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Stanford Huntington’s Disease Patient Care Symposium

By Maria Suarez-Nieto and Sepehr Asgari

On the 2nd of November, 2019, the Stanford University School of Medicine’s Huntington’s Disease Center of Excellence held their inaugural Stanford Huntington’s Disease Patient Care Symposium.  Hosted in Mountain View, California, the event saw the participation of HD patients, caretakers, healthcare professionals, students, and members of the broader HD community. The symposium highlighted the latest advances in HD research from multiple perspectives, providing those in attendance with valuable new information.  

The morning started with Daniel Jarosz, PhD and Assistant Professor of Chemical and Systems Biology and Developmental Biology at Stanford University, who dreams of the day when a treatment for HD exists.  His informational talk focused on highlighting breakthroughs in basic science research for HD and other neurodegenerative diseases. Dr. Jarosz opened by explaining the work of Judith Frydman, who found that a chaperone protein, a type of protein that assists other proteins in carrying out their function, called TriC binds to the ends of Huntingtin protein fibers.  This prevents the Huntingtin protein from aggregating, thereby suppressing the toxic effects of Huntingtin aggregation. Scientists further found that treating Hungtintin rich neurons with TriC helped normalize the structure of the protein. After explaining the methods used to discover that Huntingtin aggregates spreads between cells, Dr. Jarosz shifted his focus to explain how he used novel African turquoise killifish as a model for HD.  Using that model, he identified that aged individuals have a strong enrichment in prion-like character among proteins known to form aggregates, meaning that aggregated proteins can spread similar to how prions do. If these findings are further confirmed, Dr. Jarosz stressed how this could be a new aspect of neurodegenerative disease behavior that we could potentially target.

Afterwards, Sharon Sha, MD, MS, Clinical Associate Professor of Neurology and Neurological Sciences at Stanford University and Co-Director of the Huntington’s Disease Center of Excellence and Ataxia Clinic, gave her talk on “Cognitive challenges in HD and ways to work around them.” Sha opened with an overview of symptoms commonly found in HD patients, which allowed her to introduce the main topic of her talk, cognitive symptoms. She deemed the cognitive impacts of HD “underrecognized,” and continued with explaining how these symptoms manifest in individuals, primarily by affecting their executive function, which could impact individuals years before motor impairments. Her research found that premanifest HD patients (patients in which symptoms have yet to arise) were more aware of presenting executive function problems than early stage HD. Sha proceeded to shift her focus to describing strategies that help treat cognitive problems, along with those that do not; she recommended using memory aids, decreasing multitasking, and being receptive to help. She continued by explaining that Donepezil, a drug commonly used to treat dementia in Alzheimer’s disease, does not work effectively to treat cognitive problems, along with the potential for another drug called Rivastigmine, and closed with addressed the prevalent insurance issues associated with clinical trials

The third talk was given by John Barry, MD and professor of psychiatry and behavioral sciences at Stanford Medical Center, on the neuropsychiatric challenges that HD patients face. He opened with explaining how unawareness is hard-wired, not solely deniel. Barry described the disabling psychiatric symptoms often seen in HD patients, such as apathy, denial, depression, irritability, and anger among others; he emphasized that the disease, rather than the individual themselves,  is the cause for these symptoms,.

After a short break, the morning resumed with a moving patient testimonial from Sheila A. She spoke about her own experience being diagnosed, and touched upon the guilt she felt at knowing it is possible that she passed HD down to her children, who were already born when it was discovered that HD is in her family. She explained the lack of resources available to her and her family living in Scotland at the time, along with her experience of her father being misdiagnosed. Sheila continued with her experiences in enrolling and participating in clinical trials that drove her to the US; despite not knowing what treatment group she belongs to, she is hopeful for the future of HD research and treatment, ending on the note that she finally felt “dignified in a really undignified disease”.

Following Sheila’s testimony was Kristina Cotter, PhD, who presented her dissertation research on “Positive attitudes and therapeutic misconception around clinical trials in the Huntington’s disease community.” Using a PACT-22 scale, which is a commonly used metric for clinical trial attitudes, her team developed a survey with two measures to assess clinical trial attitudes and understanding in the HD community. After distributing the survey via emails, flyers, and social media through HD-related organizations and evaluating 73 responses, Cotter and her team found that respondents viewed clinical trials positively and generally viewed trials as safe. She also explained that individuals with prior HD-related research experience were less likely to have negative expectations about trials than those without research experience, and that level of invasiveness was negatively correlated with willingness of an individual to participate. Interestingly, Cotter mentioned how she did not expect to find that individuals with HD were more likely than the other groups to experience therapeutic misconception; she concluded with recommending to use her findings to strengthen informed consent during HD clinical trial recruitment.

The last talk of the morning was a concise yet information-packed update on ongoing HD clinical trials by Brent Bluett, DO, clinical assistant professor in Neurology and the Neurological Sciences and Marcus Parrish, PhD of the Department of Chemical and Systems Biology. He touched briefly on a variety of ongoing drug-related clinical trials, shared contact information for audience members interested in such trials, and described how AMT-130 gene therapy has been found to lower huntingtin protein and improve HD symptoms  in animal models. Bluett continued with emphasizing the ability to use of biomarkers as indicators of the severity and/or presence of HD, and concluded that biomarkers could be clinical trial endpoints for the HD community.

The afternoon began with an educational overview of nutrition, given by, Veronica Santini, MD, MA, and co-director of the Huntington’s Disease and Ataxia Clinic. She explained the higher total energy required for those with HD due to higher movement. She continued to explain healthy and unhealthy recommendations for HD patients; specifically, she mentioned decreasing lactose intake, while increasing the “colors” on a  plate, particularly through vegetables. 

The afternoon continued with a panel discussion about “Support Challenges in Huntington’s Disease” with social workers from the local community.  Moderated by Dr. Sha and Dr. Santini, the panel consisted of Andrea Kahn, MS, CGC, Amee Jaiswal, LCSW, and Betsy Conlan, LCSW of Stanford Health care, among others. Each of these panelists introduced themselves gave attendees the opportunity to ask any questions they may have. They each provided expert answers for all questions from the audience members, which included those on along the topic of insurance protections, trust planning, pre-existing conditions under the Affordable Care Act, and long-term care. Panelists also recommended HD patients and families to enroll in a long term insurance plan prior to getting tested, mentioning the impact which positive results can have on the resources and coverage of an insurance plan.

The event concluded with a talk by Kristin Morris, PT, DPT, NCS, and physical therapist from the Stanford Neuroscience Health Center. She demonstrated examples of physical therapy style movements for those impacted by HD, and offered the opportunity for attendees to join in trying them out.

The first annual iteration of Stanford Patient Care and Research Symposium was a great success, bringing valuable information to and bringing together the HD community.