I have put up a small photo album from the post CTX meeting at Ron and Paula’s house. You can get to it by clicking here. Also some folks have been putting some effort into finding alternative CDCA sources by looking into local compounding pharmacies. Donnie Purvis reported that his local pharmacy is looking at $800 for a 3 month supply. That will obviously not work for us, it’s simply too expensive. I have had some correspondence with Jim Bona since the meeting and he suggested that we wait until his office along with the ULF has had a chance to iron out details with the discussions that they’ve been having with various pharmaceutical reps. We have spoken with Paula and they should have some information very soon about the next steps in obtaining the medication.

Ashley is currently participating in a research study conducted by Dr. William Connor, one of the physicians who attended the CTX meeting. You can read about it here:http://www.clinicaltrials.gov/ct/show/NCT00004346. She has been in the research clinic since last Sunday, the 8th. Angie stayed with her this week while I stayed at home with Jacob. I relieved her last night and spent my first night here last night. I’m sitting in the hospital bed as I write this.

She has had her diet carefully controlled and monitored and has had many tests, including a spinal tap yesterday. Other than a little pain at the injection point she did great. She was quite nervous about it as she didn’t know what to expect. I suspect it won’t be her last one so she is better prepared now for when it comes her way again. We get to go home tomorrow after which there will be some significant dietary changes such as switching to fat free dairy products and limiting fat intake from other food groups. It will take a fair amount of adjusting but there’s no doubt it will be good for everyone in the house from a health standpoint.

While Angie was here at the research facility, she met a Doctor Robert Steiner who is an Associate Professor for the Pediatrics and Molecular and Medical Genetics, theVice Chair for Research, Head-Division of Metabolism in the department of Pediatrics of Doernbecher Children’s Hospital at Oregon Health & Science University.  He spoke to Angie about newborn screening and mentioned that his research team are working on or are very interested in pursuing research on newborn screening for CTX.  As we all know early diagnosis is crucial in CTX and if this becomes a reality, the number of lives improved will be a huge benefit.  He has contacted Paula at the ULF in order to discuss a plan for making newborn screening for CTX a reality.  This is great news!

Angie and I leave Wednesday morning to fly back to Dekalb for the annual ULF meeting. It’s going to be a lot of work and a great learning experience for us. We are excited to meet all of the families and Doctors and learn more about the Leukodystrophies. I’ll post a report when we return.

We had a great meeting in Dekalb. We were impressed and pleased with the turnout and think that those who were able to make it feel that it was worthwhile. We had great presentations by all of the physicians, some of which really highlighted how crucial and beneficial CDCA therapy is in regards to treatment of CTX. We also got some good news from James Bona, who is a Captain in the U.S. Public Health Service division of the Office of Orphan Drug Development at the Food and Drug Administration. We have a handful of options for resolving the impending issues with medication and with some help from James and his division, we think we are going to be ok in regards to maintaining the CDCA supply after December of 2007 which is when it’s predicted that the Falk foundation will cease production of Chenofalk.

Some key things we talked about during meeting besides the medication was building an international registry of CTX patients. This will help facilitate more communication between patients and doctors and can serve as a means for greater education among those physicians who are currently treating CTX patients so that they can see the variations that clearly are present in the symptoms amongst individuals who are treated for CTX.

While CTX does present with some common symptoms, it was made quite evident by the presentations that the onset and severity of those symptoms can vary greatly from person to person. With a common registry, more patients and their history’s can be made available for comparison and possibly lead to some pattern in the genotype/phenotype relationship amongst CTX patients. This could possibly lead to more and better CTX treatments as well as revealing unkown issues such as environmental triggers, etc. that may or may not influence the onset of CTX symptoms. This is another aspect of CTX that hasn’t been fully researched yet. Dr. Berginer’s presentation touched on this, which I found interesting as I have always been curious if research had been done in this area and the results of that research.

Another thing that we touched on was research that we feel needs to be done in the area of CTX. We think most patients and physicians will agree that CDCA is the definitive treatment for CTX and that research in this area of CDCA in treatment of CTX is not going to yield any significant value over what is currently known. While we didn’t necessarily come to a consensus about desired topics for research, Angie and I both feel strongly that an area that hasn’t been fully pursued, or has been but to a lesser degree is research around the formation and dissolution of the Xanthomas that appear in CTX patients.

Dr. Berginer did present some data indicating that some patients did not develop Xanthomas in addition to listing other symptoms that certain individuals did not present, however it seems evident that all patients have some risk of forming these painful growths. Realizing that Xanthoma formation can be very painful and contribute to limited, painful movement, we feel that this is an area that needs research to better understand, treat, and hopefully eliminate them.

I was also intrigued by a finding that Dr. Connor presented with a theory of Cholestanol formation and/or slow efflux of Cholestanol in the brain. I think that this theory warrants investigation. Without being a neurologist, I would venture to say that Cholestanol buildup in the brain is certainly not a good thing and that discoveries of this kind need serious consideration and investigation. We think this should be on the short list of research topics.

As we as a group continue post discussions about the meeting, we are confident that additional research topics will be raised and communicated back to the physicians and other individuals who can provide direction on the subject of research and how best to focus the resources that we as patients, and they as physicians have to realize and implement these research goals.

Lastly, we want to wholeheartedly thank all patients, their families, and the doctors who attended. Many came from far flung locations and sacrificed a great deal to attend. We also want to thank the ULF and all the volunteers who helped in all aspects from the meeting preparation to the social events that were part of the event. Without their support this meeting quite likely would not have happened on the scale that it did.

It was great to meet all of the families, patients, and doctors and to be able to discuss how we are going to proceed. We feel that this is a great start to some wonderful things from all perspectives of CTX care including diagnosis and treatment. We look forward to having some dedicated time for CTX next July during the annual ULF meeting and are excited to see the developments that will occur between now and then. We hope that everyone who attended felt this meeting was as productive as we did and left with a positive feeling about the future of CTX and the patients who are affected by it.

Quite a bit has been going on in regards to the CTX meeting on July 1st. I have a bit of news that Angie and I feel pretty good about. During all of our communications about the upcoming meeting, we have had conversations with many individuals, patients, physicians, etc.

About 4 weeks ago, we were contacted by Paula Brazeal of the ULF. She told us that she really liked the efforts that we were putting forth around CTX. This led to Paula extending an invitation for Angie and me to come to Sycamore, Illinois the home of the ULF. The purpose of the visit would be to attend a ULF board meeting, meet the board members and to extend an offering to us for positions on the ULF board of directors.

After we sat through the annual report of the organization and met Paula, Ron, and the rest of the board members, we felt that it would be an injustice to the small group of CTX individuals to not join the ULF. We feel that being able to leverage the resources and receive the support that they have offered for the benefit of the CTX group would help us achieve some of our goals immediately and to also become involved in something much larger. It was these things that made it an easy decision to accept a position on the ULF board.

We learned how much the ULF has accomplished in the area of Leukodystrophies and witnessed how extremely well run an organization it is. We feel that the ULF is genuine in its support of CTX and the Leukodystrophies as a whole. Our position on the board will help to provide a voice for CTX patients and provide an avenue to be heard by a much larger audience. The network of individuals that the ULF has established would take many years to accomplish and we felt that instead of reinventing the wheel that we should join forces to help realize the goals that we have set forth for the CTX patients.

This position is completely voluntary, that there is no compensation for us as board members. The motivation for joining is that Angie and I truly feel that it is in the best interest of the group.

There is more news that will be revealed at the July 1st meeting, the end result being that the group as a whole will be better off by aligning with the ULF, and we aim to benefit the ULF with our involvement as well.

This also helps clear our agenda of some of the other items that we had targeted for discussion about how we were going to go forward as a group and how we were going to target some of the issues we were facing.

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.

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.