Wednesday, May 7, 2014

An update on the RDH12 Research

Last Monday, Mat and a few of our other LCA families had a chance to go to Michigan to speak with our RDH12 researchers Dr. Debra Thompson and Dr. Robert Ali.  It was a good meeting, and the researchers seeing the kids did a lot to motivate them to get moving.

Mat wrote a little blip that I posted on our RDH12 group on facebook, so I will add that here, and then a few pictures from the trip.  Only Finley and MAt went and I stayed with the other two.  They had a great time, and the kids getting together is so important.  I hope we can get them all together more often.

"On Monday, a number of RDH12 families traveled to the University of Michigan in Ann Arbor for a face to face meeting with Drs. Debra Thompson and Robin Ali. Dr. Thompson’s lab, with funding from the RDH12 Fund for Sight, has been developing a gene therapy for children with LCA due to mutations in RDH12. Dr. Ali is a clinician who was involved in the first gene therapy for LCA and has now partnered with Dr. Thompson to bring the RDH12 gene therapy to patients. Drs. Thompson and Ali provided a comprehensive review of all of the research they have conducted on RDH12 to date as well as their plans to get approval from regulatory agencies to start treating people. In addition, the families were given a tour of the laboratories at the University of Michigan as well as provided the opportunity to meet other researchers and clinicians working on retinal diseases. The message that was delivered to the visiting families was one of hope and promise. The current plan, as relayed in the meeting, is to have a meeting with the FDA in the fall of this year. This meeting is an important milestone for the program. It will determine just how long it will take before patients could be potentially treated. If the FDA responds positively to the data that Dr. Thompson and others have generated, it opens the door to filing for a clinical trial start. Once that happens, the next big hurdle and therefore the next big cost will be manufacturing the gene therapy in the quantities and quality required for use in humans. In order to make sure Dr. Thompson and Dr. Ali can seamlessly move to this next stage, the RDH12 Fund for Sight must be ready with the required support. And with continued backing of the RDH12 community of friends and family, we will hopefully be able to meet this goal. The meeting closed with a word of thanks from Drs. Thompson and Ali for the assistance of the RDH12 Fund for Sight. Without the grants that the Fund has been able to provide, we would not be talking about plans for a clinical trial and treatment for our kids would still be a distant dream. And of course, the RDH12 Fund for Sight thanks Drs. Thompson and Ali for their hard work on our children’s behalf and their continued dedication to this cause."

Dr. Thompson talking to the kids and adults as she shows them around the lab.
 Dr. Thompson's lab with the kids
 Dr. Thompson and Dr. Ali 

 The meeting
 4 of the kids that went.  Left to right: Abigail (age 9), Ben (age 8), Bella (age 8), Finley (age7).  Just 4 of the 19 kids we know about with RDH12.  When they are together, if you look closely, you can tell they all share the LCA defect.
 The rental car Mat and Finley had.  She loved it, so she asked Mat to take a picture

1 comment:

Anonymous said...

They are all so grown up and ful of promise