NCT00359684 Use of Cysteamine in the Treatment of Cystinosis
| NCT ID | NCT00359684 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Human Genome Research Institute (NHGRI) |
| Condition | Cystinosis |
| Study Type | OBSERVATIONAL |
| Enrollment | 330 participants |
| Start Date | 1979-01-04 |
| Primary Completion | — |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 330 participants in total. It began in 1979-01-04.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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\>
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.
Contact & Investigator
William A Gahl, M.D.
PRINCIPAL INVESTIGATOR
National Human Genome Research Institute (NHGRI)
Frequently Asked Questions
Who can join the NCT00359684 clinical trial?
This trial is open to participants of all sexes, aged 1 Week or older, up to 115 Years, studying Cystinosis. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT00359684 currently recruiting?
Yes, NCT00359684 is actively recruiting participants. Contact the research team at gahlw@mail.nih.gov for enrollment information.
Where is the NCT00359684 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT00359684 clinical trial?
NCT00359684 is sponsored by National Human Genome Research Institute (NHGRI). The principal investigator is William A Gahl, M.D. at National Human Genome Research Institute (NHGRI). The trial plans to enroll 330 participants.