Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine
Background: Cystinosis is a metabolic disease caused by intracellular accumulation of cystine within lysosomes. Development of symptoms can be delayed significantly by a life-long therapy with cysteamine, a drug that enters the lysosome and reacts with cystine thereby enabling its export from the or...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-09-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426920300665 |
| _version_ | 1818112929886633984 |
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| author | Simone Linden Sabrina Klank Erik Harms Marianne Grüneberg Julien H. Park Thorsten Marquardt |
| author_facet | Simone Linden Sabrina Klank Erik Harms Marianne Grüneberg Julien H. Park Thorsten Marquardt |
| author_sort | Simone Linden |
| collection | DOAJ |
| description | Background: Cystinosis is a metabolic disease caused by intracellular accumulation of cystine within lysosomes. Development of symptoms can be delayed significantly by a life-long therapy with cysteamine, a drug that enters the lysosome and reacts with cystine thereby enabling its export from the organelle. Methods: During a period of 16 years, blood samples of 330 cystinosis patients were analyzed to investigate therapeutic adherence and metabolic control in patients treated with immediate-release cysteamine. The accepted therapeutic goal is to measure intracellular cystine levels in white blood cells every 3 months and to keep them below 0.5 nmol cystine/mg protein (= 1 nmol hemicystine/mg protein). Results: 42% of measurements were within the desired 3-month interval, 38% were done every 3–5 months, 11% every 6–8 months, 5% every 9–12 months and 4% after a 12-month interval only. 64.4% of the measurements were higher than the therapeutic target value. Median cystine levels increased with longer control intervals. Conclusions: The majority of the cystinosis patients showed insufficient metabolic adjustment. Intracellular cystine levels were not done as often as recommended and were not within therapeutic range. Poor therapy adherence is likely to be caused by gastrointestinal side effects of immediate-release cysteamine. Incorrect intervals between drug intake and blood sampling could contribute to the results. |
| first_indexed | 2024-12-11T03:26:45Z |
| format | Article |
| id | doaj.art-5f6ab042ba6a426f83db04a143bb4dd6 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-11T03:26:45Z |
| publishDate | 2020-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-5f6ab042ba6a426f83db04a143bb4dd62022-12-22T01:22:30ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-09-0124100620Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamineSimone Linden0Sabrina Klank1Erik Harms2Marianne Grüneberg3Julien H. Park4Thorsten Marquardt5Corresponding author.; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, GermanyDepartment of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, GermanyDepartment of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, GermanyDepartment of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, GermanyDepartment of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, GermanyDepartment of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, GermanyBackground: Cystinosis is a metabolic disease caused by intracellular accumulation of cystine within lysosomes. Development of symptoms can be delayed significantly by a life-long therapy with cysteamine, a drug that enters the lysosome and reacts with cystine thereby enabling its export from the organelle. Methods: During a period of 16 years, blood samples of 330 cystinosis patients were analyzed to investigate therapeutic adherence and metabolic control in patients treated with immediate-release cysteamine. The accepted therapeutic goal is to measure intracellular cystine levels in white blood cells every 3 months and to keep them below 0.5 nmol cystine/mg protein (= 1 nmol hemicystine/mg protein). Results: 42% of measurements were within the desired 3-month interval, 38% were done every 3–5 months, 11% every 6–8 months, 5% every 9–12 months and 4% after a 12-month interval only. 64.4% of the measurements were higher than the therapeutic target value. Median cystine levels increased with longer control intervals. Conclusions: The majority of the cystinosis patients showed insufficient metabolic adjustment. Intracellular cystine levels were not done as often as recommended and were not within therapeutic range. Poor therapy adherence is likely to be caused by gastrointestinal side effects of immediate-release cysteamine. Incorrect intervals between drug intake and blood sampling could contribute to the results.http://www.sciencedirect.com/science/article/pii/S2214426920300665AdherenceCysteamineCystine levelCystinosisMetabolic monitoring |
| spellingShingle | Simone Linden Sabrina Klank Erik Harms Marianne Grüneberg Julien H. Park Thorsten Marquardt Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine Molecular Genetics and Metabolism Reports Adherence Cysteamine Cystine level Cystinosis Metabolic monitoring |
| title | Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine |
| title_full | Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine |
| title_fullStr | Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine |
| title_full_unstemmed | Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine |
| title_short | Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine |
| title_sort | cystinosis therapy adherence and metabolic monitoring in patients treated with immediate release cysteamine |
| topic | Adherence Cysteamine Cystine level Cystinosis Metabolic monitoring |
| url | http://www.sciencedirect.com/science/article/pii/S2214426920300665 |
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