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Exercise and Heart Function Study in Fabry Disease Patients

Studies how exercise tests relate to heart function scans in people with Fabry disease.

Key facts

Who runs it
IRCCS Policlinico S. Donato
Where
Brescia, Milan, Monza, San Donato Milanese, and Turin, ItalySee the 5 sites
Trial code
Registry title
Functional Capacity in Anderson-Fabry Disease Patients
Status
Recruiting
People taking part
100 people, planned
Started
13 Nov 2024
Expected to end
Jan 2032
Type of study
Observational, 4 groups
Record updated
2 July 2026

Who can take part

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for people with a genetic diagnosis of Anderson-Fabry disease. It studies how exercise tests relate to heart function tests.

Age
No age limit is given. People under 18 can join with a caregiver's written consent.
Sex
All sexes can join.
Biomarker or test result
A genetic diagnosis of Anderson-Fabry disease, according to current guidelines.

Main reasons for not taking part

  • eGFR below 30 ml/min or other reasons that rule out a cardiac MRI scan
  • Bone or muscle problems that prevent an exercise test on the exercise bike
  • Pregnant or breastfeeding women
  • Serious medical or psychiatric illness that could get in the way of understanding the consent form

The registry criteria, word for word

Show all 6 criteriaShow less

Who can take part

  • 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  • Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age 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)

Who cannot take part

  • 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

Where in Italy

  • Spedali Civili HospitalBrescia, ItalyContact: Massimo Piepoli, MD, PhDNo longer taking part
  • Fondazione IRCCS Cà Granda Ospedale Maggiore PoliclinicoMilan, ItalyContact: Massimo Piepoli, MD, PhDNo longer taking part
  • Fondazione IRCCS San Gerardo dei TintoriMonza, ItalyContact: Massimo Piepoli, MD, PhDNo longer taking part
  • IRCCS Policlinico San DonatoSan Donato Milanese, ItalyContact: Massimo Piepoli, MD, PhDTaking people
  • Regina Margherita HospitalTurin, ItalyContact: Massimo Piepoli, MD, PhDNo longer taking part

About the trial

What the trial wants to find out

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

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.

The 4 groups in the trial

  • Normal cardiac parameters and normal T1

    AFD patients with normal cardiac parameters and normal T1.

  • Normal cardiac parameters and reduced T1

    AFD patients with no LVH and myocardial reduced T1 .

  • LVH without LGE

    Patients with LVH without LGE.

  • Advanced cardiomyopathy with LVH and LGE

    AFD patients with advanced cardiomyopathy with LVH and LGE.

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
Official title
FunctiOnal caPaciTy Evaluation Using cardIopulMonary Testing and Stress echocArdiography in Anderson-Fabry Disease Patients: OPTIMA-FD Study
Plain-language title
Exercise and Heart Function Study in Fabry Disease PatientsGenerated from the registry record. The registry title is the official one.
AI summary
From the trial's eligibility criteria. Read by machine on 12 November 2026.
Record updated
2 July 2026