New gene therapy helps patients with rare disease. One mother wouldn't have it any other way.

New gene therapy helps patients with rare disease. One mother wouldn't have it any other way.

A biotech in Cambridge, Mass., is targeting a rare disease called cystinosis with gene therapy. It's been effective for five patients in a clinical trial that's still underway.

Cherqui Lab

Three years ago, Jordan Janz of Consort, Alberta, knew his gene therapy treatment for cystinosis was working when his hair started to darken. Pigmentation or melanin production is just one part of the body damaged by cystinosis.

“When you have cystinosis, you’re either a redhead or a blonde, and you are very pale,” attests Janz, 23, who was diagnosed with the disease just eight months after he was born. “After I got my new stem cells, my hair came back dark, dirty blonde, then it lightened a little bit, but before it was white blonde, almost bleach blonde.”

According to Cystinosis United, about 500 to 600 people have the rare genetic disease in the U.S.; an estimated 20 new cases are diagnosed each year.

Located in Cambridge, Mass., AVROBIO is a gene therapy company that targets cystinosis and other lysosomal storage disorders, in which toxic materials build up in the cells. Janz is one of five patients in AVROBIO’s ongoing Phase 1/2 clinical trial of a gene therapy for cystinosis called AVR-RD-04.

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