Fabry disease
Conditions
Interventions
ERT-naive group:None
Sponsors
Chinese University of Hong Kong
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
Inclusion criteria: 1. ERT-naive group: (1) Aged >=18-year-old; (2) East Asian ethnicities; (3) Not on ERT; (4) Capable of giving signed informed consent (5) IVS4+919G>A GLA mutation AND at least ONE of the followings*: 1) An increase of plasma LysoGb3 level; 2) Demonstration of characteristic storage in the affected organ (e.g. heart, kidney). *Based on the Diagnostic criteria for a definite diagnosis of FD recommended by the European Fabry Working Group. 2. ERT comparator group: (1) Aged >=18-year-old; (2) Capable of giving signed informed consent; (3) East Asian ethnicities; (4) On ERT or planned to start ERT; (5) IVS4+919G>A mutation; Therapies participants will be receiving is agalsidase-beta, based on the clinical decision of physicians.
Exclusion criteria
Exclusion criteria: 1. Known infiltrative cardiomyopathy including amyloidosis; 2. Known genetic (e.g. sarcomeric, metabolic mutations) hypertrophic cardiomyopathy; 3. Pregnancy or suspected pregnancy. 4. Patients with contraindications to CMR and/or gadolinium contrast will be eligible for the study, but will not undergo CMR. 5. Women of reproductive age will undergo pregnancy test (urine) within 2 weeks prior to CMR (if applicable), before proceeding to scanning of patients or volunteers of MRI reference range group.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| LV mass (index);Papillary muscle mass (index);Left Ventricular Ejection Fraction;Left Ventricular End-Diastolic Volume;Left Ventricular End-Systolic Volume;native T1;LGE volume & number of LGE positive LV segments);Extracellular Volume fraction;Left ventricular diastolic interventricular septum and posterior wall thickness septal thickness;Left Ventricular Ejection Fraction;LV maximal wall thickness;Left Ventricular End-Diastolic Volume;Left Ventricular End-Systolic Volume;LV mass (index);Left Atrial Volume;Right Ventricular Volume;Right Ventricular Systolic Pressure;Right Ventricular Ejection Fraction;LV global longitudinal strain ;LA strains;RV free wall and septal longitudinal strains; | — |
Secondary
| Measure | Time frame |
|---|---|
| plasma lyso-Gb3;NT-proBNP;troponins; renal function; | — |
Countries
China
Contacts
Public ContactLEE Pui Wai
Chinese University of Hong Kong
Outcome results
None listed