Liaison(s): David Rozzell
Cystinuria is a serious orphan disease characterized by the accumulation of large amounts of cystine in urine. It is caused by a defect in the transporter assembly in renal proximal tubules that is responsible for the reabsorbtion of cystine and several other amino acids. Cystine accumulates in the urine in abnormally large amounts and, because of is insolubility, crystallizes to produce stones. No rapid measurement of the concentration of cystine in urine currently exists. All current tests are time-consuming and require the submission of samples to laboratories. The KGI team working with BioCatalytics has developed a test strip for urinary cystine. This rapid, non-invasive test provides a means for early diagnosis of cystinuria and regular monitoring of urinary cystine concentrations, which is expected to positively affect the disease progression. The team has contributed to all aspects of the project, including assay optimization, manufacturing, market research, and regulatory affairs.