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:
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:
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.