DCR will supply blood samples with clinical data annotation from DCR's biorepository of over four thousand patients with ESRD. The screening effort will employ high-throughput genetic sequencing of the cystinosin, lysosomal cystine transporter (CTNS) gene, mutations of which result in cystinosis. Results of the collaboration may reveal new insights into the prevalence of missed late-onset cystinosis in this at-risk patient population.
"Today, most nephropathic cystinosis patients are identified in infancy by pediatric nephrologists, yet, as with many genetic diseases, later-onset patients have been identified where the clinical manifestations of cystinosis may go unrecognized well into adulthood," noted
The CTNS gene is responsible for coding for the protein cystinosin, which is responsible for transporting the amino acid cystine out of the lysosome in cells. The accumulation of cystine is toxic to every cell, and can therefore affect all tissues and organs in the body, most notably the kidneys.
"Nephropathic cystinosis is such a rare disease that it is likely that some cases have not been characterized in the adult population," said
About Nephropathic Cystinosis
Nephropathic cystinosis comprises 95 percent of the diagnosed cases of cystinosis, a rare, life-threatening metabolic lysosomal storage disorder that causes toxic accumulation of cystine in all cells, tissues, and organs in the body. Elevated cystine leads to progressive, irreversible tissue damage and multi-organ failure, including kidney failure, blindness, muscle wasting and premature death. Nephropathic cystinosis is typically diagnosed in infancy and requires lifelong therapy. Left untreated, the disease is usually fatal by the end of the first decade of life. There are an estimated 500 patients living in
Cystine depletion is the primary treatment strategy for nephropathic cystinosis. However, poor adherence to therapy has been a major challenge resulting in poor sustained control of cystine levels, and patients consequently experience poor clinical outcomes, including kidney insufficiency leading to dialysis and kidney transplantation, muscle wasting and in some cases, premature death. Even brief interruptions in daily therapy can permit toxic accumulation of cystine, exposing tissues to renewed, progressive deterioration.
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