Treatment with a medication called chenodeoxycholic acid (CDCA) inhibits production of toxic lipid intermediates in CTX and can halt, slow, and in some cases reverse symptoms of the disease. Treatment progress is monitored by using biochemical testing to confirming decreases in blood cholestenol and urinary bile alcohols.
Early identification and treatment are key to prevent the clinical progression of disease and improve symptoms of CTX. If CTX is diagnosed before the neurological disease has progressed, proper treatment can potentially prevent the severe cognitive impairment and decline that may occur with the progression of untreated CTX.
Chenodeoxycholic acid is available for prescription in the United States and it is the most prescribed therapy for individuals with CTX. Cholic acid, another bile acid, is sometimes used to treat CTX as well.
Additional symptomatic or supportive treatments (such as removal of cataracts and medical management of spasticity or neuropathy) may be used to provide relief when deemed necessary by your medical care team.