Actively Recruiting
Use of Cysteamine in the Treatment of Cystinosis
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-05-07
330
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Use of Cysteamine in the Treatment of Cystinosis
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of cystinosis, including classical or variant forms with later onset or no kidney complications
- Diagnosis confirmed by leucocyte cystine content greater than 1 nmol half-cystine/mg protein and typical clinical symptoms
You will not qualify if you...
- Unable to travel to the NIH Clinical Center
- Younger than one week old
- Nonviable newborns or newborns of uncertain viability excluded from participation
- Age greater than 115 years (implied by maximum age limit but not explicitly excluded in criteria, so not listed here as exclusion criteria per source content only)
AI-Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
W
William A Gahl, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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