ClinicalTrials.gov record NCT06884358

Functional Capacity in Anderson-Fabry Disease Patients

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

FunctiOnal caPaciTy Evaluation Using cardIopulMonary Testing and Stress echocArdiography in Anderson-Fabry Disease Patients: OPTIMA-FD Study

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexAll
LocationItaly
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a prospective observational study of people with a genetic diagnosis of Anderson-Fabry disease. Participants have a baseline clinical evaluation including exercise testing (CPET), rest and stress echocardiography, contrast-enhanced cardiac MRI (CMR), and quality-of-life questionnaires; many assessments are repeated before 36 months. Clinical follow-up continues for up to 7 years to record cardiac outcomes.

What it is studying. The study is observing how exercise test results (from cardiopulmonary exercise testing, CPET) relate to resting and stress heart measurements from echocardiography and contrast-enhanced cardiac MRI in people with genetically confirmed Anderson-Fabry disease.

What the researchers hope to learn. To describe and compare exercise capacity measures with imaging and hemodynamic measures in Anderson-Fabry disease. To document CPET, echocardiography and CMR parameters across different cardiac stages of the disease. To collect data on cardiovascular events over follow-up and explore associations with baseline and follow-up test results.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

You would have a baseline visit with clinical evaluation, disease‑staging questionnaires (FASTEX and MSSI), a quality‑of‑life questionnaire (KCCQ), a resting 12‑lead ECG, a 6‑minute walk test, cardiopulmonary exercise testing with stress echocardiography (CPET‑ESE), and a contrast‑enhanced cardiac MRI (CMR). Many of these tests (ECG, rest and stress echocardiogram, CPET‑ESE, contrast‑enhanced CMR, FASTEX, MSSI and KCCQ) are repeated before 36 months from baseline, and clinical follow-up continues for up to 7 years. Tests that may be burdensome include exercise testing on a cycle ergometer and MRI with contrast; people with contraindications to CMR or who cannot perform the exercise test are excluded.

How the study is structured. A prospective, observational cohort study. Participants receive a baseline clinical exam, CPET, 12-lead ECG, 6-minute walk test, combined CPET and stress echocardiography, contrast-enhanced CMR, disease-staging scores, and quality-of-life questionnaires. Key tests are repeated before 36 months from baseline, and participants are followed clinically for up to 7 years to record cardiovascular events.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Italy. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Fabry disease

Clinical trials47 trials listed for Fabry diseaseEvery trial the registry lists for Fabry disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Fabry disease researchLatest monthly update: September 2026. Includes: SGLT2 outcome link. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Nov 13, 2024
Primary completion
November 2031 (estimated)
Study completion
January 2032 (estimated)
Target enrollment
100 participants (estimated)
Last updated on registry
Jul 2, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
IRCCS Policlinico S. Donato
Principal investigator
Massimo Piepoli, MD, PhD
IRCCS Policlinico S. Donato

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (5)

  • Spedali Civili HospitalActive Not Recruiting

    Brescia, Brescia, 25123 · Italy

  • Fondazione IRCCS Ca' Granda Ospedale Maggiore PoliclinicoActive Not Recruiting

    Milan, Milan, 20122 · Italy

  • IRCCS Policlinico San DonatoRecruiting

    San Donato Milanese, Milan, 20097 · Italy

  • Fondazione IRCCS San Gerardo dei TintoriActive Not Recruiting

    Monza, Monza, 20900 · Italy

  • Regina Margherita HospitalActive Not Recruiting

    Turin, Turin, 10124 · Italy

Terms used on this page · explanations by MedicalUpdates.ai

echocardiogram
An ultrasound scan of the heart. A transesophageal echocardiogram is done through a probe passed into the food pipe for a closer view.
baseline
Measurements taken at the start of the study, before any study treatment, so that later results can be compared with them.
ECG
A recording of the heart's electrical activity. QTc is one measurement from it; some drugs are avoided if it is prolonged.
6MWT
A test of how far a person can walk on a flat surface in six minutes. It is used to measure stamina and to track change over time.
follow-up
The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
eGFR
A blood-test estimate of how well the kidneys are filtering. Lower numbers mean reduced kidney function; many studies set a minimum value.
contraindications
A reason a particular test or treatment should not be used for a person, for example a metal implant that rules out an MRI scan.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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