Functional Capacity in Anderson-Fabry Disease Patients
FunctiOnal caPaciTy Evaluation Using cardIopulMonary Testing and Stress echocArdiography in Anderson-Fabry Disease Patients: OPTIMA-FD Study
IRCCS Policlinico S. Donato
100 participants
Nov 13, 2024
OBSERVATIONAL
Conditions
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
Inclusion Criteria2
- 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- Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age 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 Criteria4
- 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.
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Locations(5)
View Full Details on ClinicalTrials.gov
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NCT06884358