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) 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 (Cystagon) 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.