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
This trial does not accept healthy volunteersQualifiers
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Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age 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 population
Patient with AFD from Italian referral centers.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
100 Participants
are grouped into 4 trial groupsGroup A: Normal cardiac parameters and normal T1
Group B: Normal cardiac parameters and reduced T1
Group C: LVH without LGE
Group D: Advanced cardiomyopathy with LVH and LGE
Trial outcomes
Primary outcomes
1
CPET parameters- peak Vo2
Peak VO2 ml/Kg/min
Time frame
At baseline and before 36 months from baseline.2
CPET parameters- predicted peak Vo2
Predicted peak VO2 (%).
Time frame
At baseline and before 36 months from baseline.3
CPET parameters- VE/VCO2 slope
VE/VCO2 slope
Time frame
At baseline and before 36 months from baseline.4
CPET parameters- oxygen pulse
02 pulse (ml/beat)
Time frame
At baseline and before 36 months from baseline.Secondary outcomes
1
Incidence of Cardiovascular Events
Absolute number of all-cause mortality, CV death, ventricular arrhytmias (sustained and non-sustained VT and VF), bradyarrhytmias requiring permanent pacing, new-onset of atrial fibrillation/atrial flutter, myocardial infarction and stroke.
Time frame
Up to 7 years follow-up.Sponsors and contacts
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Source ClinicalTrials.gov