Use of Cysteamine in the Treatment of 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) 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:
- < TAB> Long-term surveillance of cysteamine (Cystagon) treated patients.
- < TAB> Detection of new non-kidney complications of cystinosis.
- < TAB> Maintenance of a patient population for genetic testing (mutational analysis) of the cystinosis gene.< TAB>
|Study Design:||Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
|Official Title:||Natural History Study of the Use of Cysteamine in the Treatment of Cystinosis|
- Survival [ Time Frame: Lifetime ] [ Designated as safety issue: Yes ]
- Renal function, secondary complications of disease [ Time Frame: Decades ] [ Designated as safety issue: Yes ]
|Study Start Date:||July 1978|
|Estimated Study Completion Date:||December 2030|
|Estimated Primary Completion Date:||December 2030 (Final data collection date for primary outcome measure)|
Patients with nephropathic cystinosis have been treated with the cystine-depleting agent
cysteamine since 1978. This therapy prevents or delays renal deterioration, improves
growth, and depletes parenchymal tissues of cystine. Based largely upon data produced
through this protocol, the Food and Drug Administration approved cysteamine bitartrate
for use in pre-transplant cystinosis patients on August 15, 1994, although it is also taken
by post-transplant patients to prevent the non-renal complications of cystinosis.
Cysteamine is available as CystagonR through Mylan Pharmaceuticals in 50 mg and 150
mg capsules. By virtue of the current protocol, patients are admitted to the NIH Clinical
Center for investigations every two years, except for cases of great interest or urgency.
On each 1-3 day admission, a battery of tests is performed and the adequacy of cystine
depletion by cysteamine is monitored. This protocol will demonstrate the course of
cystinosis patients treated with cysteamine, describe new complications of the disorder in
poorly treated adults, and will maintain NHGRI expertise in the field. Its monitoring and
followup of patients over the course of 3 decades represents an invaluable contribution to
our understanding of the natural history of this rare disease.
|Contact: William A Gahl, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||William A Gahl, M.D.||National Human Genome Research Institute (NHGRI)|