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

March 17, 2025 updated by: Massimo Piepoli, IRCCS Policlinico S. Donato

FunctiOnal CaPaciTy Evaluation Using CardIopulMonary Testing and Stress EchocArdiography in Anderson-Fabry Disease Patients: OPTIMA-FD Study

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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Italy
      • Brescia, Italy, 25123
        • Active, not recruiting
        • Spedali Civili Hospital
      • Milan, Italy, 20122
        • Active, not recruiting
        • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
      • Monza, Italy, 20900
        • Active, not recruiting
        • Fondazione IRCCS San Gerardo dei Tintori
      • Turin, Italy, 10124
        • Active, not recruiting
        • Regina Margherita Hospital
    • Milan
      • San Donato Milanese, Milan, Italy, 20097
        • Recruiting
        • IRCCS Policlinico San Donato
        • Contact:
        • Contact:
          • Massimo Piepoli

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patient with AFD from Italian referral centers.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Normal cardiac parameters and normal T1
AFD patients with normal cardiac parameters and normal T1.
Normal cardiac parameters and reduced T1
AFD patients with no LVH and myocardial reduced T1 .
LVH without LGE
Patients with LVH without LGE.
Advanced cardiomyopathy with LVH and LGE
AFD patients with advanced cardiomyopathy with LVH and LGE.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
CPET parameters- peak Vo2
Time Frame: At baseline and before 36 months from baseline.
Peak VO2 ml/Kg/min
At baseline and before 36 months from baseline.
CPET parameters- predicted peak Vo2
Time Frame: At baseline and before 36 months from baseline.
Predicted peak VO2 (%).
At baseline and before 36 months from baseline.
CPET parameters- VE/VCO2 slope
Time Frame: At baseline and before 36 months from baseline.
VE/VCO2 slope
At baseline and before 36 months from baseline.
CPET parameters- oxygen pulse
Time Frame: At baseline and before 36 months from baseline.
02 pulse (ml/beat)
At baseline and before 36 months from baseline.
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)
At baseline and before 36 months from baseline.
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)
At baseline and before 36 months from baseline.
CPET parameters- VO2/work slope
Time Frame: At baseline and before 36 months from baseline.
VO2/work slope (ml/min/watt)
At baseline and before 36 months from baseline.
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).
At baseline and before 36 months from baseline.
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 (%)
At baseline and before 36 months from baseline.
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)
At baseline and before 36 months from baseline.
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)
At baseline and before 36 months from baseline.
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).
At baseline and before 36 months from baseline.
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 (%).
At baseline and before 36 months from baseline.
CMR parameters - T1 and T2 Mapping
Time Frame: At baseline and before 36 months from baseline.
T1 and T2 mapping (msec).
At baseline and before 36 months from baseline.
CMR parameters - presence of late gadolinium enhancement
Time Frame: At baseline and before 36 months from baseline.
late gadolinium enhancement (yes/no)
At baseline and before 36 months from baseline.
CMR parameters - ECV
Time Frame: At baseline and before 36 months from baseline.
Extracellular volume (%)
At baseline and before 36 months from baseline.

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Up to 7 years follow-up.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

IRCCS Policlinico S. Donato

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 13, 2024

Primary Completion (Estimated)

November 1, 2031

Study Completion (Estimated)

January 1, 2032

Study Registration Dates

First Submitted

January 27, 2025

First Submitted That Met QC Criteria

March 17, 2025

First Posted (Actual)

March 25, 2025

Study Record Updates

Last Update Posted (Actual)

March 25, 2025

Last Update Submitted That Met QC Criteria

March 17, 2025

Last Verified

January 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • OPTIMA-FD

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Anderson-Fabry Disease

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Mauritius

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe