Program Details
Cerebrotendinous Xanthomatosis (CTX)
Oregon Health & Science University (OHSU), through its Sterol Analysis Clinical Laboratory, will analyze patient samples at no cost to patients for biochemical confirmation* of CTX and/or for therapeutic monitoring purposes.
Testing can be performed at approximately 1, 2, 4, 6, and 12 months for the first year after therapy is initiated.†
Criteria for no-cost testing
Patients must meet at least ONE of the 3 sets of criteria below:
- Current or previous history with either:
- Idiopathic bilateral cataracts
- Tendon xanthomas
- Current or previous history with 2 of the 3:
- Chronic diarrhea
- Cholestasis/prolonged jaundice
- Tendon xanthomas
- Abnormal CYP27A1 genetic test result
*Patients not already confirmed genetically will have whole blood cells sent to Molecular Vision Laboratory, Hillsboro, OR, for sequencing of the CYP27A1 gene.
†For patients already on therapy, testing can be performed as clinically indicated at intervals requested by physician and approved by the program sponsor.
Scout by Mirum and related logos are pending trademarks of Mirum Pharmaceuticals, Inc.
