The goal of this observational study is to observe the relation between excercise parameters - assessed by CPET - and rest/stress hemodynamic parameters - assessed by echocardiogram and CMR - in patients with a genetic diagnosis of Anderson-Fabry Disease. Participants will undergo: * baseline evaluation: clinical evaluation, disease staging with FASTEX and MSSI, KCCQ for quality of life assessment, resting 12-leads ECG, 6MWT, CPET-ESE and contrast-enhanced CMR; * before 36 months from baseline: resting 12-leads ECG, 2D rest and stress echocardiogram, CPET-ESE, contrast-enhanced CMR, disease staging with FASTEX and MSSI and KCCQ for quality of life assessment; * up to 7 years from baseline: clinical follow-up.
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
CPET parameters- peak Vo2
Timeframe: At baseline and before 36 months from baseline.
CPET parameters- predicted peak Vo2
Timeframe: At baseline and before 36 months from baseline.
CPET parameters- VE/VCO2 slope
Timeframe: At baseline and before 36 months from baseline.
CPET parameters- oxygen pulse
Timeframe: At baseline and before 36 months from baseline.
CPET parameters- heart rate during exercise
Timeframe: At baseline and before 36 months from baseline.
CPET parameters- presence of chronotropic incompetence, O2 pulse flattening and exercise oscillatory ventilation
Timeframe: At baseline and before 36 months from baseline.
CPET parameters- VO2/work slope
Timeframe: At baseline and before 36 months from baseline.
Echocardiogram parameters- diastolic function at rest
Timeframe: At baseline and before 36 months from baseline.
Echocardiogram parameters- systolic function of the left and right ventricle at rest
Timeframe: At baseline and before 36 months from baseline.
Echocardiogram parameters- right ventricle-pulmonary artery coupling at rest.
Timeframe: At baseline and before 36 months from baseline.
Echocardiogram parameters- exertional diastolic function
Timeframe: At baseline and before 36 months from baseline.
CMR parameters - LV Mass and LV Max Wall Thickness
Timeframe: At baseline and before 36 months from baseline.
CMR parameters - Systolic Function
Timeframe: At baseline and before 36 months from baseline.
CMR parameters - T1 and T2 Mapping
Timeframe: At baseline and before 36 months from baseline.
CMR parameters - presence of late gadolinium enhancement
Timeframe: At baseline and before 36 months from baseline.
CMR parameters - ECV
Timeframe: At baseline and before 36 months from baseline.