Clinical trial NCT00359684: Use of Cysteamine in the Treatment of Cystinosis
Official title: Use of Cysteamine in the Treatment of Cystinosis
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Cystinosis
Keywords: Cystinosis
Cystine
Lysomal Storage Disease
Mutation Analysis
Metabolic Disease
Natural History
Lead sponsor: National Institutes of Health Clinical Center (CC)
Sponsor class: NIH
First posted: 2006-08-02
Enrollment: 330
Sex: ALL
Minimum age (years): 1
Maximum age (years): 115
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with a diagnosis of cystinosis

Brief 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\>

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 cystinosis patients on August 15, 1994. Cysteamine is available as CystagonR through Mylan Pharmaceuticals in 50 mg and 150 mg capsules and as ProcysbiR in 75 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 demonstrates the course of cystinosis patients treated with cysteamine, describes new complications of the disorder in poorly treated adults, and maintains 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.

Eligibility 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.

Nonviable neonates and neonates of uncertain viability will be excluded.

Primary outcomes:
measure: Serve as a source of knowledge and advice for individual cystinosis patients and for the community at large
timeFrame: Follow-up can occur every two years
Secondary outcomes:
Other outcomes:
Locations:
city: Bethesda
country: United States
facility: National Institutes of Health Clinical Center
state: Maryland
Study officials:
affiliation: National Human Genome Research Institute (NHGRI)
name: William A Gahl, M.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: Florenzano P, Ferreira C, Nesterova G, Roberts MS, Tella SH, de Castro LF, Brown SM, Whitaker A, Pereira RC, Bulas D, Gafni RI, Salusky IB, Gahl WA, Collins MT. Skeletal Consequences of Nephropathic Cystinosis. J Bone Miner Res. 2018 Oct;33(10):1870-1880. doi: 10.1002/jbmr.3522. Epub 2018 Jul 20.