Thursday, January 24, 2013

Update on RDH12 from Mat and Dr. Thompson

Mat finished his blog post for me in the wee hours last night.  Just kidding.  He actually finished it and I hope this helps explain what we learned.

I wanted to say, also, that Mike (our other RDH12 dad that went with Mat) took a framed picture of his daughter Bella and our Finley together, and Dr. Thompson put it on her desk right next to her computer.  She also took our RDH12 magnets for their lab as well.   So now we are right there for her to see each day at work.

Without further ado, here is Mat:

On Monday, Mike Fiore and I had the chance to visit the laboratory of Dr. Debra Thompson at the
University of Michigan. Dr. Thompson was the recipient of the second ever research grant from the RDH12 Fund for Sight and is the leading expert on RDH12 biology. She has also taken the lead in developing the gene therapy for RDH12.

It was a full day. We were given tours of the laboratory, the vivarium (where the mouse work is
conducted), the clinical and diagnostic facilities, and the operating rooms in the hospital. We also got a chance to meet with Dr. Thompson’s many collaborators that work in these diverse areas. The facilities at the University of Michigan and its Kellogg Eye Center provide a comprehensive environment to take a potential therapy all the way from concept to execution. From the lab to the clinic.

When we sat down to discuss the progress of Dr. Thompson’s research, we were quite pleased with
what we heard. Currently her work is focused on ensuring that the gene therapy is safe. She already has the data that shows that by putting RDH12 back into a mouse missing that gene corrects defects in that mouse. The concern is that if the gene therapy expresses RDH12 in the wrong place or in the wrong amount, damage could be done to the eye. Thankfully, the early data seems to indicate that there are no negative consequences.

One topic that we wanted to make sure we covered while we were with Dr. Thompson was the future - where were we headed and when would we get there. Lest we ever forget, our goal is to get this gene therapy into the clinic as soon as possible. We wanted to make sure we were doing everything we could to make that happen. In real practical terms, that means enabling a meeting with the FDA (termed a pre-IND meeting.  IND means Investigational New Drug) to understand from them what they are going to require before they grant permission for a clinical trial. Dr. Thompson felt it was necessary to get more safety data from her current mouse study before visiting the FDA. As a result, we are going to work with her to get her the extra support necessary to speed the delivery of that additional data. We also discussed other laboratory work that we know is going to be required by the FDA. Recognizing that these experiments are a necessity, we wanted to ensure they were happening as soon as possible. Again, Dr. Thompson was receptive to stepping up the timetable for delivering this work. She is going to work with her collaborator, Dr. Ali, to establish a plan for this work so it can be initiated.

Mike and I came away from our visit knowing that our children’s vision is in good hands. We are on the threshold of big things. Our goal is within sight. When we discuss having meetings with the FDA about a clinical trial, they are no longer fanciful ruminations. All of the fund raising we have done is now coming into play. Because of it, we have the resources now to back up these requests for expedited work. When Dr. Thompson tells us that extra personnel will make the difference, we can deliver that to her. We are fortunate to be in that position because of the support of our friends and family. A cure will never come fast enough for us. But we have every reason to believe it is coming.

1 comment:

Anonymous said...


It's so good that ther's hope for the kids who have RDH12 LCA!