Use of Cysteamine in the Treatment of Cystinosis

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Aug 1, 2006

Keywords

ClinConnect Summary

This clinical trial is studying the use of a medication called cysteamine to treat cystinosis, a rare inherited disease that causes problems like poor growth and kidney failure due to the buildup of a substance called cystine in the body. The study aims to track patients who are taking cysteamine to see how it helps over the long term, identify any new health issues that might arise outside of kidney problems, and maintain a group of patients for future genetic testing related to cystinosis.

To participate in this trial, individuals must be diagnosed with cystinosis, either the classic form or one of its later-onset variations. They should have a specific level of cystine in their white blood cells that confirms the diagnosis. Patients of all ages—starting from 7 years old—are welcome to join, as long as they can travel to the National Institutes of Health (NIH) for the study. Participants will take the medication and will be monitored closely to see how it affects their condition. This trial is important because it could help improve our understanding of cystinosis and how to manage it better.

Gender

ALL

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.