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.


Report from the ULF annual conference

I recently attended the annual ULF Family Conference.  In a historical precedent the conference was held this year outside of Dekalb, IL for the first time since the inception of the ULF.  The conference was held in Baltimore, Maryland from July 31st through August 2nd, 2014.  The turnout this year was the highest that I can recall in recent memory.  It was nice to see the upswing in attendance and I can only hope that it is a continued trend.

It was great to see everyone again, meet new folks, and re-connect with some that I haven’t seen in a while.  The venue was great and despite the added logistics of having it in a new location for the first time ever, Kirsten, Nancy, and the rest of the staff, board members, volunteers, etc. made it a tremendous success.  Early feedback from attendees is overwhelmingly positive.  The final night of the conference was capped off with a cruise around the Baltimore Inner Harbor where a great time was had by all.

I was also fortunate to meet the rest of the Medical Science Liaison(MSL) Team from Retrophin.  Like the rest of the individuals from Retrophin that I’ve met, I was left with a great feeling about the future for diagnosed, and yet to be diagnosed CTX patients.  They are as passionate as I am about raising awareness, diagnosis, treatment, and newborn screening for CTX patients.  I look forward to working with them in the future in whatever capacity I can to facilitate their efforts.

Trip to New York City

We have just gotten back from a trip to New York City.  We had the opportunity to travel there to meet the staff and team behind the CTX project at Retrophin, Inc.

I can’t say enough about the group that has been assembled to head this effort up they are truly a group of compassionate, inspired, and driven individuals.  I feel that they have done more to advocate and push forward CTX awareness and treatment in the month or so that they’ve been involved than has happened in the last several years.  I have high hopes for the future of CTX patients, treatment, and research.

We had a great time touring around the city.  It’s a fun city to people watch and makes one feel dwarfed after being used to Portland.  We got a chance to see Times Square(Ashley’s favorite), Central Park, The Statue of Liberty, Grand Central Station, Rockefeller Center, and some other attractions.  I refused to take a car anywhere because I wanted to see the city from ground level, which included taking the subway, we were lucky enough to catch some of the talented street/subway performers as well.  Our only complaint? BRRRRR it was COLD!

We would love to get back there during a warmer time of year.

New page on the site

A quick note to say that I’ve put a new page on the site. As part of the conversations I had with Retrophin staff, and observations of information provided to me via e-mail, it was a stark reminder that nowhere on the site did I have a single place to go to get information on the steps to take if someone is facing a potential CTX diagnosis. To satisfy that need I have created a page that describes the steps that one should take in this process. I provide information on testing labs for both blood and genetic testing, website and contact information for Centric Health Services, and a blurb and link to the Inspire CTX community where one can interact with other CTX patients. Lastly, Dr. Andrea DeBarber at OHSU, who is working toward developing a newborn screening test has allowed me to provide her e-mail as a contact for those who might have other questions. You can get to it by clicking the Diagnosis and Treatment menu item above.