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If you suspect a family member might have CTX, the first thing that needs to happen is a blood test be administered to determine if the markers for CTX exist.
There are several labs in the world that will perform the testing for CTX. You should consult with your physician to discuss these options. A list of the labs and the services they provide regarding CTX testing can be found at this link: Testing Labs If the blood test shows positive as possible CTX, the next step is to go for genetic testing that will identify the presence of the mutation in the CYP27A1 gene that causes CTX. Some of the labs at the above link will be able to perform both the blood and the genetic testing.
If testing shows a positive CTX diagnosis, it is imperative to start CDCA therapy immediately. Since one cannot obtain CDCA through a local pharmacy, Retrophin, the manufacturer of Chenodal, the US available brand of CDCA medication has partnered with Dohmen life science services to provide assistance through Centric Health Services for newly diagnosed patients in navigating the web of insurance coverage and other challenges that arise from getting a medication that is designated as off label for treatment of CTX. Here is the information for Centric:
Phone: 1-866-758-7068
In addition, Dr. Andrea Debarber who is working to develop a Newborn Screening test for CTX has graciously volunteered to make herself acccesible to patients via e-mail. You may contact her at this e-mail address: debarber@ohsu.edu
Lastly you can get to an online family and patient resource forum at the Inspire website by clicking here or clicking the Talk About CTX link on the left side of this page or by clicking the Talk About CTX button above. |
