Under the direction of Dr. Kathryn Swoboda, The University of Utah Pediatric Motor Disorder Research team has been busy working on several current and upcoming projects for AHC. The clinical trial of Sodium Oxybate (SO) is now in its final stages with all of the six targeted participants enrolled. Four of the six participants have completed the entire one-year study and the process of validating and verifying the available data for each study participant is under way. We are continuing to follow-up with the remaining two active participants who have four to six months left in the maintenance phase of the clinical trial.
The AHC online registry and participants enrolled in the Pediatric Motor Disorder study has continued to grow with 58 families now enrolled! We are also glad to report that 26 families have completed our AHC medical questionnaire, which is an increase from 17 completed last year. The AHC registry and medical questionnaire, have proven to be valuable tools in gaining a better understanding of the characteristics of AHC and in being able to contact families in the future about new treatments for AHC or studies for which they may be eligible. For more information about the AHC registry and Medical Questionnaire please visit our website at: http://medicine.utah.edu/neurology/research/swoboda/ahc/registry.htm
The search for the genetic basis for AHC received a significant boost with the award of the Pepsi Refresh grant. As genetic analysis continues to be more and more advanced, the new grant has allowed us to use the latest genetic sequencing technology available. With prior studies into AHC, we have attempted to do targeted analysis, looking for mutations in genes that have been identified in other better-understood diseases, as well as comparative genome and single nucleotide polymorphism arrays that could determine if an abnormal number of copies of a gene or highly variable (but not clearly abnormal) nucleotides are shared in children that have AHC. As yet, no answers have been found, despite extensive investigation. With the current technology, complete sequencing is finally available. As a result, we will have unparalleled resolution of each subject’s genome. Theoretically, this should prevent any genetic mutation from being concealed (within the 3 billion nucleotide pairs in the human genome) and give us the best chance to find the cause (or causes) of AHC. However, the sequencing of each patient will generate massive amounts of data, which will take extensive analysis. Patience will be critical, but we are hopeful that this round of testing will give us our best chance yet at finding the answer.
We greatly appreciate your support and dedication to our efforts in moving AHC research forward.