CTX Prevalence Study Kickoff meeting

I was invited to attend a kickoff meeting for a CTX Prevalence Study that is being conducted by Retrophin, Inc. on Thursday, March 26th.  I spoke at this meeting to the Ophthalmologists in attendance to provide an example of a patient/caregiver’s experience of the diagnostic journey and to highlight how key the role that Ophthalmologists play in helping to identify potential CTX patients. There was some great dialog pertaining to the various parameters of the study and I am confident it will go a long way to not only potentially identify currently undiagnosed patients, including those who’ve already had cataract surgery and did not go for further screening, but will also help to identify those who may find themselves in the Ophthalmologists office with cataracts and possibly CTX.  I learned in my visit to Salem that disease prevalence is a key criteria when it comes to identifying and approving a test to be implemented into the newborn screening program.  I also picked up some literature that Retrophin developed, one of which is an article titled ‘Ophthalmologists and Cerbrotendinous Xanthomatosis (CTX): Making the Diagnosis.  The other is a two page breakdown of the disorder, symptoms, etc.  I am awaiting electronic copies of them at which point I will post them to the site in the links section.

Additionally the 41st annual meeting of the American Association for Pediatric Ophthalmology and Strabismus was being held as well.  I attended a talk titled ‘Phenotype-Genotype Correlations in Pediatric Cataract, Including Conditions You Don’t Want to Miss’ where Dr. Arif Khan  and Dr. Elias Traboulsi were the speakers.  It was very interesting to learn of the other disorders that can cause pediatric cataracts.  Of course my favorite part was the section of the talk where Dr. Khan spent a considerable amount of time on CTX.  There were some good questions posed afterward and the and the turnout was great.  I estimate about 200 people were in attendance.

Retrophin had a booth set up at the AAPOS meeting hall:

Retrophin Booth

A few of us were able to get out and listen to some music and enjoy some of the sights and sounds of New Orleans:

Retrophin Crew

Everyone I’ve met on the Retrophin team has been great.  I am fortunate to know them and grateful that they include me in their endeavors to help CTX patients by educating physicians, raising awareness and expanding testing and treatment options for patients.  We have come a long way in the 11 years since Ashley’s diagnosis and it’s not without contributions from many people and for that I am very thankful.

Visit to State Capitol to talk about newborn screening

I went to our State Capitol on Tuesday, March 17th and met with the Representative from a neighboring district to talk about newborn screening, specifically for Vitamin D and for Krabbe. This was in support of two other families who contacted me and asked if I could attend.

Two heartbreaking situations. As is typical with Leukodystrophies, one of the famies has two children with Krabbe, one who was not diagnosed and is in the throes of the disease. The younger brother was diagnosed as a result of his brother’s symptoms, has had treatment and is doing great. She recently had an article published online about her family – Family’s Bittersweet Journey Spares One Son From Rare Disease, But Not the Other.

Overall the meeting went great and we managed to hijack a 30 minute slot into an hour and 15 minutes :) I was able to give them a lot of information about CTX, mentioning that a newborn screening test is being developed and will have something to pilot in the hopefully not too distant future. I learned a lot about the process for sure which is good knowledge to have going forward and made a strong ally in the fight to get tests into the NBS program in Oregon.

He does have an uphill battle as the Chair of the House Health Care Committee does not see eye to eye on some of these initiatives, Krabbe being one of them. He says it’s too rare, the prevalence isn’t high enough. The individual I met with yesterday is going to use some of his peers to put pressure on him though to hopefully change his mind. So it’s good to know he’s willing to engage in that fight. I guess we can use our votes to change the situation if it comes to it though. Just have to convince enough people :). One thing is clear though, knowing the prevalence of CTX is key to pushing NBS with CTX.

Interview with Caring Voice Coalition

I did an interview with Robin Lawson from the Caring Voice Coalition. They are a nonprofit organization that supports patients with chronic illnesses through a variety of means, including issuing a quarterly Community magazine.  I was referred to them by some folks at Retrophin to do the interview to help raise awareness as part of a partnership to fund a free CTX testing program that will have some oversight or be fully administered by the folks at Caring Voice Coalition.

I’ve seen the draft and it looks great. I’ll link the article in a subsequent post once it gets published.

Updated site

I recently updated my site to bring a fresher, more modern look to it.  I have retained the content of the old site, and also have added a videos page where you can see the 3 videos that I know of that feature CTX.  Two of the videos are the segments from the show Mystery Diagnosis, one that we did that profiles our family, and one that features the Ankar family.  In addition, I added a third video that also profiles the Ankar family and Dr. Michael Steppie, a Florida dermatologist who helped the Ankar family finally find a diagnosis.  2 of these videos are being hosted on my About CTX youtube channel while one is being hosted on vimeo.com.  You can watch them by clicking here or going to my youtube channel.

Lastly, I have added an e-mail contact form to the right side of the page.  This will make it easier for people to send me an e-mail straight from the site.

Retrophin Announces Acquisition of Exclusive Right to Purchase Cholic Acid from Asklepion Pharmaceuticals

This is certainly big news.  If my experience is any indicator, this will only serve to be a benefit to patients who are suffering from Bile Acid disorders.  URL and text from press release follow.


NEW YORK & BALTIMORE–(BUSINESS WIRE)– Retrophin, Inc. (NASDAQ:RTRX) and Asklepion Pharmaceuticals, LLC, a privately held rare disease pharmaceutical development company, today announced the signing of a definitive agreement under which Retrophin has acquired the exclusive right to purchase from Asklepion, all worldwide rights, titles, and ownership of cholic acid for the treatment of bile acid synthesis defects, if approved by the U.S. Food and Drug Administration(FDA). Under the terms of the agreement, Retrophin will pay Asklepion an upfront payment of $5 million and up to $73 million in milestones based on approval and net product sales, plus tiered royalties on future net sales of cholic acid. Retrophinhas secured a line of credit from current lenders to cover necessary payments.

“We are very pleased with this agreement, which has the potential to significantly accelerate Retrophin’s growth in 2015 and beyond,” said Stephen Aselage, Chief Executive Officer of Retrophin. “Cholic acid is a natural complement to our current commercial portfolio and upon its approval, Retrophin would be positioned to become the leading provider of bile acid treatments for a number of rare diseases.”

Mr. Aselage continued, “The effort by Asklepion and its investigators is a testament to their dedication and hard work in bringing an important medication closer to the marketplace. The disorders treated in their clinical trial are devastating and we are grateful to have an opportunity to address those patients’ needs.”

Cholic acid is being considered for approval in a late-stage review by the FDA and is currently approved in Europe for the treatment of inborn errors in primary bile acid synthesis. It restores endogenous bile acid pool levels while inhibiting abnormal bile acid synthesis. The clinical use of cholic acid has been documented in medical literature for several single enzyme bile acid synthesis defects since the mid-1990s.

“This agreement could represent a significant milestone for both our company and patients suffering from bile acid disorders,” said Gary Pasternack, Chief Executive Officer of Asklepion. “If cholic acid is approved, we are confident that Retrophin’s expertise in this area would allow for the greatest number of patients to benefit from this treatment.