Julie Stout presented the beta study for HD-CAB, a Standardized Cognitive Assessment Battery for Clinical Trials, which included 250 participants across 20 English-speaking sites in order to vet the HD-CAB assessment tool. HD-CAB was developed to produce cognitive assessment data that is accurate and high in quality. The study was run as though it were a clinical trial, including site monitoring and a double-blind study team. Goals for the HD-CAB included sensitivity, reliability, feasibility, tolerability, and practice effects. Tests in the HD-CAB include Symbol Digit Modalities, Paced Tapping, One Touch Stockings of Cambridge, Trail Marking A & B, Emotion Recognition, and the Hopkins Verbal Learning Test. The HD-CAB beta study demonstrated that reliability in cognitive assessment is best obtained under optimal conditions where the participant was well rested and the examiners were confident and efficient.
Chandler Swope from HDYO discussed the value of involving young people in the process of research during Novel Outreach Methods. Youth engagement can be achieved through simple, and easy to understand depictions. Peer networks among HD-affected youth are also a meaningful component of getting young people engaged in clinical research. Kevin Biglan from the University of Rochester discussed his telemedicine study which showed that telemedicine can increase access to care for individuals with HD. 83% of the study’s telemedicine visits were completed as scheduled. Motor assessments conducted via telemedicine were shown to be just as reliable as those conducted in person. Katie Jackson with Help4HD shared the impact of social media presence within the HD patient community. The Help4HD model utilizes integrated communications and deep connections with HD-patient, pharma, and regulatory agencies to improve the flow of information.
In a new study, William Yang showed that ataxia-telangiectasia mutated (ATM), a pivotal signaling molecule in the DNA damage response pathway, can modify the toxicity of the mutant protein that causes HD. ATM signaling activity was aberrantly increased in HD cells, animal models of HD, and postmortem brain tissue from HD patients. Reducing ATM signaling by genetic manipulation or using small-molecule inhibitors of ATM consistently reduced HD protein toxicities in cellular and animal models.