May 1st, 2006

A lot has been going on since the last update. We have finalized a date for the ULF sponsored CTX summit. It is happening on Saturday, July 1st 2006 in Dekalb, Illinois. We have been successful in contacting many CTX families and patients as well as Doctors who are knowledgeable about CTX and in some cases treat patients.

Here are a few names of individuals who are invited:

1- Dr. Gerald Salen – Confirmed as attending

2- Dr. Shailesh Patel- has done research with Salen and others – Confirmed as attending

3- Dr. Vladimir Berginer- he lives in Israel and has about 60 CTX families. He is also the individual who made the original discovery of CDCA’s effectiveness in CTX treatment – Confirmed as attending

4- Dr. Setchell/Bo Allen- Dr. Setchell and Mr. Allen are partnering to form a company to manufacture CDCA in the USA – Not confirmed

5- Dr. William Connor- Dr. Connor is currently at Oregon Health Science University and is beginning a research study on the effects of a low cholesterol diet and it’s effects in preventing the Xanthomas that are a symptom of CTX. His special interest is in atherosclerosis, nutrition and lipid metabolism. – Confirmed as attending

6- Dr. Antonio Federico – Dr. Federico is a full professor of Clinical Neurology and Director of the Department of Neurological and Behavioral Sciences, University of Siena. – Confirmed as attending

7- Dr. William Rizzo – Dr. Rizzo is the head of the biochemical genetics specialty program at University of Nebraska’s Medical Centers Munroe-Meyer Institute. He is a pediatrician from the Medical College of Virginia, where he researched inherited metabolic diseases for almost 20 years. Dr. Rizzo also heads the Section of Inherited Metabolic Diseases in UNMC’s department of pediatrics- Confirmed as attending

We will also have a representative from the FDA in attendance as well. Our little meeting continues to grow as word spreads. We feel we are making a great start to amazing things. We are also thinking of doing a hospitality night Friday June 30, this way we can spend some time getting acquainted.

I will be posting more info as the meeting draws closer.

February 14th, 2006

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( ).

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( ) 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.

February 2nd, 2006

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.

January 18th, 2006

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.

August 22nd, 2005

Walter, the founder of the yahoo group made in interesting post to the yahoo group today:

By the way, we are all going to keep on keeping on right? What I mean is, I hope all of the alternative plans will still be explored. I’d hate to go through this again and again and again. My veins are not what they used to be. Looking back it seems everyone had their own ideas on long term solutions and I hope they keep on. Don’t know if I mentioned it before, but I am trying to obtain (legally) a sample of the agricultural version, and I am going to send it to a friend who is a chemist to see what the differences between it and Chenofalk are. Rest assured, if there are no insurmountable differences I will be letting everyone know. Including the FDA and the center for disease control. It would be a good backup plan if all else fails.

I am quite interested to see how this pans out and will post the info I get here as he conveys to us.