Functional Capacity in Anderson-Fabry Disease Patients (OPTIMA-FD)

San Donato Group (GSD)

Status

Enrolling

Conditions

Anderson-Fabry Disease

Study type

Observational

Funder types

Other

Identifiers

NCT06884358

OPTIMA-FD

Details and patient eligibility

About

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.

Enrollment

100 estimated patients

Sex

All

Volunteers

No Healthy Volunteers

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Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age 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