Use of Cysteamine in the Treatment of Cystinosis

Recruiting Observational Study
Cystinosis
No Placebo Group Every participant receives an active treatment — no one gets a placebo. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
1 Week – 115
Sex
Any
Study type
Observational
Participants needed
330 (estimated)
Sponsor
National Human Genome Research Institute (NHGRI) · NIH
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About This Trial
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 k…
Trial Locations
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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 typic…
Contacts

William A Gahl, M.D.

(301) 402-2739

gahlw@mail.nih.gov

CONTACT