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Use of Cysteamine in the Treatment of Cystinosis

NCT00359684 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 330

Last updated 2026-05-22

No results posted yet for this study

Summary

Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is no known cure for cystinosis, although kidney transplantation may help the renal failure and prolong survival. Both the kidney damage and growth failure are thought to be due to the accumulation of the amino acid cystine within the cells of the body. The cystine storage later damages other organs besides the kidneys, including the thyroid gland, pancreas, eyes, and muscle.

The drug cysteamine (Cystagon; ProCysBi) is an oral medication given to patients with cystinosis prior to kidney transplantation. The drug works by reducing the level of cystine in the white blood cells and muscle tissue. The drug may also decrease levels of cystine in the kidneys and other tissues.

This study has several goals:

1. Long-term surveillance of cysteamine treated patients.
2. Detection of new non-kidney complications of cystinosis.
3. Maintenance of a patient population for genetic testing (mutational analysis) of the cystinosis gene.\<TAB\>

...

Conditions

  • Cystinosis

Interventions

DRUG

Cysteamine

Cystine-depleting agent

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • William A Gahl, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
1 Week
Max Age
115 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
1979-01-04

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00359684 on ClinicalTrials.gov