NCT06884358Recruiting
Functional Capacity in Anderson-Fabry Disease Patients
FunctiOnal caPaciTy Evaluation Using cardIopulMonary Testing and Stress echocArdiography in Anderson-Fabry Disease Patients: OPTIMA-FD Study
Source: ClinicalTrials.gov · Last updated 2 Jul 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 100 (estimated)
- First submitted
- 27 Jan 2025
- Start date
- 13 Nov 2024
- Primary completion date
- Nov 2031
- Lead sponsor
- IRCCS Policlinico S. Donato
- Diseases
- Fabry disease
- NCT number
- NCT06884358
What you commit to
- Study type: Observational
- Planned participants: 100
- From 13 Nov 2024 to the primary completion date, Nov 2031
- 5 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Any serious medical or psychiatric illness that could, in the investigator's opinion, potentially interfere with a full comprehension of the written consent form.
Lab values
- eGFR \<30 ml/min and other contraindications for CMR (relative controindication: patients with implantable device);
Other
- Musculoskeletal limitation for exercise test on the cyclo ergometer;
- Pregnant or breastfeeding women;
Who the study is looking for
- 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- Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age \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).
Sex: All · Does not accept healthy volunteers
Sites (5)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Spedali Civili Hospital Coordinator of this site? Confirm its status | Brescia | Italy | Active, not recruiting |
| Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Coordinator of this site? Confirm its status | Milan | Italy | Active, not recruiting |
| Fondazione IRCCS San Gerardo dei Tintori Coordinator of this site? Confirm its status | Monza | Italy | Active, not recruiting |
| IRCCS Policlinico San Donato Coordinator of this site? Confirm its status | San Donato Milanese | Italy | Recruiting |
| Regina Margherita Hospital Coordinator of this site? Confirm its status | Turin | Italy | Active, not recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.