The California Institute for Regenerative Medicine (CIRM) approved a $5.2 million fund to help create a better and more safe life-long treatment for the childhood rare disease cystinosis.
University of California, San Diego researcher Stephanie Cherqui, Ph.D. and her team believe there is a better way to help treat this disease than the already FDA approved therapy Cysteamine (Cystagon) which has shown delays in progression of the disease, has severe side effects and the patients taking it still require kidney transplants, and develop diabetes, neuromuscular disorders and hypothyroidism.
The researchers have studied that taking blood stem cells from people with cystinosis, genetically-modify them to remove the mutation that causes the disease, then return them to the patient, could be a more effective treatment with the hope that the modified blood stem cells will create a new, healthy, blood system free of the disease.
The CIRM funding approved today will enable Cherqui and her team to do the pre-clinical work needed to show the approach appears to be both safe and effective for possible clinical trials in the future.
Cystinosis is a genetic metabolic disease that causes an amino acid, cystine, to accumulate in various organs of the body. Cystine crystals accumulate in the kidneys, eyes, liver, muscles, pancreas, brain, and white blood cells. Cystinosis is typically diagnosed prior to age 2
Cystinosis also causes complications in other organs of the body. The complications include muscle wasting, difficulty swallowing, diabetes, and hypothyroidism and can lead to end stage kidney failure before a child’s 10th