Functional Capacity in Anderson-Fabry Disease Patients

FunctiOnal caPaciTy Evaluation Using cardIopulMonary Testing and Stress echocArdiography in Anderson-Fabry Disease Patients: OPTIMA-FD Study

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.

Inclusion Criteria:

• Patients with a genetic diagnosis of AFD, according to current guidelines;
• Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age <18 years old, written consent from a caregiver is mandatory).

Exclusion Criteria:

• eGFR <30 ml/min and other contraindications for CMR (relative controindication: patients with implantable device);
• Musculoskeletal limitation for exercise test on the cyclo ergometer;
• Pregnant or breastfeeding women;
• Any serious medical or psychiatric illness that could, in the investigator's opinion, potentially interfere with a full comprehension of the written consent form.