It’s been a while since the last update so I’ll try to consolidate as much as I can about all of the developments that have occurred since the last update. We have received our first shipment of CDCA from the John Bell&Croyden pharmacy in London, so at least for now, that hurdle has been overcome.
Ashley’s latest test results show continued improvement from the CDCA therapy, which continues to be encouraging. In the meantime we have been having many discussions about the future availability of the medication, and how our efforts going forward should be directed. On December 18th, we had a conference call with Dr. Salen and Dr. Patel. We wanted to talk to them to get their recommendations as to where we could best focus our efforts. We started the call by identifying a few main topics for discussion:
If and how we would form an organization. Some of this goals of this organization would be:
• Bring patients together to form a more united front to achieve the groups goals and to serve as a support group.
• To serve as an information resource for patients and physicians in many aspects of CTX treatment including:
• i. management and monitoring protocols
• ii. Discuss where monitoring takes place if not available locally for patients.
• iii. Increase awareness and education of the public, and the medical community.
• How to establish a steady supply of chenodeoxycholic acid, currently the only therapy for CTX.
• Support more research into CTX. Among items to be achieved with research are better management of the patients with CTX and establishment of a Standard of Care for CTX.
Dr. Patel and Dr. Salen have been in discussions with the ULF, who have agreed to fund a conference (hotel and meals) next summer, most likely early July that would only be for CTX patients, Doctors, and Families. We would all be responsible for our transportation to and from the conference. This would be separate from the regular ULF conference that takes place every year.
We had a discussion about the numbers of those affected with CTX and Dr. Salen stated that he currently treats about 50 families in the United States for CTX. In some cases these families have more than one affected individual and an estimate of 75 total patients with CTX was given. He does not have numbers for individuals outside of the US. Dr. Salen also mentioned that even though CTX is still considered a rare disorder that he does feel that it is misdiagnosed often and is likely more common than the numbers indicate. He later mentions that they are diagnosing an average of 3-4 more patients per year with the average age of diagnosis being teenager to early 20’s.
Dr. Salen committed to contacting all of the patient’s under his care and letting them know about our efforts so that we can begin building a larger base to draw from in our efforts going forward.
Next, we talked about CDCA and the current developments around the supply, future supply etc. After a quick recap of the situation over the last year with CDCA Dr. Salen revealed that Rare Disease Therapeutics is now back in the picture. We have had some discussion on the yahoo group about agricultural grade CDCA and/or bulk batches of it and had many questions about it’s usefulness in treating CTX. According to Dr. Salen, RDT is investigating whether they can import this bulk CDCA from either Korea or Japan. If they find they are able to, then they will begin negotiations with companies in the United States who would be willing to take bulk supplies of CDCA and put it into capsule form.
The question of why CDCA is manufactured in bulk form was asked. Dr. Salen responded with the answer that CDCA is used as a compound for several medications to treat diseases and disorders that relate to liver metabolism. One such medication, Ursodiol is still widely used and needs CDCA to be manufactured. This is a high grade, medicinal class of CDCA and is perfectly adequate to be put into capsule form and given to CTX patients. This is encouraging to know that there doesn’t appear to be a future lack of supply of CDCA itself. The problem is getting it to CTX patients in the US in a dosable form.
Before we disconnected, Dr. Patel summarized a few action items to take immediately:
• Contact the ULF to let them know that we are interested in a CTX conference in July of 2006.
• Contact Bo Allen at Rare Disease Therapeutics about the developments in getting a steady supply of CDCA.
• Contact families and canvass about establishing the organization as well as the July Conference.
I will post more news as it comes regarding the efforts going forward.