Recruiting

Cysteamine

Sponsor:

National Human Genome Research Institute (NHGRI)

Code:

NCT00359684

Conditions

Cystinosis

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Interventions

Cysteamine

Study Details

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>

...

Conditions

Cystinosis

Study ID

NCT00359684

Start date

Jan 4, 1979

Status verified date

Apr 13, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

  • 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.

Study Design

Enrollment

330 participants

Anticipated

Interventions and Outcome Measures

Arms

Cystinosis

Patients with a diagnosis of cystinosis

Interventions

Cysteamine

Cystine-depleting agent

Primary outcome measure

  • Serve as a source of knowledge and advice for individual cystinosis patients and for the community at large [ Time Frame: Follow-up can occur every two years ]

Central Contacts and Locations

Central contacts

William A Gahl, M.D.

(301) 402-2739gahlw@mail.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

More Information

Sponsor

National Human Genome Research Institute (NHGRI)

Last update posted

Sep 1, 2026

Last verified

Apr 13, 2026

Keywords

  • Cystinosis
  • Cystine
  • Lysomal Storage Disease
  • Mutation Analysis
  • Metabolic Disease
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Human Genome Research Institute (NHGRI) on 2026-09-01.