Stephanie Cherqui, PhD, from the University of California, San Diego, talks about the latest data testing hematopoietic stem cell gene therapy as a treatment for cystinosis.

Cystinosis is a rare lysosomal storage disorder characterized by the accumulation of cystine in various organs, including the kidneys, eyes, muscles, pancreas, and brain. The condition is due to mutations in the CTNS gene.

As Dr. Cherqui explains, current treatment options for cystinosis are multiple pills/drops every day that can lead to a plethora of other problems. Since cystinosis is a genetic rare disease, a study is currently underway to test hematopoietic stem cell gene therapy as a potential cure for cystinosis patients.

At present, three patients have been given the therapy and to date, hematopoietic stem cell gene therapy appears to be safe and effective. 

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