy