According to a press release from the California Institute for Regenerative Medicine (CIRM), the Institute’s governing body has approved a grant of nearly $12 million to University of California, San Diego researcher Dr. Stephanie Cherqui.
The grant money will be used to fund a clinical trial studying gene therapy treatment in cystinosis patients.
Cystinosis is a highly rare disease, only affecting an estimated 2,000 individuals worldwide.
The condition is a metabolic disorder caused by one of over 80 different mutations to the CTNS gene. Normally, CTNS codes instructions for the production of a transport protein called cystinosin. Cystinosin has a highly specialized function — it carries the amino acid cystine out of lysosomes (organelles that contain digestive enzymes) in cells around the body. Mutations to CTNS can lead to malfunctioning cystinosin molecules that are unable to effectively transport cystine out of cells.
Cystine subsequently builds up in cells in the eyes, brain, kidneys, liver, and muscle tissue, leading to severe organ dysfunction if left untreated. Before the invention of cystine-limiting therapies, individuals with cystinosis often would not live past ten years of age — the forms affecting the kidneys proving to be especially lethal.
With early detection and treatment, cystinosis patients can expect to live well into adulthood, beyond their 50s.
Gene Therapy: The Way Forward?
Existing drug therapies only slow progression of the disease — no cure is currently available. That’s where researchers like Dr. Cherqui come in.
In her CIRM-funded clinical trial, Cherqui and her team will use autologous stem cells collected from a patient’s blood to program functional versions of the CTNS gene. When these functional CTNS genes are introduced to the patients, the hope is that their bodies will adjust to the change and begin producing healthy cystinosin.
As the first study of its kind of cystinosis patients, Dr. Cherqui and her colleagues are primarily concerned with establishing a safety profile for the treatment. Patients will be monitored for improvement, but any observations will have to be confirmed by further studies incorporating more complicated features like placebo and control groups.
Cherqui’s study is the 55th such trial funded by CIRM, which seeks to advance cell and gene therapy technology.
Gene and cell therapies have the potential to offer long-lasting relief with only a few treatments. What do you think of this exciting development? Share your thoughts with Patient Worthy!