Abstract
Background
Patients with nephropathic cystinosis are required to take 6-hourly immediate-release cysteamine (Cystagon®) to reduce disease progression. This arduous regimen affects quality of life, disrupts sleep, and may result in non-compliance with therapy. Enteric-coated cysteamine bitartrate (EC-cysteamine) was developed as a “proof-of-concept” formulation for twice-daily ingestion. Previous reports have shown this therapy to be effective up to a mean of 14 months.
Case-Diagnosis/Treatment
Two subjects (aged 13 and 15 years) received EC-cysteamine for 5–6 years at 60–65 % of their previous total daily dose of immediate-release cysteamine given at 6-h intervals. White blood cell (WBC) cystine levels were monitored every 1–3 months.
Conclusion
The administration of EC-cysteamine did not result in any change in mean trough WBC cystine levels or any deterioration in the estimated glomerular filtration rate, thyroid, or liver function, suggesting that delayed-release, twice-daily EC-cysteamine is an effective long-term treatment alternative to immediate-release cysteamine given at 6-h intervals.
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Acknowledgments
The authors would like to thank Dr Frederick Kaskel, Children’s Hospital at Montefiore, New York and Dr Paul Grimm, Lucile Packard Children’s Hospital, California for continuing to provide excellent care.
Conflict of interest statement
The University of California, San Diego has a financial interest in Raptor Pharmaceutics, the company sponsoring this research. Dr Dohil and the University of California may financially benefit from this interest if the company is successful in developing and marketing a cysteamine product for the treatment of cystinosis. The terms of this arrangement have been reviewed and approved by the University of California, San Diego in accordance with its conflict of interest policies. Betty Cabrera does not have any conflict of interest.
Support was provided by Cystinosis Research Foundation, Irvine, CA and National Institute of Health Grant MO1RR00827.
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Dohil, R., Cabrera, B.L. Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up. Pediatr Nephrol 28, 507–510 (2013). https://doi.org/10.1007/s00467-012-2315-5
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DOI: https://doi.org/10.1007/s00467-012-2315-5