Functional Capacity in Anderson-Fabry Disease Patients

Condition(s) studied

Study summary

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.

Eligibility

Primary outcome measure(s)

• CPET parameters- peak Vo2 — At baseline and before 36 months from baseline.
  Peak VO2 ml/Kg/min
• CPET parameters- predicted peak Vo2 — At baseline and before 36 months from baseline.
  Predicted peak VO2 (%).
• CPET parameters- VE/VCO2 slope — At baseline and before 36 months from baseline.
  VE/VCO2 slope
• CPET parameters- oxygen pulse — At baseline and before 36 months from baseline.
  02 pulse (ml/beat)
• CPET parameters- heart rate during exercise — At baseline and before 36 months from baseline.
  Heart rate reserve (beats/minute) Heart rate recovery (beat/minute) Heart rate recovery at one minute (beat/minute)
• CPET parameters- presence of chronotropic incompetence, O2 pulse flattening and exercise oscillatory ventilation — At baseline and before 36 months from baseline.
  Chronotropic incompetence (yes/no) 02 pulse flattening (yes/no) exercise oscillatory ventilation (yes/no)
• CPET parameters- VO2/work slope — At baseline and before 36 months from baseline.
  VO2/work slope (ml/min/watt)
• Echocardiogram parameters- diastolic function at rest — At baseline and before 36 months from baseline.
  At rest E/A ratio. At rest mean E/E'. At rest left atrial reservoir function (%). At rest sPAP (mmHg).
• Echocardiogram parameters- systolic function of the left and right ventricle at rest — At baseline and before 36 months from baseline.
  At rest TAPSE (mm) At rest LV ejection fraction (%) At rest LV stroke volume indexed for body mass surface (ml/mq) At rest right ventricular free wall strain (%)
• Echocardiogram parameters- right ventricle-pulmonary artery coupling at rest. — At baseline and before 36 months from baseline.
  At rest TAPSE/sPAP (mm/mmHg)
• Echocardiogram parameters- exertional diastolic function — At baseline and before 36 months from baseline.
  exertional E/A, exertional mean E/E' exertional TAPE/sPAP (mm/mmHg) mPAP/CO (mmHg/L/min)
• CMR parameters - LV Mass and LV Max Wall Thickness — At baseline and before 36 months from baseline.
  LV mass (gr) and LV max wall thickness (mm).
• CMR parameters - Systolic Function — At baseline and before 36 months from baseline.
  Stroke volume indexed to body surface (ml/m2) and left ventricular ejection fraction (%).
• CMR parameters - T1 and T2 Mapping — At baseline and before 36 months from baseline.
  T1 and T2 mapping (msec).
• CMR parameters - presence of late gadolinium enhancement — At baseline and before 36 months from baseline.
  late gadolinium enhancement (yes/no)
• CMR parameters - ECV — At baseline and before 36 months from baseline.
  Extracellular volume (%)

Trial sites (5)

More IRCCS Policlinico S. Donato trials in Italy