HOPESters Natty and Caitlin headed down to Southern California on August 22nd for Help4HD’s 2nd annual symposium in Riverside, California. The event was hosted at The Mission Inn and featured an array of guest speakers and presenters representing research groups, caregiver organizations, pharmaceutical companies, and advocacy groups. Keynote speakers included Dr. Donald Cleveland of UC San Diego, Dr. Leslie Thompson of UC Irvine, and representatives of the Inland Caregiver Resource Center and Riverside Community Health Foundation. This symposium was a full day of education, resource sharing, and community building for those who attended.
Sponsors of the event included Auspex Pharamceuticals, Teva CNS, Lundbeck Pharmaceuticals, Raptor Pharmaceuticals, and the Griffin Foundation. Attending as a representative of HOPES was a wonderful opportunity to meet some of the dedicated individuals and organizations working to raise awareness and support for Huntington’s disease and those that it affects. The HD community is truly astounding in the amount of compassion and dedication individuals have for each other and I am grateful to have played even a small role in Help4HD’s goal to create a world “where everyone knows what HD and JHD is; a world in which compassion is a normal response to the devastation that this horrific disease [causes].”
Below is a brief summary of each presentation.
Terry Tempkin, NP-C, MSN— University of California, Davis HDSA Center of Excellence
“Preparing for a stem-cell based treatment for HD: Pre-Cell and Beyond”
Terry Tempkin presented current updates on UC Davis’s progress in its HD stem cell treatment clinical trial. The proposed treatment uses mesenchymal stem cells engineered by Dr. Jan Nolta of UC Davis to overproduce BDNF as a therapeutic for HD. In HD, medium spinal neurons of the striatum die out, resulting in many of the symptoms seen in HD patients. Current research has identified lowered levels of BDNF as a key cause of this cell death as the mutant Huntingtin protein blocks production of BDNF at the RNA level and reduces axonal transport from cortical cells to the striatum. Mesenchymal stem cells have been developed as a viable candidate for delivery of BDNF into the striatum due to their reliable safety profile and ease to engineer. Mouse models of HD treated with implantation of these engineered mesenchymal stem cells have showed success in decreasing behavioral symptoms such as anxiety and reduced striatal atrophy. The group has completed the first phase of their project plan, “Pre-Cell”, and are now seeking FDA approval for the first in-human trial of gene therapy engineered mesenchymal stem cells implanted into the brains of patients with Huntington’s disease.
Dr. Don Cleveland — University of California, San Diego
“Therapeutic strategies in HD: developing a gene silencing therapy for neurodegenerative disease”
Dr. Cleveland presented on a potential treatment for HD that is currently in mouse models and was initially designed for Amyotrophic Lateral Sclerosis (ALS). The treatment uses antisense oligonuceltides (ASOs), which are chemically similar to DNA and mRNA and are able to base pair with the mutant huntingtin mRNA and signal the cell to degrade it, preventing the production of huntingtin protein. In partnership with Isis Pharmaceuticals, Dr. Cleveland’s work builds on this technology with a designer DNA infusion into the spinal cord targeted against the Huntingtin gene. Success in mouse models shows reduced Huntingtin expression for more than 3 months and partial disease reversal. Trials for safety in human patients have begun and consist of four monthly doses. Efficacy trials are expected to begin in 2017.
Heather Hare, Director of Communications and Outreach at Huntington Study Group (HSG)
Heather Hare discussed the role that the Huntington Study Group (HSG) is playing in current HD research. HSG is a network of investigators, scientists, and HD experts who work to find viable HD treatments, expand the global HSG network, and design and facilitate clinical trials. As of August, they are enrolling in Legato-HD and Signal. HSG is also working to raise clinical trial participation by partnering with sponsors and research sites to cover travel expenses and make sites more accessible. They have also created a Future Contact Database, which notifies subscribers when a new trial is open for enrollment. They hope to streamline the relationship between sponsors, trial participants, and research groups to improve the success and accessibility of clinical trials.
Sonia Slevinski: University of Iowa Department of Psychiatry, Napolis Lab
Kids HD + Kids JHD Studies
Sonia Slevenski attended as a research group representative from Iowa. Her group is working on two studies for kids affected by Huntington’s disease (HD) and Juvenile Huntington’s disease (JHD). The first is an ‘at-risk’ study, which follows children who are at-risk for HD in order to track their brain structure and function with MRI and computer analysis. They also test thinking, memory, movement, balance, self-awareness using quizzes, brain tests, and behavior questionnaires. The intent is to identify how early changes begin to occur for those who eventually develop HD. Researchers also use genetic analysis to aid in this research and match early changes with gene status. However, due to the ethical implications of research studies with minors, all information is deidentified out of respect for allowing those in the study to decide whether they want to know their gene status once they become of legal age. Preliminary results have found some evidence for brain changes happening as far as 30 years from expected onset, including reduced putamen and increased thalamus volumes.
The other study is for those affected by JHD. The research is attempting to identify the brain changes that occur in JHD in contrast to adult-onset as well as what potential biomarkers can be identified. The JHD protocol is similar to the at-risk protocol, and researchers are hopeful that this study will result in a better understanding of JHD in order to make progress on potential treatments. This is one of the first studies to look at exclusively JHD and, in combination with the at-risk trial, is trying to understand how HTT plays a role in the developing brain.
Carmen Estrada, Executive Director of Inland Caregiver Resource Center
Note: Carmen was not able to attend and another representative from the organization spoke in her stead.
The final presentation was from a representative of the Inland Caregiver Resource Center. HD and JHD affects not just those with the diagnosis but also those who care for them. These caregivers are typically under a lot of stress, trying to balance work and caring for their loved one. Caregivers face many challenges including a lack of preparation, lack of support, lack of self-care, and loss of identity. The ICRC works to provide services for caregivers not limited to HD, such as information and referrals to other agencies, family consultation, vouchered services like respite care and supplemental services, and short-term counseling. They also run support groups, educational conferences, and support and bereavement programs. A particular concern of the ICRC is a lack of self-care that caregivers often suffer from. Of the population that they serve, about 2/3 have identified having symptoms of depression. In order to alleviate some of this stress, ICRC helps caregivers develop a care plan, both for the patient and caregiver, provides short term counseling, respite care, and recommends a variety of strategies and services to help caregivers. Caregivers do not lack in resilience and love, but providing support for them is critical to prevent burnout.