Italian Anderson Fabry Disease Cardiovascular Registry
RICMAF
1 other identifier
observational
800
1 country
54
Brief Summary
The RICMAF Study is an observational, multicenter, non-pharmacological study conducted in Italy. Although Anderson-Fabry Disease (AFD) is rare, it is likely underdiagnosed due to its nonspecific symptoms, leading to delays in proper treatment. The RICMAF Study aims to improve understanding of AFD, especially its cardiac manifestations, which are a major cause of mortality. By gathering data from a large, nationwide patient registry, this study seeks to answer key questions about AFD's clinical course and improve patient outcomes. The primary goals of the RICMAF Study are:
- To analyze the clinical profile, prevalence, and incidence of AFD, along with patients' family history and disease progression.
- To identify early markers of cardiac involvement and predictors of cardiovascular complications to personalize care.
- To investigate the relationship between genetic mutations, clinical presentation, and prognosis.
- To find early indicators of organ damage through laboratory and imaging tests. All patients diagnosed with AFD following international guidelines are eligible.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jan 2022
Longer than P75 for all trials
54 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
January 26, 2022
CompletedFirst Submitted
Initial submission to the registry
January 9, 2025
CompletedFirst Posted
Study publicly available on registry
February 4, 2025
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 31, 2031
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 31, 2031
February 4, 2025
November 1, 2024
9 years
January 9, 2025
January 28, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Definition of Fabry disease natural history
* Prevalence of Fabry disease: number of diagnosed cases of Fabry disease per 100,000 individuals in the general population. * Incidence of Fabry disease: number of new cases of Fabry disease per year per 100,000 individuals in the general population. * Number of patients with morbidity (heart failure, arrhythmias, kidney failure, stroke) and mortality (cardiac and non cardiac death) events recorded during follow-up.
From enrollment to mean follow-up of 5 years.
Secondary Outcomes (3)
Fabry disease cardiac risk stratification
From enrollment to mean follow-up of 5 years.
Correlation between genotype and cardiac involvement (ECG changes, LVH, T1/T2 mapping)/cardiac events.
From enrollment to mean follow-up of 5 years.
Identification of biomarkers for early diagnosis in Fabry disease
From enrollment to mean follow-up of 5 years.
Eligibility Criteria
All patients affected by AFD, diagnosed according to current international guidelines, will be included in the study, after obtaining free and informed consent. The study plans, based on the estimated prevalence of the disease, to enroll approximately 800 patients over the course of 10 years.
You may qualify if:
- Patients diagnosed with Anderson Fabry disease
- Age ≥ 2 years at diagnosis
- Obtaining informed consent from the patient and parent or legal guardian.
You may not qualify if:
- \- None
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (54)
ASL 2 Chieti - Ospedale Policlinico SS. Annunziata
Chieti, Abruzzo/Chieti, 66100, Italy
Azienda Ospedaliera Regionale S.Carlo
Potenza, Basilicata/Potenza, 85100, Italy
AORN "Sant'Anna e San Sebastiano" di Caserta
Caserta, Caserta, 81100, Italy
Azienda Ospedaliero - Universitaria "Mater Domini
Catanzaro, Catanzaro, 88100, Italy
Azienda Ospedaliera di Cosenza Università della Calabria
Cosenza, Cosenza, 87100, Italy
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, EmiliaRomagna/Bologna, 40138, Italy
IRCCS Ospedale Policlinico San Martino
Genova, Genova, Italy
ASST Papa Giovanni XXIII
Bergamo, Lombardia/Bergamo, 24127, Italy
U.O.Cardiologia Spetali Civili 1
Brescia, Lombardia/Brescia, 25123, Italy
IRCCS Ospedale Maggiore Policlinico di Milano
Milan, Lombardia/Milano, 20122, Italy
IRCCS San Gerardo dei Tintori - S.C. Nefrologia, Monza - Università di Milano Bicocca
Milan, Lombardia/Milano, 20126, Italy
Centro Cardiologico Monzino
Milan, Lombardia/Milano, 20138, Italy
Ospedale Niguarda
Milan, Lombardia/Milano, 20162, Italy
IRCCS Policlinico San Donato
San Donato Milanese, Lombardia/Milano, 20097, Italy
A O Universitaria Ospedali Riuniti Ancona
Ancona, Marche/Ancona, 60126, Italy
Clinica cardiologica AZ ospedaliera Torrette
Ancona, Marche/Ancona, 60126, Italy
AO Dei Colli - Ospedale Monaldi
Napoli, Napoli, 80131, Italy
AOU Policlinico
Napoli, Napoli, 80131, Italy
Azienda Ospedaliero-Universitaria di Parma
Parma, Parma, 43126, Italy
Azienda Ospedaliera "Guglielmo da Saliceto" di Piacenza
Piacenza, Piacenza, 29121, Italy
Ospedale Ivrea
Ivrea, Piemonte/Ivrea, 10015, Italy
Ospedale Maggiore della Carità
Novara, Piemonte/Novara, 28100, Italy
Molinette
Torino, Piemonte/Torino, 10134, Italy
Ospedale Koelliker di Torino
Torino, Piemonte/Torino, 10134, Italy
Policlinico Bari
Bari, Puglia/Bari, 70124, Italy
A O Universitaria Ospedali Riuniti di Foggia
Foggia, Puglia/Foggia, 71122, Italy
Ospedale Casa Sollievo della sofferenza
Manfredonia, Puglia/Foggia, 71043, Italy
Ospedale Vito Fazzi
Lecce, Puglia/Lecce, 73100, Italy
Ospedale SS.ma Annunziata
Taranto, Puglia/Taranto, 74010, Italy
Ospedale Metropolitano Riuniti "Bianchi - Melacrino - Morelli
Reggio Calabria, Reggio Calabria, Italy
Arcispedale S.Maria Nuova
Reggio Emilia, Reggio Emilia, 42123, Italy
Ospedale degli Infermi di Rimini, AUSL Romagna
Rimini, Rimini, 47923, Italy
Policlinico "Tor Vergata"
Roma, Roma, 00133, Italy
Policlinico Gemelli
Roma, Roma, 00136, Italy
Policlinico Umberto I - Università Sapienza
Roma, Roma, 00161, Italy
Policlinico Casilino
Roma, Roma, 00169, Italy
Ospedale Sant'Andrea
Roma, Roma, 00189, Italy
San Camillo Forlanini
Roma, Roma, Italy
Ospedale S.Giovanni di Dio e Ruggì d'Aragona
Salerno, Salerno, 84131, Italy
Azienda Ospedaliera G. Brotzu
Cagliari, Sardegna/Cagliari, 09121, Italy
Azienda Ospedaliera Universitaria
Cagliari, Sardegna/Cagliari, 09124, Italy
Policlinico Rodolico
Catania, Sicilia/Catania, 95123, Italy
Policlinico G. Martino
Messina, Sicilia/Messina, 98125, Italy
Policlinico P. Giaccone
Palermo, Sicilia/Palermo, 90127, Italy
Ospedale San Donato
Arezzo, Toscana/Arezzo, 52100, Italy
Azienda Ospedaliero Universitaria Careggi e Meyer
Florence, Toscana/Firenze, 50139, Italy
Fondazione Toscana Gabriele Monasterio
Pisa, Toscana/Pisa, 56126, Italy
Azienda Ospedaliera Universitaria Siena
Siena, Toscana/Siena, 53100, Italy
Ospedale S.Chiara
Trento, Trentino Alto Adige/Trento, 38123, Italy
Azienda sanitaria universitaria Giuliano Isontina
Trieste, Triesta, 34170, Italy
Azienda sanitaria universitaria Friuli Centrale
Udine, Udine, 33100, Italy
Ospedale di Perugia
Perugia, Umbria/Perugia, 06129, Italy
Ospedale Padova
Padua, Veneto/Padova, 35128, Italy
Ospedale Policlinico Sede di Borgo Roma
Verona, Veneto/Verona, 37126, Italy
Related Publications (7)
Nordin S, Kozor R, Medina-Menacho K, Abdel-Gadir A, Baig S, Sado DM, Lobascio I, Murphy E, Lachmann RH, Mehta A, Edwards NC, Ramaswami U, Steeds RP, Hughes D, Moon JC. Proposed Stages of Myocardial Phenotype Development in Fabry Disease. JACC Cardiovasc Imaging. 2019 Aug;12(8 Pt 2):1673-1683. doi: 10.1016/j.jcmg.2018.03.020. Epub 2018 May 16.
PMID: 29778854BACKGROUNDPieroni 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.
PMID: 33602475BACKGROUNDLinhart 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.
PMID: 32640076BACKGROUNDGermain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.
PMID: 27509102BACKGROUNDBiegstraaten M, Arngrimsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tondel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6.
PMID: 25885911BACKGROUNDOrtiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28.
PMID: 29530533BACKGROUNDZarate YA, Hopkin RJ. Fabry's disease. Lancet. 2008 Oct 18;372(9647):1427-35. doi: 10.1016/S0140-6736(08)61589-5.
PMID: 18940466BACKGROUND
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Elena Biagini, MD, PhD
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- OTHER
- Time Perspective
- OTHER
- Target Duration
- 10 Years
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
January 9, 2025
First Posted
February 4, 2025
Study Start
January 26, 2022
Primary Completion (Estimated)
January 31, 2031
Study Completion (Estimated)
December 31, 2031
Last Updated
February 4, 2025
Record last verified: 2024-11