Cystinosis

Cystinosis is a rare genetic disorder that causes the buildup of an amino acid called cystine in organs, including the kidneys and brain. There are three different forms known as nephropathic cystinosis, intermediate cystinosis and non-nephropathic (or ocular) cystinosis.

Nephropathic cystinosis develops when children are infants and is by far the most common and severe form. Through treatment and improvements in kidney transplantation, this type of cystinosis has shifted from a fatal kidney disorder to a chronic, multisystem disorder.

The latest on our research

We are jumpstarting our cystinosis program to accelerate research on the disorder to ultimately improve treatment options. We welcome all parents or patients interested in participating and spreading the word to the cystinosis community.