Use of Cysteamine in the Treatment of Cystinosis
Information source: National Institutes of Health Clinical Center (CC)
Information obtained from ClinicalTrials.gov on October 19, 2009
Link to the current ClinicalTrials.gov record.
Condition(s) targeted: Cystinosis
Intervention: Cysteamine (Drug)
Phase: Phase 4
Status: Recruiting
Sponsored by: National Human Genome Research Institute (NHGRI) Overall contact:
Patient Recruitment and Public Liaison Office, Phone: (800) 411-1222, Email: prpl@mail.cc.nih.gov
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) 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.
Clinical Details
Official title: Natural History Study of the Use of Cysteamine in the Treatment of Cystinosis
Study design: Treatment, Open Label, Single Group Assignment, Safety/Efficacy Study
Primary outcome: Survival
Secondary outcome: Renal function, secondary complications of disease
Detailed description:
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
off-label by post-transplant patients to prevent the non-renal complications of cystinosis.
Cysteamine is available as Cystagon 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 3-4 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
follow-up of patients over the course of 3 decades represents an invaluable contribution to
our understanding of the natural history of this rare disease.
Eligibility
Minimum age: N/A.
Maximum age: N/A.
Gender(s): Both.
Criteria:
- INCLUSION CRITERIA:
Diagnosis of cystinosis, whether classical or one of the variants with later onset or no
renal complications.
Patients will be diagnosed as having cystinosis based upon a leucocyte cystine content
greater than 1 nmol half-cystine/mg protein (normal, less than 0. 2) and a typical clinical
course.
EXCLUSION CRITERIA:
Inability to travel to the NIH.
Age less than one week.
Locations and Contacts
Patient Recruitment and Public Liaison Office, Phone: (800) 411-1222, Email: prpl@mail.cc.nih.gov
National Institutes of Health Clinical Center, 9000 Rockville Pike, Bethesda, Maryland 20892, United States; Recruiting
Additional Information
NIH Clinical Center Detailed Web Page
Related publications: Gahl WA, Reed GF, Thoene JG, Schulman JD, Rizzo WB, Jonas AJ, Denman DW, Schlesselman JJ, Corden BJ, Schneider JA. Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med. 1987 Apr 16;316(16):971-7. Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science. 1982 Sep 24;217(4566):1263-5. Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T. NIH conference. Cystinosis: progress in a prototypic disease. Ann Intern Med. 1988 Oct 1;109(7):557-69. Review.
Starting date: July 1978
Ending date: December 2030
Last updated: August 24, 2009
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