Clinical trial NCT06884358: Functional Capacity in Anderson-Fabry Disease Patients
Official title: FunctiOnal caPaciTy Evaluation Using cardIopulMonary Testing and Stress echocArdiography in Anderson-Fabry Disease Patients: OPTIMA-FD Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Anderson-Fabry Disease
Keywords: Anderson-Fabry Disease
Cardiac Involvement
CMR
CPET
Lead sponsor: IRCCS Policlinico S. Donato
Sponsor class: OTHER
First posted: 2025-03-19
Enrollment: 100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patient with AFD from Italian referral centers.

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* Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age \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

Primary outcomes:
measure: CPET parameters- peak Vo2
timeFrame: At baseline and before 36 months from baseline.
measure: CPET parameters- predicted peak Vo2
timeFrame: At baseline and before 36 months from baseline.
measure: CPET parameters- VE/VCO2 slope
timeFrame: At baseline and before 36 months from baseline.
measure: CPET parameters- oxygen pulse
timeFrame: At baseline and before 36 months from baseline.
measure: CPET parameters- heart rate during exercise
timeFrame: At baseline and before 36 months from baseline.
measure: CPET parameters- presence of chronotropic incompetence, O2 pulse flattening and exercise oscillatory ventilation
timeFrame: At baseline and before 36 months from baseline.
measure: CPET parameters- VO2/work slope
timeFrame: At baseline and before 36 months from baseline.
measure: Echocardiogram parameters- diastolic function at rest
timeFrame: At baseline and before 36 months from baseline.
measure: Echocardiogram parameters- systolic function of the left and right ventricle at rest
timeFrame: At baseline and before 36 months from baseline.
measure: Echocardiogram parameters- right ventricle-pulmonary artery coupling at rest.
timeFrame: At baseline and before 36 months from baseline.
measure: Echocardiogram parameters- exertional diastolic function
timeFrame: At baseline and before 36 months from baseline.
measure: CMR parameters - LV Mass and LV Max Wall Thickness
timeFrame: At baseline and before 36 months from baseline.
measure: CMR parameters - Systolic Function
timeFrame: At baseline and before 36 months from baseline.
measure: CMR parameters - T1 and T2 Mapping
timeFrame: At baseline and before 36 months from baseline.
measure: CMR parameters - presence of late gadolinium enhancement
timeFrame: At baseline and before 36 months from baseline.
measure: CMR parameters - ECV
timeFrame: At baseline and before 36 months from baseline.
Secondary outcomes:
measure: Incidence of Cardiovascular Events
timeFrame: Up to 7 years follow-up.
Other outcomes:
Locations:
city: San Donato Milanese
country: Italy
facility: IRCCS Policlinico San Donato
state: Milan
city: Brescia
country: Italy
facility: Spedali Civili Hospital
city: Milan
country: Italy
facility: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
city: Monza
country: Italy
facility: Fondazione IRCCS San Gerardo dei Tintori
city: Turin
country: Italy
facility: Regina Margherita Hospital
Study officials:
References:
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citation: Ditaranto R, Leone O, Lovato L, Niro F, Cenacchi G, Papa V, Baldovini C, Ferracin M, Salamon I, Kurdi H, Parisi V, Capelli I, Pession A, Liguori R, Potena L, Seri M, Martin Suarez S, Galie N, Moon JC, Biagini E. Correlations Between Cardiac Magnetic Resonance and Myocardial Histologic Findings in Fabry Disease. JACC Cardiovasc Imaging. 2023 Dec;16(12):1629-1632. doi: 10.1016/j.jcmg.2023.06.011. Epub 2023 Aug 2. No abstract available.
citation: Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart. 2007 Apr;93(4):528-35. doi: 10.1136/hrt.2005.063818. No abstract available.
citation: Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, Elliott PM, Hagege A, Kuusisto J, Linhart A, Nordbeck P, Olivotto I, Pietila-Effati P, Namdar M. Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week. J Am Coll Cardiol. 2021 Feb 23;77(7):922-936. doi: 10.1016/j.jacc.2020.12.024.