Emerging therapeutic strategies for cystinosis
For over 40 years, oral cysteamine has been the mainstay of therapy for cystinosis. While it has been of great benefit, slowing organ deterioration and prolonging life, cysteamine is not well tolerated and may not rescue all pathogenic mechanisms driving the disease. Of late, research groups around...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1601409/full |
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| author | Paul Goodyer Paul Goodyer Elena Torban Elena Torban |
| author_facet | Paul Goodyer Paul Goodyer Elena Torban Elena Torban |
| author_sort | Paul Goodyer |
| collection | DOAJ |
| description | For over 40 years, oral cysteamine has been the mainstay of therapy for cystinosis. While it has been of great benefit, slowing organ deterioration and prolonging life, cysteamine is not well tolerated and may not rescue all pathogenic mechanisms driving the disease. Of late, research groups around the world have been pursuing various novel therapeutic strategies. Here we select just four of many examples - two that address events downstream of the missing Cystinosin protein and two that aim to address the upstream CTNS mutation. Our aim is to update the cystinosis community on some of the exciting work in progress. We have drawn from preliminary reports and oral presentations at cystinosis meetings. While each approach requires further work and critical analysis, the sheer number and variety of these potential therapies is cause for hope. |
| format | Article |
| id | doaj-art-349b410238da4fc2a71068bf96330e2b |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-349b410238da4fc2a71068bf96330e2b2025-08-20T03:47:28ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-05-011310.3389/fped.2025.16014091601409Emerging therapeutic strategies for cystinosisPaul Goodyer0Paul Goodyer1Elena Torban2Elena Torban3Department of Pediatrics, McGill University, Montréal, QC, CanadaResearchInstitute of the McGill University Health Centre, Montréal, QC, CanadaResearchInstitute of the McGill University Health Centre, Montréal, QC, CanadaDepartment of Medicine, McGill University, Montréal, QC, CanadaFor over 40 years, oral cysteamine has been the mainstay of therapy for cystinosis. While it has been of great benefit, slowing organ deterioration and prolonging life, cysteamine is not well tolerated and may not rescue all pathogenic mechanisms driving the disease. Of late, research groups around the world have been pursuing various novel therapeutic strategies. Here we select just four of many examples - two that address events downstream of the missing Cystinosin protein and two that aim to address the upstream CTNS mutation. Our aim is to update the cystinosis community on some of the exciting work in progress. We have drawn from preliminary reports and oral presentations at cystinosis meetings. While each approach requires further work and critical analysis, the sheer number and variety of these potential therapies is cause for hope.https://www.frontiersin.org/articles/10.3389/fped.2025.1601409/fullcystinosistherapeutic strategiesmRNApro-druggene therapyflavinoids |
| spellingShingle | Paul Goodyer Paul Goodyer Elena Torban Elena Torban Emerging therapeutic strategies for cystinosis Frontiers in Pediatrics cystinosis therapeutic strategies mRNA pro-drug gene therapy flavinoids |
| title | Emerging therapeutic strategies for cystinosis |
| title_full | Emerging therapeutic strategies for cystinosis |
| title_fullStr | Emerging therapeutic strategies for cystinosis |
| title_full_unstemmed | Emerging therapeutic strategies for cystinosis |
| title_short | Emerging therapeutic strategies for cystinosis |
| title_sort | emerging therapeutic strategies for cystinosis |
| topic | cystinosis therapeutic strategies mRNA pro-drug gene therapy flavinoids |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1601409/full |
| work_keys_str_mv | AT paulgoodyer emergingtherapeuticstrategiesforcystinosis AT paulgoodyer emergingtherapeuticstrategiesforcystinosis AT elenatorban emergingtherapeuticstrategiesforcystinosis AT elenatorban emergingtherapeuticstrategiesforcystinosis |