An observational study in Cystinosis, sponsored by National Human Genome Research Institute (NHGRI). Recruiting at 1 site in United States. Open to participants aged 1 Week to 115 Years. Per ClinicalTrials.gov, last updated 2026-09-16.
Sponsored by National Human Genome Research Institute (NHGRI) · Observational
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:
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.
Patients with a diagnosis of cystinosis
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.
Patients with a diagnosis of cystinosis
Drug: Cysteamine
Cystine-depleting agent
Serve as a source of knowledge and advice for individual cystinosis patients and for the community at large
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
Plan to share: Yes — pending
Supporting information: Study protocol
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
National Human Genome Research Institute (NHGRI)