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\>
Cystinosis
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\>
Use of Cysteamine in the Treatment of Cystinosis
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National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
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1 Week to 115 Years
ALL
No
National Human Genome Research Institute (NHGRI),
William A Gahl, M.D., PRINCIPAL_INVESTIGATOR, National Human Genome Research Institute (NHGRI)
N/A