In our earlier discussions with Bo, there was a chance that we would be attending the Annual Clinical Genetics Meeting. The Annual Clinical Genetics Meeting is hosted by the American College of Medical Genetics( http://www.acmg.net/ ).

The ACMG Annual Clinical Genetics Meeting is the most important meeting in the clinical and medical genetics arena – complete with cutting edge science, practical clinical applications and a display of the latest services, technology, and medical advances in this rapidly growing medical specialty.

The ACMG Annual Clinical Genetics Meeting attendees are of the highest caliber in the field of clinical and medical genetics, they are the buying decision-makers for the products and services utilized in their facilities and in their practices, and they view the exhibit hall as a logical extension of the educational experience of the meeting. Exhibitors experience an unmatched setting for communicating the latest developments in genetics through their booth displays and educational sessions offered in Exhibitor Laboratory Theaters and Industry-Supported Symposia.

Bo was working with the the Society of Inherited Metabolic Disorders( http://www.simd.org ) who are participating in the Annual Clinical Genetics Meeting (ACMG). Bo had suggested that it might not be a bad idea for Angie and I to go to be there as a patient presence for CTX. It is going to be held in San Diego on March 23rd through March 26th.

He also gave us a list of other Doctors in the US who know about CTX. We are going to be contacting those Doctors to get them involved with our efforts. We ended up getting in touch with with a representative from SIMD and were told that it would not be the best use of our time and money to attend this conference, that many Doctors are foregoing the San Diego conference and instead are attending the world conference in Japan. We will not be going to that one unless we get full sponsorship and even then it’s a tossup. We will continue to look into this as the time draws nearer to this conference.

We have sent contact letters to all of the patients that Dr. Salen sent us and are beginning to get some responses back. Some of the stories are quite tragic and it’s apalling to us to hear how many people are not taking CDCA and don’t even know where or how to get it. Many of these folks don’t have access to modern technologies such as computers or internet to be aware of these things and it seems that their physicians and caretakers are dropping the ball when it comes to their care.

In addition, someone whom I’ve had no previous contact with has contacted me in regards to a CTX patient they are working with who is in the same situation. I have sent them Jim Bona’s contact information so that they might be able to get help for this patient.

One of the first things we want to do is compile all of the stories we get together so that we can compare the road to diagnosis for each patient . This will hopefully show us some of the other areas where improvement is needed in the medical field for this disorder.

I have quite a bit of news today. There has been a fair amount of conversations happening since the conference call in December but I didn’t want to post until all the information was gathered. Soon after the conference call and after some time had passed as to when we were expecting to hear about the efforts being made to get CDCA into the US, we got in touch with Rare Disease Therapeutics(RDT) and asked them for any news. We were able to speak to Bo Allen’s assistant who informed us that RDT was not working on any such effort. We were told that it is Dr. Kenneth Setchell who is spearheading the effort.

We were a bit surprised as this differed from what we had discussed during the conference call. Dr. Setchell is the director of the Clinical Mass Spectrometry Laboratory at Cincinnati Children’s Hospital Medical Center. Not content to leave it at that, we contacted Dr. Setchell to get his side of the story. He did corroborate what Bo’s assistant said that he was in fact working on getting CDCA into the US in bulk form and organizing an operation to get CDCA to patients. He is the Dr. whom I have heard is treating some patients with Cholic Acid. We asked him about this and he stated that he does treat his younger patients with Cholic Acid, apparently they have a good response with Cholic Acid. He said that as a patient gets older, he recommends moving to CDCA therapy. He mentioned that his supply of Cholic Acid is drying up which, along with the scarceness of CDCA has motivated him to undertake this effort. He did say he is also willing to help our cause in any way he can. I have a feeling we will all get to know Dr. Setchell in the future.

Angie and I discussed this information and were unable to put it all together to determine what was really going on with everything. It was nagging at me and so I persuaded her to call Bo Allen at home last night. Her conversation with Bo was very enlightening. It turns out that Bo has left RDT and is now partnering with Dr. Setchell in forming a company to get CDCA made here in the US. This corroborates an e-mail I sent on Wednesday to Dr. Salen asking about the differing bits of information that we were geting. Bo said that Dr. Setchell is currently in Australia trying to raise money to this off the ground. Bo said they need about $1M to get going.

There are 3 different drugs they are going to target with this effort. One is Cholic Acid, one is CDCA and I can’t remember the third but it’s used to treat pulmonary hypertension in infants. There are of course numerous government regulations and processes that must be followed to get this to all fall into place. One of those processes involves a detailed manifest about CDCA. To get this manifest together is quite expensive and time consuming, up to 3 years. Bo was hedging on not having to draft a new one but to be able to obtain one already created. He intends to contact Solvay who previously manufactured Chenix which was the retail name for CDCA when it was available within the US.

We spoke with Bo over the weekend about this and it turns out that he is 99% sure he will be able to get this set of documents from another source and not have to draft his own set. Some other news to report is the cost of CDCA once it becomes available. According to Bo, there is a government requirement that each patient have a ‘maintenance'(not the official term) fee each year of 5 to 8 thousand dollars. This would price most, if not all of us, right out of being able to obtain the medication. We suspect that grants will be responsible for keeping the medication attainable to patients with such a barrier in place. I should also mention that even though this is moving now, that it could be 2 years before the first set of capsules rolls out of the lab.

Bo said that he thinks that the Falk foundation will likely manufacture 1-2 more batches of CDCA before they halt production. We did not ask how much a batch is and how long it would last. In th event that we are facing imminent unavailability of the medication, Bo said that there are some emergency measures we can take under the guise of his new company to get the bulk CDCA and distribute it prior to all of his requirements being completed for his company. He says that Dr. Setchell’s lab has the capability to put it in capsule form in such a situation.

Lastly I should mention that Dr. Salen did send us a list of patients who are interested in becoming involved in our organization. We are going to be contacting each of them and will be posting information about that as it comes in. That’s all I can think of for now. If there are any details I left out, I will update later.