Anderson-Fabry DiseaseOPTIMA-FDNCT06884358
Functional Capacity in Anderson-Fabry Disease Patients
An observational study of Anderson-Fabry Disease, run by IRCCS Policlinico S. Donato at 5 sites in Italy.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Anderson-Fabry Disease
- How many people
- 100 participants
- Where
- 5 sitesItaly
- Study dates
- 13 Nov 2024to Jan 2032
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patient with AFD from Italian referral centers.
Who may be able to join
- 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- Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age 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).
Who cannot join
- 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 locations and contacts
5 sites in 1 country. Contact the study team or a site near you to ask about taking part.
5 sites in 1 country
Italy5 sites, 1 recruiting
- Active, not recruiting
Spedali Civili Hospital
Brescia, Brescia, 25123
- Active, not recruiting
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, Milan, 20122
- Active, not recruiting
Fondazione IRCCS San Gerardo dei Tintori
Monza, Monza, 20900
- Recruiting
IRCCS Policlinico San Donato
San Donato Milanese, Milan, 20097
Massimo Piepoli, MD, PhD, +39 0252774942, massimo.piepoli@grupposandonato.it
Massimo Piepoli
- Active, not recruiting
Regina Margherita Hospital
Turin, Turin, 10124
About this study
Official title: 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.
- Conditions
- Anderson-Fabry Disease
- Keywords
- Anderson-Fabry Disease, Cardiac Involvement, CMR, CPET
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
CPET parameters- peak Vo2
Peak VO2 ml/Kg/min
Measured: At baseline and before 36 months from baseline.
CPET parameters- predicted peak Vo2
Predicted peak VO2 (%).
Measured: At baseline and before 36 months from baseline.
CPET parameters- VE/VCO2 slope
VE/VCO2 slope
Measured: At baseline and before 36 months from baseline.
CPET parameters- oxygen pulse
02 pulse (ml/beat)
Measured: At baseline and before 36 months from baseline.
CPET parameters- heart rate during exercise
Heart rate reserve (beats/minute) Heart rate recovery (beat/minute) Heart rate recovery at one minute (beat/minute)
Measured: At baseline and before 36 months from baseline.
CPET parameters- presence of chronotropic incompetence, O2 pulse flattening and exercise oscillatory ventilation
Chronotropic incompetence (yes/no) 02 pulse flattening (yes/no) exercise oscillatory ventilation (yes/no)
Measured: At baseline and before 36 months from baseline.
CPET parameters- VO2/work slope
VO2/work slope (ml/min/watt)
Measured: At baseline and before 36 months from baseline.
Echocardiogram parameters- diastolic function at rest
At rest E/A ratio. At rest mean E/E'. At rest left atrial reservoir function (%). At rest sPAP (mmHg).
Measured: At baseline and before 36 months from baseline.
Echocardiogram parameters- systolic function of the left and right ventricle at rest
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 (%)
Measured: At baseline and before 36 months from baseline.
Echocardiogram parameters- right ventricle-pulmonary artery coupling at rest.
At rest TAPSE/sPAP (mm/mmHg)
Measured: At baseline and before 36 months from baseline.
Echocardiogram parameters- exertional diastolic function
exertional E/A, exertional mean E/E' exertional TAPE/sPAP (mm/mmHg) mPAP/CO (mmHg/L/min)
Measured: At baseline and before 36 months from baseline.
CMR parameters - LV Mass and LV Max Wall Thickness
LV mass (gr) and LV max wall thickness (mm).
Measured: At baseline and before 36 months from baseline.
CMR parameters - Systolic Function
Stroke volume indexed to body surface (ml/m2) and left ventricular ejection fraction (%).
Measured: At baseline and before 36 months from baseline.
CMR parameters - T1 and T2 Mapping
T1 and T2 mapping (msec).
Measured: At baseline and before 36 months from baseline.
CMR parameters - presence of late gadolinium enhancement
late gadolinium enhancement (yes/no)
Measured: At baseline and before 36 months from baseline.
CMR parameters - ECV
Extracellular volume (%)
Measured: 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.
Measured: Up to 7 years follow-up.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Mar 2025
- Study start13 Nov 2024
- Primary completionNov 2031 (estimated)
- Study completionJan 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Anderson-Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by IRCCS Policlinico S. DonatoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Policlinico S. Donato
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Massimo Piepoli, IRCCS Policlinico S. Donato
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06884358
- Sponsor's protocol ID
- OPTIMA-FD
- Acronym
- OPTIMA-FD
- Status last verified
- Jul 2026
- First submitted
- 27 Jan 2025
- Last updated
- 2 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Linhart A, Germain DP, Olivotto I, Akhtar MM, Anastasakis A, Hughes D, Namdar M, Pieroni M, Hagege A, Cecchi F, Gimeno JR, Limongelli G, Elliott P. An expert consensus document on the management of cardiovascular manifestations of Fabry disease. Eur J Heart Fail. 2020 Jul;22(7):1076-1096. doi: 10.1002/ejhf.1960. Epub 2020 Aug 14.
PubMed 32640076Reant P, Testet E, Reynaud A, Bourque C, Michaud M, Rooryck C, Goizet C, Lacombe D, de-Precigout V, Peyrou J, Cochet H, Lafitte S. Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping. Int J Cardiovasc Imaging. 2020 Jul;36(7):1333-1342. doi: 10.1007/s10554-020-01823-7. Epub 2020 May 8.
PubMed 32385539Bierer G, Kamangar N, Balfe D, Wilcox WR, Mosenifar Z. Cardiopulmonary exercise testing in Fabry disease. Respiration. 2005 Sep-Oct;72(5):504-11. doi: 10.1159/000087675.
PubMed 16210890Lobo T, Morgan J, Bjorksten A, Nicholls K, Grigg L, Centra E, Becker G. Cardiovascular testing in Fabry disease: exercise capacity reduction, chronotropic incompetence and improved anaerobic threshold after enzyme replacement. Intern Med J. 2008 Jun;38(6):407-14. doi: 10.1111/j.1445-5994.2008.01669.x.
PubMed 18613897Ditaranto 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.
PubMed 37542504Linhart 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.
PubMed 17401074Pieroni 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.
PubMed 33602475
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- FunctiOnal caPaciTy Evaluation Using cardIopulMonary Testing and Stress echocArdiography in Anderson-Fabry Disease Patients: OPTIMA-FD Study
- ClinicalTrials.gov ID
- NCT06884358
- Acronym / sponsor ID
- OPTIMA-FD / OPTIMA-FD
- Conditions
- Anderson-Fabry Disease
- Keywords
- Anderson-Fabry Disease, Cardiac Involvement, CMR, CPET
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- IRCCS Policlinico S. DonatoUniversity, hospital or other
- Study start
- 13 Nov 2024 (actual)
- Primary completion
- Nov 2031 (estimated)
- Study completion
- Jan 2032 (estimated)
- First posted
- 19 Mar 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient with AFD from Italian referral centers.
Key inclusion criteria (2 listed)
- 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).
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
CPET parameters- peak Vo2
Time frame: At baseline and before 36 months from baseline.
Peak VO2 ml/Kg/min
CPET parameters- predicted peak Vo2
Time frame: At baseline and before 36 months from baseline.
Predicted peak VO2 (%).
CPET parameters- VE/VCO2 slope
Time frame: At baseline and before 36 months from baseline.
VE/VCO2 slope
CPET parameters- oxygen pulse
Time frame: At baseline and before 36 months from baseline.
02 pulse (ml/beat)
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)
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)
CPET parameters- VO2/work slope
Time frame: At baseline and before 36 months from baseline.
VO2/work slope (ml/min/watt)
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).
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 (%)
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)
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)
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).
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 (%).
CMR parameters - T1 and T2 Mapping
Time frame: At baseline and before 36 months from baseline.
T1 and T2 mapping (msec).
CMR parameters - presence of late gadolinium enhancement
Time frame: At baseline and before 36 months from baseline.
late gadolinium enhancement (yes/no)
CMR parameters - ECV
Time frame: At baseline and before 36 months from baseline.
Extracellular volume (%)
1 secondary outcome
Incidence of Cardiovascular Events
Time frame: Up to 7 years follow-up.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jul 2026.
- Background: PubMed 32640076Linhart A, Germain DP, Olivotto I, Akhtar MM, Anastasakis A, Hughes D, Namdar M, Pieroni M, Hagege A, Cecchi F, Gimeno JR, Limongelli G, Elliott P. An expert consensus document on the management of cardiovascular manifestations of Fabry disease. Eur J Heart Fail. 2020 Jul;22(7):1076-1096. doi: 10.1002/ejhf.1960. Epub 2020 Aug 14.
- Background: PubMed 32385539Reant P, Testet E, Reynaud A, Bourque C, Michaud M, Rooryck C, Goizet C, Lacombe D, de-Precigout V, Peyrou J, Cochet H, Lafitte S. Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping. Int J Cardiovasc Imaging. 2020 Jul;36(7):1333-1342. doi: 10.1007/s10554-020-01823-7. Epub 2020 May 8.
- Background: PubMed 16210890Bierer G, Kamangar N, Balfe D, Wilcox WR, Mosenifar Z. Cardiopulmonary exercise testing in Fabry disease. Respiration. 2005 Sep-Oct;72(5):504-11. doi: 10.1159/000087675.
- Background: PubMed 18613897Lobo T, Morgan J, Bjorksten A, Nicholls K, Grigg L, Centra E, Becker G. Cardiovascular testing in Fabry disease: exercise capacity reduction, chronotropic incompetence and improved anaerobic threshold after enzyme replacement. Intern Med J. 2008 Jun;38(6):407-14. doi: 10.1111/j.1445-5994.2008.01669.x.
- Background: PubMed 37542504Ditaranto 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.
- Background: PubMed 17401074Linhart 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.
- Background: PubMed 33602475Pieroni 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.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Anderson-Fabry Disease, run by IRCCS Policlinico S. Donato at 5 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 2 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Massimo Piepoli, MD, PhD (+39 0252774942, massimo.piepoli@grupposandonato.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
CPET parameters- peak Vo2 (time frame: At baseline and before 36 months from baseline.). The study lists 16 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06884358, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2026.