HOME / THERAPEUTIC AREAS / CEREBROTENDINOUS XANTHOMATOSIS (CTX) THERAPEUTIC AREAS FOCAL SEGMENTAL GLOMERULOSCLEROSIS (FSGS) IgA NEPHROPATHY (IgAN) CLASSICAL HOMOCYSTINURIA (HCU) N-GLYCANASE 1 (NGLY1) DEFICIENCY ALAGILLE SYNDROME (ALGS) CYSTINURIA BILE ACID SYNTHESIS DISORDERS (BASD) CEREBROTENDINOUS XANTHOMATOSIS (CTX) PEROXISOME BIOGENESIS DISORDER-ZELLWEGER SPECTRUM DISORDER (PBD-ZSD) CEREBROTENDINOUS XANTHOMATOSIS (CTX) Cerebrotendinous xanthomatosis (CTX) is a rare, progressive and underdiagnosed bile acid synthesis disorder affecting many parts of the body. In people with CTX, the body is unable to break down cholesterol properly causing toxins (e.g., cholestanol and bile alcohols) to build up throughout the body over time. Signs and symptoms of CTX include neonatal cholestasis (jaundice or bile flow interruption), chronic diarrhea, the development of bilateral cataracts before the age of 18, development of tendon xanthomas (fatty deposits in the tendons) during teenage years or later, and neurologic deterioration. The types, combinations and severity of symptoms can be different from person to person, and making diagnosis challenging and often delayed. The disorder is inherited in an autosomal recessive genetic manner, meaning that a child is affected when each parent passes on one copy of the mutated gene. Learn more about our development efforts for cerebrotendinous xanthomatosis. Resources: NIH Genetics Home Reference; AboutCTX.com Biochemical CTX Testing Laboratory: Oregon Health & Science University (OHSU) Testing to help diagnose patients with cerebrotendinous xanthomatosis (CTX) at no cost to qualifying patients. The test measure levels of 7a, 12a-Dihydroxy-4-cholesten-3-one (7a12aC4) which is elevated in people with CTX. Learn more about CTX testing Behind the Blur – Genetic Test for Early-Onset Bilateral Cataracts Laboratory: PreventionGenetics Testing to help identify the genetic cause of early onset bilateral cataracts through a 66 gene panel. Learn more about the early onset bilateral cataracts test Cholestasis Testing Laboratory: Prevention Genetics Genetic testing for pediatric patients with cholestasis or prolonged jaundice without a known cause. The test checks for 77 potential genetic causes of cholestasis. Learn more about the genetic cholestasis panel PATIENT ADVOCACY ORGANIZATIONS Find resources, community and support through the patient advocacy organizations below. MA-322 © 2021 Travere Therapeutics, Inc. All rights reserved. For US audiences. Chenodal®, Cholbam® and Total Care HUB® are registered trademarks of Travere Therapeutics, Inc. Thiola® and Thiola EC® are registered trademarks of Mission Pharmacal Company. Terms and Conditions | Privacy Policies | Cookie Preferences This website uses cookies for optimal site functionality. By continuing to use this website, you consent to our use of cookies. To change your cookie preferences, click on "Cookie Settings" or for more information, please see ourPrivacy Policies. Accept All Cookies Cookie Settings