CTX Prevalence Study

In 2015, we embarked on a long-term initiative to characterize the prevalence of cerebrotendinous xanthomatosis (CTX) by enrolling the first patient in our CTX Prevalence Study.

The goal of the CTX Prevalence Study is to calculate the prevalence of this rare, progressive, and underdiagnosed lipid storage disease in patients between two and 21 years of age who are living with early-onset idiopathic bilateral cataracts.1 The study also aims to reveal other manifestations of CTX in these patients, and may also build greater understanding of the natural history of the disorder.

To date, more than 30 sites in the U.S. have enrolled patients, and the company is actively seeking additional study sites.

Learn more about enrolling patients into the CTX Prevalence Study, or call Retrophin Medical Information at (877) 659-5518.


1. Lorincz, et al. Arch Neurol 2005;62(9):1459-1463.