Using cysteamine to treat cystinosis
Use of Cysteamine in the Treatment of Cystinosis
This study is testing how well the medication cysteamine works for people with cystinosis and what long-term effects it has on their health.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 330 (estimated) |
| Ages | 1 Week to 115 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00359684 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on patients with cystinosis, a genetic disorder that leads to kidney failure and other complications due to cystine accumulation in the body. The study monitors patients treated with cysteamine, an oral medication that reduces cystine levels, to assess its long-term effects and identify new complications associated with the disease. Patients are evaluated at the NIH Clinical Center every two years, where a series of tests are conducted to track their health and the effectiveness of cysteamine treatment. The study also aims to maintain a patient population for genetic testing to better understand the disease's progression.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with cystinosis, regardless of the disease's severity or age of onset.
Not a fit: Patients who are unable to travel to the NIH or are less than one week old will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could improve the management of cystinosis and enhance the quality of life for affected patients.
How similar studies have performed: Previous studies have shown that cysteamine effectively reduces cystine levels and improves patient outcomes, indicating a successful approach in managing cystinosis.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: William A Gahl, M.D. — National Human Genome Research Institute (NHGRI)
- Study coordinator: William A Gahl, M.D.
- Email: gahlw@mail.nih.gov
- Phone: (301) 402-2739
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.