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Recent advances in the treatment of cystinosis

  • Published:
Journal of Inherited Metabolic Disease

Summary

Cysteamine bitartrate capsules (Cystagon) have been approved by the US Food and Drug Administration for use in patients with nephropathic cystinosis. Plasma cysteamine concentrations were virtually identical at various times following ingestion of either cysteamine hydrochloride or Cystagon capsules in 24 normal control subjects. A transfer study was done with eight cystinosis patients who had been receiving either cysteamine hydrochloride or phosphocysteamine for many years. The plasma cysteamine concentration was significantly higher 2h after Cystagon and the leukocyte cystine content was significantly lower at all times after Cystagon compared to older forms of the drug. These differences are probably the result of greater patient compliance in taking the capsules compared to the older, liquid forms of the drug. A new method for following the course of renal glomerular deterioration in diseases such as cystinosis has been published recently. This method was used to re-analyse data on the efficacy of cysteamine treatment and to re-analyse new data on treating cystinosis patients with either of two doses of cysteamine (1.30 g/m2 per day and 1.95 g/m2 per day). This new method agrees well with other methods and shows that both doses of drug are equally effective in maintaining glomerular function.

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Author notes

  1. T. C. Markello

    Present address: Medical College of Virginia, Richman, Virginia, USA

Authors and Affiliations

  1. University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA

    J. S. Reisch

  2. National Institute of Child and Human Development, Bethesda, Maryland, USA

    T. C. Markello & W. A. Gahl

  3. University of Michigan, Ann Arbor, Michigan, USA

    J. G. Thoene

  4. Mylan Pharmaceuticals, Inc., Morgantown, West Virginia, USA

    P. K. Noonan & K. A. Berry

  5. Division of Pediatric Metabolism, Department of Pediatrics, University of California San Diego, 9500 Gilman Drive DEPT 0609 F, 92093-0609, La Jolla, CA, USA

    J. A. Schneider, K. F. Clark & A. A. Greene

Authors
  1. J. A. Schneider
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  2. K. F. Clark
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  3. A. A. Greene
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  4. J. S. Reisch
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  5. T. C. Markello
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  6. W. A. Gahl
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  7. J. G. Thoene
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  8. P. K. Noonan
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  9. K. A. Berry
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Schneider, J.A., Clark, K.F., Greene, A.A. et al. Recent advances in the treatment of cystinosis. J Inherit Metab Dis 18, 387–397 (1995). https://doi.org/10.1007/BF00710051

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  • DOI: https://doi.org/10.1007/BF00710051

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