I wanted to put up a note to inform everyone that Manchester Pharmaceuticals has been acquired by Retrophin. As those who have been taking Chenodal know, Manchester has been manufacturing the medication for CTX patients in the US for about the past 2 years. Now that will shift to Retrophin. From their website, Retrophin is a biopharmaceutical company focused on the discovery, acquisition, development and commercialization of drugs for the treatment of debilitating and often life-threatening diseases for which there are currently limited patient options. I have had a few conversations with some of the individuals at Retrophin and have come away from those conversations excited for the future of care, advocacy, education, awareness, treatment, and research for CTX patients. I am eternally grateful for the work and contribution that Manchester and their staff provided as the manufacturers of Chenodal and credit them for having the confidence to hand over the future of CTX to Retrophin. Here is a link to the press release about the acquisition: http://amda-1pla2o.client.shareholder.com/releasedetail.cfm?ReleaseID=825424

I wanted to write a quick note to announce the CTX Meeting happening in Illinois in July. Take a look at the agenda. It’s shaping up to be exciting and very informative. I hope a lot of families are able to attend. I look forward to meeting you/seeing you again! Here are the details:

ULF/STAIR Family & Professional CTX Meeting

Thursday July 19th Arrival

Friday July 20th Meeting

Family Registration: $100.00

Professional Registration: $300

REGISTER NOW

CTX 2012 Meeting Tentative Agenda

As part of my involvement as a CTX patient advocate, I will do a Google search periodically for CTX to see if any new research articles have been published. The goal of this is to locate potential resources or advocates in the medical community who may be able to contribute to helping us accomplish our continually growing list of goals for CTX patients with a diagnosis and for those yet to be diagnosed.

The other day I was doing just this and to my surprise happened across an article by Fernando Quintero published on April 4th, 2010 in the Orlando Sentinel. The article highlights a dermatologist, Dr. Michael Steppie who was in New Orleans at the time a family came to him presenting with Xanthomas on a woman, her sister, and her cousin. Dr. Steppie performed an examination and determined that the xanthomas were not characteristic of a common cyst that he typically sees. He enlisted help from a researcher who sent him numerous articles on CTX. It didn’t take long for Dr. Steppie to surmise that he was likely looking at a set of CTX cases. Dr. Steppie contacted Dr. Salen and a CTX diagnosis was confirmed in the 3 individuals. There was a video segment filmed to with the article that I assume aired on a New Orleans news channel, you can view the video segment by clicking here.

This experience drove Dr. Steppie to want to be a patient advocate and realize the need for patient and physician education about CTX. To that end, Dr. Steppie has filmed a segment for Mystery Diagnosis! That’s right, there will now be TWO separate segments about CTX on the Mystery Diagnosis show. This may be first, I am not aware of any other disorder that has had 2 segments filmed for the show. This is outstanding news and I am pleased to see that the producers of the show are able to see the importance of raising awareness about CTX to have filmed two separate segements about it. I am quite excited about this and anxiously await the first airing of the show which will be on airing on Monday August 2nd at 9 p.m. on the Discovery Health Channel. Be sure to check your local listings to make sure you don’t miss it. Here’s the description of the show:

Mystery Diagnosis

The Girl Who was Covered in Bumps

TV-PG

Holly experiences horrifying pain that coincides with her menstrual cycle, will this threaten her chances for having children? Then Tina is struggling to keep up in school. Life gets worse when disfiguring growths start to form all over her body.

For those who haven’t seen the segment that Angie and I filmed for the show, you can view it by clicking play on the video above.

I have reached out to Mr. Quintero and to Dr. Steppie to open a line of communication and to ask how Dr. Steppie may be able to contribute as a patient advocate in the field of Dermatology. I admit that I had not thought of the Dermatology field as one that would see, nor assist in getting a diagnosis for a CTX patient. It just proves that no stone should be left unturned when it comes to CTX.

Work continues on developing a newborn screening test for CTX. A couple of weeks ago I spent an afternoon with Dr. Andrea DeBarber and was able to get a glimpse into her world and her work on this important facet of this disorder. She continues to amaze and impress me with her dedication and skill as a researcher. I am very fortunate to know and have people like her on my side in this fight. Thank you Andrea.

Lastly, I want to just say a big thanks to Manchester Pharmaceuticals and Centric Health Resources for all they’ve done so far in helping the patients and families in getting medication and keeping it coming on a regular basis. I know I speak for everyone when I say that this has been a huge relief in managing the care of those in our lives affected by CTX.

That’s it for now, I’ll post more as new developments occur with Dr. Steppie.

As previously posted, on October 22nd, 2009 the FDA issued approval to Manchester Pharmaceuticals, Inc.&trade to manufacture a version of Chenodiol 250mg tablets, which is marketed in the United States under the trade name of Chenodal&trade . As a result, new options have become available regarding the care and management of CTX, including the method for ordering medication. Previous to the FDA approval, the only option was to order Chenofalk from John Bell & Croyden with the patient absorbing the entire cost of the medication. With Chenodal, insurance and/or Medicare/Medicaid coverage is available to subisidize the cost of the medication and a new process has been established for obtaining the medication.

In addition to manufacturing Chenodal, Manchester Pharmaceuticals has partnered with Centric Health Resources to establish the Chenodal Total Care Program(CTCP). The CTCP aims to serve as a single point of contact for CTX patients to manage their care including an established medication ordering process, as well as working with Health Insurance or other medical assistance providers for issues regarding insurance coverage. Manchester has committed to ensuring that all CTX patients will have access to Chenodal regardless of their prescription coverage. Most reading this should be registered with the ULF and have possibly received the mailers with the information to register with Centric, however for those who haven’t I wanted to post the information here.

Anyone not currently enrolled in the CTCP is encouraged to contact the CTCP now at 1-866-758-7068 to begin the process of setting up their first order of Chenodal or to obtain more information about the benefits of the CTCP. Customer Service representatives are available to assist you Monday through Friday 7:00 AM to 6:00 PM CST.

It’s APPROVED!!! After a very long time and lot’s of effort from all of the folks involved, we just got word today that the FDA has approved Chenodal for use in the US to treat CTX patients. Chenodal is the new name that the CDCA medication will be marketed under in the US. This means no more dealing with importing it from London, insurance coverage, and a host of other great benefits that will come out of this. Looking back over the site, I see that we started discussions about a US available supply of medication in July of 2006 so here we are just over 3 years later and finally it’s coming to fruition. Patients will have the medication available within the next 2 months!!!

I can’t possibly express my gratitude to everyone who put in the time, not to mention a lot of money to get this project across the finish line. Without their help this would have taken much much longer to accomplish. This is just the beginning of things to come but it’s a HUGE hurdle to overcome and will open doors to many more things that will benefit CTX patients not only in the US but also worldwide.

Things have been pretty quiet for a while but I feel that it’s not going to stay that way for too long, and that’s a very good thing.