Welcome

Welcome to CTXInfo.org. This site was created to organize information about the genetic disorder Cerebrotendinous Xanthomatosis(CTX) an autosomal recessive inherited form of Leukodystrophy and to bring those affected together in hopes that an organized presence would be useful in getting the disease more mainstream. We started this site after our daughter was diagnosed with CTX and discovered that there is very little organized information on the internet about this disease. Our goal is to bring together those who are affected to share stories about the disease, treatments that they might be trying and the successes you have had in dealing with this disease. Since CTX is in the family of genetic disorders called leukodystrophies, CTXInfo.org will contain some information about the disorders that are in the leukodystrophy classification.

Those of you who are taking medication or obtaining it for someone else know that getting it is not as simple as making a trip to the drugstore. We would like to see this change and feel that an organized effort by those with a vested interest in making the medication available might be successful in making this essential treatment easier to obtain for those in need of it.

We have implemented a message board which you can get to by navigating to the forums link in the left navigation area or clicking the Forums button near the top of the page. I strongly encourage you to post your stories and experiences. The more traffic we get the more people we will find that are affected and the more interest we can generate in our cause. You are encouraged to share contact information with others on the board and post things that others might find helpful in dealing with CTX and other leukodystrophies.

Of all the Leukodystrophies, CTX is the most treatable with a medication, called Chenodeoxycholic Acid(CDCA) that is proven to successfully stop the progression of the disease. The only problem is that this medication, that was originally created as a treatment for gallstones is no longer manufactured in the United States. The reason being is that since the creation of CDCA, better treatments for gallstones have been researched and developed. This caused the status of CDCA to be relegated to an Orphan drug as it's primary use was rendered obsolete. That leaves the sole purpose of CDCA in the United Statesto be a treatment for CTX. The prevalance of CTX is not fully know with estimates in the neighborhood of only 300 individuals worldwide who are currently diagnosed with CTX, with an even smaller percentage, with numbers near 50, of those living in the United States. Since the drug does not have an approved status by the FDA as a treatment for CTX in the United States, it cannot be manufactured here without going through a long and expensive trial to gain FDA approval. With such low numbers being affected, pharmaceutical companies in the United States find it unprofitable to pursue this.

This medication is currently available from pharmaceutical companies in Germany and possibly Italy. This is good, however it is not known how much longer CDCA will be manufactured by these companies. In addition, to get the medication into the United States requires strict adherence to Federal and Internation drug import policies which are subject to change and could potentially make this drug unavailable to those in the United States. Also associated with obtaining this medication outside of the United States is a higher cost than a standard prescription drug, with many health insurance companies unwilling to subsidise the purchase of this medication. For individuals where this cost is prohibitive, it leaves them with little to no option to get the treatment that they, or individuals they care for, so desperately need.

It is with the formation of CTXInfo.org we hope to be able to make changes that will address many of these issues as we ourselves are affected. You can read our story in the forum here.