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.

Well, it’s been a very long time since the last update and a handful of things have happened since. We continue to move toward an FDA approval for CTX treatment. The two companies who are working on this, Sigma Tau and Manchester Pharmaceuticals are in various stages of review by the FDA for their individual efforts toward accomplishing the goal. No firm dates have been set yet but I fully expect to see something solid by the end of the year with a hope that manufacturing and distribution of the newly approved medication in production within the first quarter of 2010. As we’ve learned through all this, patience is paramount and any number of factors can hold things up but the most important thing to note is that the medication in its current state will continue to be available until the new medication is fully available.

I am also participating in a steering committee for developing a Health Management Program for CTX patients. The program is being developed by Centric Health Resources. Centric Health Resources is a company that strives to deliver prescribed therapies and specialized health management services to individuals affected by orphan diseases. The basic goal of the program is to develop several components to a comprehensive treatment protocol to manage patients and their treatment regimen as well as to develop literature for physicians to distribute to patients that have references to resources available to patients and/or their caregivers. This is greatly simplifying it however. Please visit their site to learn more about them.

Lastly, Dr. Andrea Debarber who works as an Assistant Professor in th BioAnalytical Shared Resource lab in the OHSU Department of Physiology and Pharmacology continues to make amazing progress in her research of developing a newborn screening test for CTX. In order to continue her research she relies on grant funds from various organizations. One of the(if not the) biggest grant providers for disease research grant money is the National Institutes of Health(NIH). Recently the NIH announced an expansion of the Rare Diseases Clinical Research Network, which consists of a second phase which includes funding for 19 additional research consortia. OHSU is one of the research consortia included in the expansion which designates 117 Million dollars over the next 5 years to be distributed for research. Several of OHSU’s research projects will benefit from this grant money one of which is the CTX newborn screening test research. This is phenomenal news for us, and of course the researchers as this has been one of the many goals that we’ve had as part of our bringing increased attention to CTX from a patient advocacy perspective.

The NIH press release can be seen here

That’s about all for now, more to come as additional developments occur.

It’s official! Sigma Tau has issued a press release regarding it’s acquisition of the Chenofalk brand and formula and it’s commitment going forward to supply the medication for CTX sufferers worldwide. It’s nice to see these fruits of our labors. Angie and I have worked hard(along with many others, Sigma Tau, the ULF, etc.) to make this a reality. It’s great day!

PHARMACEUTICALS, INC.

Rare dedication

FOR IMMEDIATE RELEASE:

Sigma-Tau Pharmaceuticals Seeking FDA Approval of Medicine for Rare Genetic Disease Affecting Less Than 100 Americans

Jul 09, 2008, GAITHERSBURG, MD Sigma-Tau Pharmaceuticals, Inc. is pleased to announce the acquisition of Chenofalk(R) (chenodeoxycholic acid) from the Germany-based, Dr. Falk Pharma GmbH. Chenofalk(R) is approved in Germany for the dissolution of gallstones, and Sigma-Tau’s German affiliate, Sigma-Tau Arzneimittel GmbH, will immediately assume distribution of this important medicine, ensuring there is no interruption in availability to patients.

The acquisition of Chenofalk(R) is important not only to ensure continued supply in Germany, but Sigma-Tau Pharmaceuticals also intends to accumulate the appropriate clinical and regulatory documentation required to support the filing of a New Drug Application (NDA) with the U.S. Food and Drug Administration (FDA) for the use of chenodeoxycholic acid (CDCA) in the treatment of Cerebrotendinous Xanthomatosis (CTX) disease. CTX is an extremely rare genetic disease which is believed to affect fewer than one hundred people in the U.S.

“We are pleased to add CDCA to Sigma-Tau’s rare disease portfolio. Sigma-Tau is committed to the development of medicines for patients with rare diseases, and the acquisition of Chenofalk(R) provides relief to patients concerned about a disruption in supply,” said Gregg Lapointe, Chief Executive Officer of Sigma-Tau Pharmaceuticals. “Acquiring the underlying clinical, manufacturing and safety data contained in the Chenofalk(R) dossier is also an important milestone in Sigma-Tau’s goal of ultimately securing FDA approval for the use of CDCA in patients with CTX.”

CTX is a metabolic disorder with no FDA-approved treatment in the United States. People with this disorder cannot break down certain cholesterols effectively. Consequently, these cholesterols accumulate in various areas of the body. Some features of CTX include chronic diarrhea during infancy, clouding of the lens of the eye (cataracts) developing in late childhood, progressively brittle bones that are prone to fracture, and neurological problems in adulthood, such as dementia, seizures, hallucinations, depression, and difficulty with coordinating movements (ataxia) and speech (dysarthria).

In 2007, Sigma-Tau obtained an Orphan Drug Designation from the FDA for the use of CDCA in CTX. Since then, Sigma-Tau has worked closely with the United Leukodystrophy Foundation (ULF) to better understand the impact of CTX disease on patients and the importance of proper newborn screening for the disease.

About Cerebrotendinous Xanthomatosis (CTX)

Cerebrotendinous Xanthomatosis (CTX) is a rare, autosomal recessive metabolic disorder caused by mutations in a gene called CYP27A1, which produces an enzyme called sterol 27-hydroxylase. Sterol 27-hydroxylase is required to turn cholesterol into bile acids, which are important in the absorption of fat in the intestine. In addition, when sterol-27 hydroxylase is not working properly, cholesterol and precursors of bile acids will accumulate in tissues throughout the body causing a variety of physiologic and neurological problems.

About Sigma-Tau Pharmaceuticals, Inc.

Sigma-Tau Pharmaceuticals, Inc. is a U.S. based, wholly owned subsidiary of the Sigma-Tau Group, and is dedicated solely to the global development and commercialization of medicines for patients with rare diseases. Sigma-Tau Pharmaceuticals, Inc. is based in Gaithersburg, Maryland.

Since 1989, the company’s products have been focused on rare diseases, kidney disease, and cancer. With more than 6,000 identified rare diseases that affect approximately 25 million patients in the U.S., Sigma-Tau places its considerable scientific resources behind the development and commercialization of compounds that benefit the few. The company has a substantial development program focused on transplant, cancer, inherited genetic disorders, malaria, and other areas of unmet medical need. For more information about the company, visit www.sigmatau.com.

About Sigma-Tau Group

Sigma-Tau Group is a leading research-based Italian pharmaceutical company with a 2007 consolidated turnover equal to approximately US$ 980 million and over 2,500 employees worldwide. Therapeutic areas in which Sigma-Tau Group’s research and development are focused include cardiovascular disease, metabolism, oncology, immunology, central and peripheral nervous system with 47 projects, 30 clinical indications studied with 17 proprietary molecules, most of which are new and original. For additional information about Sigma-Tau Group, please visit www.sigma-tau.it.

About United Leukodystrophy Foundation (ULF)

The United Leukodystrophy Foundation (ULF) is dedicated to helping patients and family members afflicted with various types of leukodystrophies including CTX. The ULF is committed to the identification, treatment and cure of all leukodystrophies through programs of education, advocacy, research and service.

For more information, please contact:

Marc Tewey

Vice President of Commercial Operations

Phone: 301-670-1518

Email:Marc.Tewey@sigmatau.com