Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
100 participants
OBSERVATIONAL
2024-11-13
2032-01-31
Brief Summary
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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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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Normal cardiac parameters and normal T1
AFD patients with normal cardiac parameters and normal T1.
No interventions assigned to this group
Normal cardiac parameters and reduced T1
AFD patients with no LVH and myocardial reduced T1 .
No interventions assigned to this group
LVH without LGE
Patients with LVH without LGE.
No interventions assigned to this group
Advanced cardiomyopathy with LVH and LGE
AFD patients with advanced cardiomyopathy with LVH and LGE.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age \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
* 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.
ALL
No
Sponsors
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IRCCS Policlinico S. Donato
OTHER
Responsible Party
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Massimo Piepoli
MD, PhD
Locations
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Spedali Civili Hospital
Brescia, Brescia, Italy
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, Milan, Italy
IRCCS Policlinico San Donato
San Donato Milanese, Milan, Italy
Fondazione IRCCS San Gerardo dei Tintori
Monza, Monza, Italy
Regina Margherita Hospital
Turin, Turin, Italy
Countries
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Central Contacts
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Facility Contacts
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References
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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.
Reant 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.
Bierer 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.
Lobo 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.
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.
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.
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.
Other Identifiers
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OPTIMA-FD
Identifier Type: -
Identifier Source: org_study_id
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