RecruitingNCT06884358

Functional Capacity in Anderson-Fabry Disease Patients

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


Sponsor

IRCCS Policlinico S. Donato

Enrollment

100 participants

Start Date

Nov 13, 2024

Study Type

OBSERVATIONAL

Conditions

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

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying a new treatment for people with anderson fabry disease. The study is currently recruiting participants at 5 locations.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(5)

Spedali Civili Hospital

Brescia, Brescia, Italy

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Milan, Milan, Italy

IRCCS Policlinico San Donato

San Donato Milanese, Milan, Italy

Fondazione IRCCS San Gerardo dei Tintori

Monza, Monza, Italy

Regina Margherita Hospital

Turin, Turin, Italy

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NCT06884358


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