October 13th, 2009

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.

July 10th, 2008

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!

Childhood Cataracts


Rare dedication

Childhood Diarrhea


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


May 1st, 2008

We just got back from a cruise aboard the Liberty of The Seas, the sister ship of the Freedom of the Seas which is the ship that we were on for Ashley’s Make-A-Wish cruise. The Liberty took us to the Eastern Caribbean with the port stops being Philipsburg, St. Maarten, Labadee Haiti, and San Juan Puerto Rico. We had a great time as we did on our last cruise but the weather wasn’t quite as nice as the Western Caribbean cruise last year. Overall I think we prefer the Western Caribbean ports. We are looking to book on the next Royal Caribbean flagship, the Oasis of the Seas.

November 19th, 2007

I have a little bit of news to report. First, through some negotiations, the Falk Pharma foundation has agreed to manufacture CDCA through the end of 2008. This means that the deadline regarding access to CDCA that we thought we were facing at the end of this year has been extended and everyone will continue to order CDCA through John Bell & Croyden in London.

I would guess that this deadline is somewhat flexible though as I don’t believe that they will strictly cut off access December 31st but would allow current supplies to be ordered until they are exhausted. I know that Sigma Tau and the FDA are diligently working on their efforts to drive the project forward of manufacturing CDCA and distributing it in the US under a designated CTX treatment label and am confident that it will be up and running before the end of next year. Everyone involved has the best interest of the patients in mind and know the time table. I feel very priviledged to have a team of people working for the health of my child, and all CTX patients in the US.

Mystery Diagnosis continues to run the CTX episode, it was on again last night and also has the following dates coming up for additional airings:

  • Monday, November 26th at 10:00 p.m.
  • Tuesday, November 27th at 1:00 a.m.
  • Saturday, December 1st at 7:00 p.m.
  • Sunday, December 2nd at 2:00 a.m.

September 3rd, 2007

I just wanted to make quick update to announce additional airings of the Mystery Diagnosis episode :

  • Saturday, September 8th at 8:00 p.m.
  • Saturday, September 8th at 11:00 p.m.
  • Sunday, September 9th at 2:00 p.m.

Also, the name of the episode is Frenetic Genetics, here’s the episode description:

Ashley’s illness began with chronic diarrhea as an infant, and branched out to such diverse symptoms as ADHD and cataracts. Nissa, an ER nurse, took sick with the flu and was diagnosed with Lymphoma before swelling in her hands gave her illness away.

That’s all for now.