Registry for understanding cardiovascular issues in Fabry Disease
Official title: Italian Anderson Fabry Disease Cardiovascular Registry
Run by IRCCS Azienda Ospedaliero-Universitaria di Bologna · NCT06806813 · Data updated 2026-11-12
This study is trying to learn more about heart problems in people with Fabry Disease to help improve their care and outcomes.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 2 Years and up |
| Sex | All |
| Enrollment | 800 (estimated) |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna Academic / other |
| Locations | 54 sites (Chieti, Abruzzo/Chieti and 53 other locations) |
| Status | Recruiting |
| Started | January 26, 2022 |
| Main results expected | January 31, 2031 |
| Study ends | December 31, 2031 |
| Registry record updated | February 4, 2025 |
| Trial ID | NCT06806813 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are patients diagnosed with Anderson Fabry Disease who are aged 2 years or older.
✕Probably not a fit
Patients who do not have a diagnosis of Anderson Fabry Disease will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
The RICMAF Study is an observational, multicenter initiative in Italy aimed at improving the understanding of Anderson-Fabry Disease (AFD), particularly its cardiac manifestations. By collecting data from a nationwide patient registry, the study seeks to analyze the clinical profile, prevalence, and incidence of AFD, as well as identify early markers of cardiac involvement and predictors of cardiovascular complications. The study also aims to explore the relationship between genetic mutations and clinical presentation to enhance personalized care for patients. This comprehensive approach is designed to improve patient outcomes through better understanding and management of the disease.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and management of Fabry Disease, particularly in preventing cardiovascular complications.
How similar studies have gone: Other studies focusing on the clinical aspects of rare diseases like Fabry Disease have shown promise, indicating that this approach may yield valuable insights.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients diagnosed with Anderson Fabry disease * Age ≥ 2 years at diagnosis * Obtaining informed consent from the patient and parent or legal guardian. Exclusion Criteria: \- None
Where it's running
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IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, EmiliaRomagna/Bologna, Italy Recruiting -
ASST Papa Giovanni XXIII
Bergamo, Lombardia/Bergamo, Italy Recruiting -
Centro Cardiologico Monzino
Milan, Lombardia/Milano, Italy Recruiting -
A O Universitaria Ospedali Riuniti Ancona
Ancona, Marche/Ancona, Italy Recruiting -
AO Dei Colli - Ospedale Monaldi
Naples, Napoli, Italy Recruiting -
Molinette
Torino, Piemonte/Torino, Italy Recruiting
Show 44 more locations
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Policlinico Bari
Bari, Puglia/Bari, Italy Recruiting -
Ospedale SS.ma Annunziata
Taranto, Puglia/Taranto, Italy Recruiting -
Arcispedale S.Maria Nuova
Reggio Emilia, Reggio Emilia, Italy Recruiting -
Policlinico Gemelli
Roma, Roma, Italy Recruiting -
Policlinico Rodolico
Catania, Sicilia/Catania, Italy Recruiting -
Azienda Ospedaliero Universitaria Careggi e Meyer
Florence, Toscana/Firenze, Italy Recruiting -
Fondazione Toscana Gabriele Monasterio
Pisa, Toscana/Pisa, Italy Recruiting -
Ospedale di Perugia
Perugia, Umbria/Perugia, Italy Recruiting -
Ospedale Padova
Padova, Veneto/Padova, Italy Recruiting -
ASL 2 Chieti - Ospedale Policlinico SS. Annunziata
Chieti, Abruzzo/Chieti, Italy Not yet recruiting -
Azienda Ospedaliera Regionale S.Carlo
Potenza, Basilicata/Potenza, Italy Not yet recruiting -
AORN "Sant'Anna e San Sebastiano" di Caserta
Caserta, Caserta, Italy Not yet recruiting -
Azienda Ospedaliero - Universitaria "Mater Domini
Catanzaro, Catanzaro, Italy Not yet recruiting -
Azienda Ospedaliera di Cosenza Università della Calabria
Cosenza, Cosenza, Italy Not yet recruiting -
IRCCS Ospedale Policlinico San Martino
Genova, Genova, Italy Not yet recruiting -
U.O.Cardiologia Spetali Civili 1
Brescia, Lombardia/Brescia, Italy Not yet recruiting -
IRCCS Ospedale Maggiore Policlinico di Milano
Milan, Lombardia/Milano, Italy Not yet recruiting -
IRCCS San Gerardo dei Tintori - S.C. Nefrologia, Monza - Università di Milano Bicocca
Milan, Lombardia/Milano, Italy Not yet recruiting -
Ospedale Niguarda
Milan, Lombardia/Milano, Italy Not yet recruiting -
IRCCS Policlinico San Donato
San Donato Milanese, Lombardia/Milano, Italy Not yet recruiting -
Clinica cardiologica AZ ospedaliera Torrette
Ancona, Marche/Ancona, Italy Not yet recruiting -
AOU Policlinico
Naples, Napoli, Italy Not yet recruiting -
Azienda Ospedaliero-Universitaria di Parma
Parma, Parma, Italy Not yet recruiting -
Azienda Ospedaliera "Guglielmo da Saliceto" di Piacenza
Piacenza, Piacenza, Italy Not yet recruiting -
Ospedale Ivrea
Ivrea, Piemonte/Ivrea, Italy Not yet recruiting -
Ospedale Maggiore della Carità
Novara, Piemonte/Novara, Italy Not yet recruiting -
Ospedale Koelliker di Torino
Torino, Piemonte/Torino, Italy Not yet recruiting -
A O Universitaria Ospedali Riuniti di Foggia
Foggia, Puglia/Foggia, Italy Not yet recruiting -
Ospedale Casa Sollievo della sofferenza
Manfredonia, Puglia/Foggia, Italy Not yet recruiting -
Ospedale Vito Fazzi
Lecce, Puglia/Lecce, Italy Not yet recruiting -
Ospedale Metropolitano Riuniti "Bianchi - Melacrino - Morelli
Reggio Calabria, Reggio Calabria, Italy Not yet recruiting -
Ospedale degli Infermi di Rimini, AUSL Romagna
Rimini, Rimini, Italy Not yet recruiting -
Policlinico "Tor Vergata"
Roma, Roma, Italy Not yet recruiting -
Policlinico Umberto I - Università Sapienza
Roma, Roma, Italy Not yet recruiting -
Policlinico Casilino
Roma, Roma, Italy Not yet recruiting -
Ospedale Sant'Andrea
Roma, Roma, Italy Not yet recruiting -
San Camillo Forlanini
Roma, Roma, Italy Not yet recruiting -
Ospedale S.Giovanni di Dio e Ruggì d'Aragona
Salerno, Salerno, Italy Not yet recruiting -
Azienda Ospedaliera G. Brotzu
Cagliari, Sardegna/Cagliari, Italy Not yet recruiting -
Azienda Ospedaliera Universitaria
Cagliari, Sardegna/Cagliari, Italy Not yet recruiting -
Policlinico G. Martino
Messina, Sicilia/Messina, Italy Not yet recruiting -
Policlinico P. Giaccone
Palermo, Sicilia/Palermo, Italy Not yet recruiting -
Ospedale San Donato
Arezzo, Toscana/Arezzo, Italy Not yet recruiting -
Azienda Ospedaliera Universitaria Siena
Siena, Toscana/Siena, Italy Not yet recruiting
+4 more sites. See ClinicalTrials.gov for the full list.
Study contacts
- Principal investigator: Elena Biagini, MD, PhD — IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Study coordinator: Elena Biagini, MD, PhD
- Email: elena.biagini@aosp.bo.it
- Phone: +39051214483
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Lucerastat in untreated adult men with Fabry disease shows how well it works and safety
This study tests lucerastat to see if it can reduce Gb3 buildup and be safe in untreated adult men with Fabry disease.
-
Periodontal Health in Rare Kidney Conditions and Controls
This study tests how common periodontitis is in people with rare kidney disorders and compares it to CKD patients and people without kidney disease.
-
Anderson-Fabry disease fitness improvement program
This study tests whether a 12-week physiotherapy-led exercise program can improve function, fitness, strength, and quality of life in adults with Fabry disease.
-
Using advanced heart MRI to improve diagnosis and risk prediction for rare cardiomyopathies
This project tests whether advanced cardiac MRI techniques can help diagnose and predict future risk for people with rare heart muscle diseases like Danon, Fabry, cardiac amyloidosis, Noonan syndrome, and cardiac sarcoidosis.
-
Quality of life for people 65+ with Fabry disease, treated or untreated
This project will see if starting or continuing Fabry disease treatment changes quality of life over two and five years in people aged 65 and older.
-
Agalsidase alfa for heart inflammation in Fabry disease measured by PET‑CMR
This study will test whether agalsidase alfa reduces heart inflammation in people with Fabry disease by comparing PET‑CMR scans before and after 12 months of treatment.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.