Best Life: Experimental treatment for cystinosis

Updated: Jul. 29, 2020 at 9:04 AM CDT
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SAN DIEGO, Calif. (Ivanhoe Newswire)— It’s a disease that slowly and aggressively attacks your organs, tissues, muscles, bones, eyes, even your brain. Cystinosis is a genetic disorder with no cure. Currently, the only option for treatment is an army of pills to slow it down— missing even one dose can be devastating. One young man is the first to try a new treatment that may save thousands of lives.

Most people don’t know the pain behind Jordan Janz, 21, smile. He’s living with cystinosis— a rare, unrelenting disorder.

“I was diagnosed at eight months old and basically have been living with it my whole life,” Janz shared.

In Jordan, cystine, an amino acid, gets trapped in his cells. When cystine levels rise, crystals build up all over the body leaving a trail of damage— even causing him to vomit up to 13 times a day.

“It’s not how strong you are physically; I think it’s how strong you are mentally when you come into this,” Janz admitted.

Traditional cystinosis treatments aim to slow the buildup of cystine inside cells. In order to do that Jordan takes 56 pills each day, but now he hopes to change that. Jordan is the first patient to test a unique gene therapy.

UC San Diego professor Stephanie Cherqui took stem cells from Jordan’s bone marrow, re-engineered the cells, introduced genes that will produce cystinosin… then reinfused Jordan with his own cystinosin-producing cells.

“So, then these cells become a source of healthy stem cells for the rest of the life of the patient,” explained Stephanie Cherqui, Ph.D. of the department of pediatrics at the University of California San Diego.

Jordan had to take chemo twice a day, but he hasn’t let that scare him away.

“I’m doing this obviously for other cystinosis families, right? Somebody has to do it,” Janz shared.

Hoping that many others after him will now get the chance at a better, longer life.

Professor Cherqui’s trial is ongoing and has recently admitted a second patient. For those born with cystinosis who make it into adulthood, the average lifespan is around 28 years old. Now, with Cherqui’s new genetically modified stem cells Janz is making a good recovery. Though it is still too soon to tell, hopefully, it will be able to help even more patients in the future.

Cyndy McGrath, Executive Producer; Marsha Lewis, Field Producer; Sabrina Broadbent, Field Producer; Roque Correa, Editor.

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