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NCT Number: NCT06884358

Functional Capacity in Anderson-Fabry Disease Patients

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.

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Key information

Conditions

Anderson-Fabry Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Fabry Disease Genetic Diseases, Inborn Genetic Diseases, X-Linked Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Vascular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Spedali Civili Hospital, Brescia, Italy

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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  • Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age 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

Treatment and study plan

Primary outcomes

  1. CPET parameters- peak Vo2

    Time frame: At baseline and before 36 months from baseline.

    Peak VO2 ml/Kg/min

  2. CPET parameters- predicted peak Vo2

    Time frame: At baseline and before 36 months from baseline.

    Predicted peak VO2 (%).

  3. CPET parameters- VE/VCO2 slope

    Time frame: At baseline and before 36 months from baseline.

    VE/VCO2 slope

  4. CPET parameters- oxygen pulse

    Time frame: At baseline and before 36 months from baseline.

    02 pulse (ml/beat)

  5. CPET parameters- heart rate during exercise

    Time frame: At baseline and before 36 months from baseline.

    Heart rate reserve (beats/minute) Heart rate recovery (beat/minute) Heart rate recovery at one minute (beat/minute)

  6. CPET parameters- presence of chronotropic incompetence, O2 pulse flattening and exercise oscillatory ventilation

    Time frame: At baseline and before 36 months from baseline.

    Chronotropic incompetence (yes/no) 02 pulse flattening (yes/no) exercise oscillatory ventilation (yes/no)

  7. CPET parameters- VO2/work slope

    Time frame: At baseline and before 36 months from baseline.

    VO2/work slope (ml/min/watt)

  8. Echocardiogram parameters- diastolic function at rest

    Time frame: At baseline and before 36 months from baseline.

    At rest E/A ratio. At rest mean E/E'. At rest left atrial reservoir function (%). At rest sPAP (mmHg).

  9. Echocardiogram parameters- systolic function of the left and right ventricle at rest

    Time frame: At baseline and before 36 months from baseline.

    At rest TAPSE (mm) At rest LV ejection fraction (%) At rest LV stroke volume indexed for body mass surface (ml/mq) At rest right ventricular free wall strain (%)

  10. Echocardiogram parameters- right ventricle-pulmonary artery coupling at rest.

    Time frame: At baseline and before 36 months from baseline.

    At rest TAPSE/sPAP (mm/mmHg)

  11. Echocardiogram parameters- exertional diastolic function

    Time frame: At baseline and before 36 months from baseline.

    exertional E/A, exertional mean E/E' exertional TAPE/sPAP (mm/mmHg) mPAP/CO (mmHg/L/min)

  12. CMR parameters - LV Mass and LV Max Wall Thickness

    Time frame: At baseline and before 36 months from baseline.

    LV mass (gr) and LV max wall thickness (mm).

  13. CMR parameters - Systolic Function

    Time frame: At baseline and before 36 months from baseline.

    Stroke volume indexed to body surface (ml/m2) and left ventricular ejection fraction (%).

  14. CMR parameters - T1 and T2 Mapping

    Time frame: At baseline and before 36 months from baseline.

    T1 and T2 mapping (msec).

  15. CMR parameters - presence of late gadolinium enhancement

    Time frame: At baseline and before 36 months from baseline.

    late gadolinium enhancement (yes/no)

  16. CMR parameters - ECV

    Time frame: At baseline and before 36 months from baseline.

    Extracellular volume (%)

Secondary outcomes

  1. Incidence of Cardiovascular Events

    Time frame: Up to 7 years follow-up.

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

Gianluigi Guida, MD

CONTACT

[email protected]

+39 0252774942

Massimo Piepoli, MD, PhD

CONTACT

[email protected]

+39 0252774942

Sponsors and collaborators

Lead sponsor

IRCCS Policlinico S. Donato

Other

Registry information

Official study title

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

Acronym: OPTIMA-FD

Important dates

Study start
2024
Primary completion
2031
Study completion
2032
First posted
Mar 19, 2025
Registry last updated
Jul 2, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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