Exercise and Heart Function Study in Fabry Disease Patients
Studies how exercise tests relate to heart function scans in people with Fabry disease.
Plain-language title generated from the registry record
Registry title: Functional Capacity in Anderson-Fabry Disease Patients
Key facts
- Where
- Brescia, Milan, Monza, San Donato Milanese, and Turin, ItalySee the 5 sites
Where in Italy
- Spedali Civili HospitalBrescia, ItalyNo longer taking part
- Fondazione IRCCS Cà Granda Ospedale Maggiore PoliclinicoMilan, ItalyNo longer taking part
- Fondazione IRCCS San Gerardo dei TintoriMonza, ItalyNo longer taking part
- IRCCS Policlinico San DonatoSan Donato Milanese, ItalyTaking people
- Regina Margherita HospitalTurin, ItalyNo longer taking part
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- IRCCS Policlinico S. Donato
- Trial code
- NCT06884358
- Record updated
- 2 July 2026
- Original description
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.Read full original descriptionShow less
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: 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diagnosis of AFD, according to current guidelines; Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age 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: Any serious medical or psychiatric illness that could, in the investigator's opinion, potentially interfere with a full comprehension of the written consent form; 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.