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Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
- Source :
- Scientia, Repositório Institucional da UFRGS, Universidade Federal do Rio Grande do Sul (UFRGS), instacron:UFRGS
- Publication Year :
- 2022
- Publisher :
- BMC, 2022.
-
Abstract
- Agalsidase alfa; Cardiovascular outcomes; Renal outcomes Agalsidasa alfa; Resultados cardiovasculares; Resultados renales Agalsidasa alfa; Resultats cardiovasculars; Resultats renals Background Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 marks the 20th anniversary of the Fabry Outcome Survey (FOS), an international, multicenter, observational registry (NCT03289065). The primary aims of FOS are to broaden the understanding of Fabry disease (FD), an X-linked lysosomal storage disorder, and to improve the clinical management of affected patients. Here, we review the history of FOS and the analyses and publications disseminated from the registry, and we discuss the contributions FOS studies have made in understanding FD. Results FOS was initiated in April 2001 and, as of January 2021, 4484 patients with a confirmed diagnosis and patient informed consent have been enrolled from 144 centers across 26 countries. Data from FOS have been published in nearly 60 manuscripts on a wide variety of topics relevant to FD. Analyses of FOS data have investigated the long-term effectiveness and safety of enzyme replacement therapy (ERT) with agalsidase alfa and its effects on morbidity and mortality, as well as the benefits of prompt and early treatment with agalsidase alfa on the progression of cardiomyopathy and the decline in renal function associated with FD. Based on analyses of FOS data, ERT with agalsidase alfa has also been shown to improve additional signs and symptoms of FD experienced by patients. FOS data analyses have provided a better understanding of the natural history of FD and the specific populations of women, children, and the elderly, and have provided practical tools for the study of FD. FOS has also provided methodology and criteria for assessing disease severity which contributed to the continuous development of medical practice in FD and has largely improved our understanding of the challenges and needs of long-term data collection in rare diseases, aiding in future rare disease real-world evidence studies. Conclusion FOS over the last 20 years has substantially increased the scientific knowledge around improved patient management of FD and continues to expand our understanding of this rare disease. FOS is funded by Takeda Pharmaceuticals International AG, which also assisted in analyzing the data and preparing the manuscript. Takeda Development Center Americas, Inc. provided funding to Excel Medical Affairs for support in writing and editing this manuscript.
- Subjects :
- Cardiovascular outcomes
técnicas de investigación::métodos epidemiológicos::recopilación de datos::sistema de registros [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS]
Terapia de reposição de enzimas
Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores]
Metabolisme - Trastorns - Tractament
enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedades nutricionales y metabólicas::enfermedades metabólicas::trastornos del metabolismo de los lípidos::lipidosis::esfingolipidosis::enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedad de Fabry [ENFERMEDADES]
Doenças por armazenamento dos lisossomos
Other subheadings::Other subheadings::/drug therapy [Other subheadings]
Doença de Fabry
Rare Diseases
Nutritional and Metabolic Diseases::Metabolic Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Lipid Metabolism Disorders::Lipidoses::Sphingolipidoses::Nutritional and Metabolic Diseases::Metabolic Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Fabry Disease [DISEASES]
Humans
Multicenter Studies as Topic
Enzyme Replacement Therapy
Pharmacology (medical)
Registries
Malalties rares - Tractament
terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS]
Child
Agalsidase alfa
Genetics (clinical)
Aged
Fabry disease
Enzims - Ús terapèutic
General Medicine
Renal outcomes
Investigative Techniques::Epidemiologic Methods::Data Collection::Registries [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT]
Recombinant Proteins
Treatment Outcome
alpha-Galactosidase
Enzyme replacement therapy
Fabry Disease
Female
Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT]
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Scientia, Repositório Institucional da UFRGS, Universidade Federal do Rio Grande do Sul (UFRGS), instacron:UFRGS
- Accession number :
- edsair.doi.dedup.....7448f1ad752c81b15061be3402c9f04f