The Child Neurology Society Annual Meeting, held in Austin 10/30-11/2, was a busy meeting, packed with interesting sessions and attendees from all of the world. While there was not a lot of late breaking news, it was an excellent opportunity for providers engaging in both clinical care and research to share both practice and clinical results with others in the field.
PPMD was represented in both the Association of Neurology Nurses (ACNN) meeting as well as the Child a Neurology Society (CNS) meeting. I was honored to have been selected to give a 1 hour presentation at the ACNN meeting to a group of more than 70 nurses, most of whom were advanced practice nurses who care for neuromuscular patients. I was able to give an overview of Duchenne, as well as discuss the complex process of genetic evaluation and mutation identification. The majority of my talk reviewed the CDC Care Considerations and the Transforming Duchenne Care Initiative (TDCI), discussing discrepancies in care across the US and the necessary components constituting optimal care. As nurses are the first point of contact for parents and patients, and integral to clinical processes, they are in an excellent position to improve care. Everyone was interested to know what care they should be providing and in doing what they can to improve the care they are delivering. Overall, it was a very good session.
Current & Upcoming Clinical Trial Discussions
The majority of discussion in the CNS meeting around Duchenne involved current and upcoming clinical trials, and the ethics around gene based therapies. Jerry Mendell reviewed his findings in both the Follistatin and Drisapersin trials. One piece of exciting news involved addressing the immune response of the body to the AAV virus now being used to deliver therapeutic agents to cells. Some people have a natural antibody to the virus. Those people with the antibody will have an immune response to the viral vector and the therapy being delivered may not be effective. In order to counteract that immune response, Mendell's lab had developed a process of plasmapheresis. Plasmapheresis involves removing the blood, separating the blood into its separate components (blood cells, plasma and antibodies), removing the antibodies then returning the blood to the patient. The body will begin to develop new antibodies with in just a few hours. During that antibody-free period, Mendell's lab injected a virus containing a large amount if the microdystophin gene. Results of this process showed a 500 fold increase of the microdystropin gene in animals who had undergone plasmapheresis. This process, if successful in humans, would allow use of the viral vector not only in people without an antibody to the virus, but in people with antibodies as well. This would greatly increase the number of people eligible for novel therapies involving the use of viral vectors. After the virus was injected, the body did not develop antibodies to the virus. This is a new procedure in the early phases of investigation, but it is very exciting.
Therapeutic Misconceptions and Benefit/Risk
A poster involving PPMD's work, "Expectation and Decision-making in Clinical Trials for Duchenne and Becker Muscular Dystrophy" (authors Holly Peay, Hadar Sheffer, Kathi Kinnett and Aad Tibben) was presented during the poster session. This information has been presented by Holly in the past. Several providers stopped by to discuss parent and clinician expectations for clinical trials, and to discuss how we can all work together to improve the clinical trial process. I was also able to inform attendees at a breakfast session, "Ethical Considerations in Gene Therapy," of the findings and ongoing efforts of PPMD around therapeutic misconceptions and Benefit/Risk. All were appreciative our efforts which are enabling research and clinical trials to proceed in a thoughtful manner, with parents and patients as the focus of the discussion.
I was honored to represent PPMD and your voices at this important meeting. If you have any questions, please let me know!