Signs and symptoms occurring at different times can delay diagnosis3

It can be difficult to identify CTX because it is so rare and may involve seemingly disparate signs and symptoms. This challenge delays an accurate diagnosis, often until the disease has significantly progressed or caused disability.1-4

About 500 patients diagnosed 35 years average age of diagnosis

CTX presents with a range of burdensome signs that may occur at different stages of life for different people3:

Neonatal cholestasis/prolonged jaundice

Chronic diarrhea

Idiopathic bilateral cataracts

Tendon xanthomas

Neurological deterioration (eg, movement disorders)

 

Siblings have a 25% chance of being affected by CTX6

CTX can run in families, so consider carrier testing. Mirum offers an array of no-cost diagnostic testing kits. Ask your Regional Account Manager for more information.

Patients are at risk as long as CTX goes untreated

The longer CTX is left untreated, the longer its toxic bile acid precursors can accumulate in tissues, such as the eyes, tendons, and brain, which can cause lasting damage or dysfunction.3,4

Early treatment is correlated with better outcomes and may help prevent permanent disabilities and neurological damage.7