Functional Capacity in Anderson-Fabry Disease Patients

Recruiting now

Conditions studied: Anderson-Fabry Disease

In brief

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.

Key facts

Study ID

NCT06884358

Run by

IRCCS Policlinico S. Donato

People needed

100

Starts

2024-11-13

Expected to finish

2032-01-01

Last updated by the study team

2026-07-02

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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• Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age 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

You may not qualify if…

• 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 is running

• IRCCS Policlinico San Donato — San Donato Milanese, Milan, Italy (enrolling)
• Spedali Civili Hospital — Brescia, Brescia, Italy
• Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico — Milan, Milan, Italy
• Fondazione IRCCS San Gerardo dei Tintori — Monza, Monza, Italy
• Regina Margherita Hospital — Turin, Turin, Italy

Full record on ClinicalTrials.gov

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