Functional Capacity in Anderson-Fabry Disease Patients

Last updated: March 17, 2025
Sponsor: IRCCS Policlinico S. Donato
Overall Status: Active - Recruiting

Phase

N/A

Condition

Kidney Disease

Fabry Disease

Treatment

N/A

Clinical Study ID

NCT06884358
OPTIMA-FD
  • All Genders

Study Summary

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 Criteria

Inclusion

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  • Informed written consent with the understanding that consent may be withdrawn by thepatient at any time without prejudice to future medical care (for patients age <18years old, written consent from a caregiver is mandatory).

Exclusion

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'sopinion, potentially interfere with a full comprehension of the written consentform.

Study Design

Total Participants: 100
Study Start date:
November 13, 2024
Estimated Completion Date:
January 31, 2032

Connect with a study center

  • IRCCS Policlinico San Donato

    San Donato Milanese, Milan 20097
    Italy

    Active - Recruiting

  • Spedali Civili Hospital

    Brescia, 25123
    Italy

    Site Not Available

  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

    Milan, 20122
    Italy

    Site Not Available

  • Fondazione IRCCS San Gerardo dei Tintori

    Monza, 20900
    Italy

    Site Not Available

  • Regina Margherita Hospital

    Turin, 10124
    Italy

    Site Not Available

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