Functional Capacity in Anderson-Fabry Disease Patients
ConditionAnderson-Fabry Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorIRCCS Policlinico S. Donato
About this trial
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
Qualifiers
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Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age 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).
Disqualifiers
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.
Trial design
Treatments tested in this trial
- Not listed
Trial groups
100 Participants
are grouped into 4 trial groupsSponsors and collaborators
Source ClinicalTrials.gov