Observing exercise and heart function in patients with Anderson-Fabry Disease
Official title: FunctiOnal caPaciTy Evaluation Using cardIopulMonary Testing and Stress echocArdiography in Anderson-Fabry Disease Patients: OPTIMA-FD Study
Run by IRCCS Policlinico S. Donato · NCT06884358 · Data updated 2026-11-12
This study looks at how exercise affects heart function in people with Anderson-Fabry Disease to better understand their health and quality of life.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | IRCCS Policlinico S. Donato Academic / other |
| Locations | 5 sites (Brescia, Brescia and 4 other locations) |
| Status | Recruiting |
| Started | November 13, 2024 |
| Main results expected | November 2031 |
| Study ends | January 2032 |
| Registry record updated | July 2, 2026 |
| Trial ID | NCT06884358 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are patients with a confirmed genetic diagnosis of Anderson-Fabry Disease.
✕Probably not a fit
Patients with severe kidney impairment, significant musculoskeletal limitations, or serious medical conditions that affect comprehension may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to explore the relationship between exercise parameters, assessed through cardiopulmonary exercise testing (CPET), and hemodynamic parameters at rest and during stress, evaluated using echocardiograms and cardiac magnetic resonance imaging (CMR) in patients diagnosed with Anderson-Fabry Disease. Participants will undergo a series of evaluations, including clinical assessments, quality of life questionnaires, and various imaging tests over a period of up to seven years. The study seeks to gather comprehensive data to better understand the functional capacity and cardiac involvement in these patients.
Why it matters
Potential benefit: If successful, this study could enhance understanding of cardiac function in Anderson-Fabry Disease, potentially leading to improved management strategies for patients.
How similar studies have gone: While similar observational studies have been conducted, this specific approach focusing on the relationship between exercise and cardiac function in Anderson-Fabry Disease is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
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IRCCS Policlinico San Donato
San Donato Milanese, Milan, Italy Recruiting -
Spedali Civili Hospital
Brescia, Brescia, Italy Active not recruiting -
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, Milan, Italy Active not recruiting -
Fondazione IRCCS San Gerardo dei Tintori
Monza, Monza, Italy Active not recruiting -
Regina Margherita Hospital
Turin, Turin, Italy Active not recruiting
Study contacts
- Study coordinator: Massimo Piepoli, MD, PhD
- Email: massimo.piepoli@grupposandonato.it
- Phone: +39 0252774942
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.