Global research on Fabry's disease: Demands for a rare disease
Abstract Background Fabry disease (FD), the second most prevalent lysosomal storage disorder, is classified as a rare disease. It often leads to significant quality of life impairments and premature death. Many cases remain undiagnosed due to the rarity and heterogeneity. Further, costs related to t...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-09-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1163 |
| _version_ | 1827345749546893312 |
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| author | Doris Klingelhöfer Markus Braun Rebekka K. Seeger‐Zybok David Quarcoo Dörthe Brüggmann David A. Groneberg |
| author_facet | Doris Klingelhöfer Markus Braun Rebekka K. Seeger‐Zybok David Quarcoo Dörthe Brüggmann David A. Groneberg |
| author_sort | Doris Klingelhöfer |
| collection | DOAJ |
| description | Abstract Background Fabry disease (FD), the second most prevalent lysosomal storage disorder, is classified as a rare disease. It often leads to significant quality of life impairments and premature death. Many cases remain undiagnosed due to the rarity and heterogeneity. Further, costs related to treatment often constitute a substantial financial burden for patients and health systems. While its epidemiology is still unclear, newborn screenings suggest that its actual prevalence rate is significantly higher than previously suspected. Methods Based on well‐established methodologies, this study gives an overview about the background of the development of FD‐related research and provides a critical view of future needs. Results On the grounds of benchmarking findings, an increasing research activity on FD can be observed. Most publishing countries are the USA, some European countries, Japan, Taiwan, and South Korea. In general, high‐income countries publish comparably more on FD than low‐ or middle‐income economies. The countries' financial and infrastructural background are unveiled as crucial factors for the FD research activity. Conclusions Overall, there is a need to foster FD research infrastructure in developing and emerging countries with focus on cost‐intensive genetic research that is independent from economic interests of big pharmaceutical companies. |
| first_indexed | 2024-03-07T23:17:08Z |
| format | Article |
| id | doaj.art-92c28d78201f4006849a4d533c1425f4 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:17:08Z |
| publishDate | 2020-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-92c28d78201f4006849a4d533c1425f42024-02-21T10:24:50ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-09-0189n/an/a10.1002/mgg3.1163Global research on Fabry's disease: Demands for a rare diseaseDoris Klingelhöfer0Markus Braun1Rebekka K. Seeger‐Zybok2David Quarcoo3Dörthe Brüggmann4David A. Groneberg5Institute of Occupational, Social and Environmental Medicine Goethe University Frankfurt GermanyInstitute of Occupational, Social and Environmental Medicine Goethe University Frankfurt GermanyInstitute of Occupational, Social and Environmental Medicine Goethe University Frankfurt GermanyInstitute of Occupational, Social and Environmental Medicine Goethe University Frankfurt GermanyInstitute of Occupational, Social and Environmental Medicine Goethe University Frankfurt GermanyInstitute of Occupational, Social and Environmental Medicine Goethe University Frankfurt GermanyAbstract Background Fabry disease (FD), the second most prevalent lysosomal storage disorder, is classified as a rare disease. It often leads to significant quality of life impairments and premature death. Many cases remain undiagnosed due to the rarity and heterogeneity. Further, costs related to treatment often constitute a substantial financial burden for patients and health systems. While its epidemiology is still unclear, newborn screenings suggest that its actual prevalence rate is significantly higher than previously suspected. Methods Based on well‐established methodologies, this study gives an overview about the background of the development of FD‐related research and provides a critical view of future needs. Results On the grounds of benchmarking findings, an increasing research activity on FD can be observed. Most publishing countries are the USA, some European countries, Japan, Taiwan, and South Korea. In general, high‐income countries publish comparably more on FD than low‐ or middle‐income economies. The countries' financial and infrastructural background are unveiled as crucial factors for the FD research activity. Conclusions Overall, there is a need to foster FD research infrastructure in developing and emerging countries with focus on cost‐intensive genetic research that is independent from economic interests of big pharmaceutical companies.https://doi.org/10.1002/mgg3.1163alpha‐galactosidase A deficiencyAnderson–Fabryangiokeratoma diffusebibliometricsGLA deficiencyhereditary dystopic lipidosis |
| spellingShingle | Doris Klingelhöfer Markus Braun Rebekka K. Seeger‐Zybok David Quarcoo Dörthe Brüggmann David A. Groneberg Global research on Fabry's disease: Demands for a rare disease Molecular Genetics & Genomic Medicine alpha‐galactosidase A deficiency Anderson–Fabry angiokeratoma diffuse bibliometrics GLA deficiency hereditary dystopic lipidosis |
| title | Global research on Fabry's disease: Demands for a rare disease |
| title_full | Global research on Fabry's disease: Demands for a rare disease |
| title_fullStr | Global research on Fabry's disease: Demands for a rare disease |
| title_full_unstemmed | Global research on Fabry's disease: Demands for a rare disease |
| title_short | Global research on Fabry's disease: Demands for a rare disease |
| title_sort | global research on fabry s disease demands for a rare disease |
| topic | alpha‐galactosidase A deficiency Anderson–Fabry angiokeratoma diffuse bibliometrics GLA deficiency hereditary dystopic lipidosis |
| url | https://doi.org/10.1002/mgg3.1163 |
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