Updates from HSG 2015

HSG 2015 Round-Up: Innovation


MC2_8525Julie 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.

Innovators Forum

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.

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HSG 2015 Round-Up: Community


Community: HSG’s Strategic Initiatives, Clinical Research, and HD Families

HSG 2015 was about community – the HSG member community, the sponsor community, and perhaps most importantly, the HD family community. Huntington Study Group has set a strategic initiative to be an invaluable research partner to these three communities. For Members, HSG will identify and develop the next generation of investigators and develop the existing human capital. For sponsors, HSG will expand the capabilities of the HSG research network and improve the efficiency of conducting clinical trials. For families, HSG will investigate new therapies for HD, expand the pipeline of therapies in development, and investigate, communicate, and educate about HD research and care.

Many local HD families had the opportunity to join the HSG 2015 attendee’s Saturday’s Clinical Research Symposium which kicked off with a lesson “Life Hacks: Dealing with Huntington’s Disease” by Erika Bjorklund Pope. On the list of life hacks:

  • Accept what cannot be changed
  • Laugh
  • Find inspiration in others
  • Focus on your own breath
  • Don’t waste your energy Accept strength regardless of the source Stay optimistic

Mesenchymal Stem Cells (MSCs) were presented as possible option for treatment of HD because of their neuroprotective factors. Kyle Fink’s presentation on UC Davis research featured MSCs keeping the degenerating cells in the brain alive longer to slow progression and modulating the microenvironment of the diseased brain. MSCs act as transplant cells capable of turning into neurons into the damaged area. The stem cells must be acceptable to the patients’ immune system and make functional connections with the host cells.

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HSG 2015 Round-Up: Education


Clinical research is a serious business. Elise Kayson and Lauren Seeberger’s facilitated workshop on The FDA is Coming, Now What? was a lively conversation on the highly regulated environment of clinical research. Panelists discussed the value of Good Clinical Practices (GCP) and how failing to comply with GCP requirements can result in corrective actions based on the severity of the violation. Documentation was a hot topic, with one comment from panelist Jody Corey-Bloom informing participants that their clinical documentation should “read like a novel.” Panelists advocated that preparing for an audit begins with study acceptance. Sites at high risk for audit included sites with high enrollment and sites that were close to a local FDA office.

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HSG Evening Blog: We Love Our Families

Today was all about our families!

Today was all about our families! (photo credit: Katie Jackson of Help4HD)

Today was Family Day.

For those of us who are clinicians and researchers in HD who happen to come from HD families, today was a special day. Today was the day that all of the science over the past few days of HSG 2015 comes together. Today was the joining of science and research with the families who are on the front lines of HD. These families are the pioneers. They are the warriors. They are the champions. They are the ingenious ones who have figured out how to “hack” Huntington’s. These families make it possible for scientific research to take place.  For some HSG participants, these families are why we are here.

These Huntington’s hackers have figured out how to navigate the complex, confusing, and challenging world of living and loving someone with HD. When conventional knowledge about caregiving failed, these Huntington’s hackers figured out a work around.  Erika Bjorkland Pope shared some of her Huntington’s life hacks with us today:

  • Accept what cannot be changed
  • Laugh
  • Find inspiration in others
  • Focus on your own breath
  • Don’t waste your energy
  • Accept strength regardless of the source
  • Stay optimistic

In the middle of talking about mesenchymal stem cells, brain-derived neutrophic factors, antisense oligonucelotides, small interfering-RNA, and adenoviruses, these Huntington’s hackers have figured out how to make it work.

Joining members of the scientific community with the HD community is like a great meeting of the minds. Complexities in science and complexities in caregiving came together for a sharing of best experiences and best practices. The scientific community had the chance to share their passion with the families helped by their research, The HD community had the chance to share their passion for knowledge. Dr. Andrew McGarry of Cooper University Hospital shared a quote in this morning’s research symposium:

Tell me and I forget, teach me and I may remember, involve me and I learn.

On all sides of the HD spectrum – researchers, clinicians, psychiatrists, social workers, geneticists, neuroscientists, drug developers, people with HD, children at-risk for HD, the gene positive and the gene negative, the caregivers, the loved ones – on all sides we came together on this family day to involve each other, to learn, and to share.  We shared our commitment to the care of HD. We shared promise. We shared hope.

A special thank you to the HDSA Central Florida Affiliate for its hard work organizing HD Family Day!

-Jared Husketh, contributor and director of clinical services for HD Reach

HSG Evening Blog: I’ve been here before, and I need to know what’s new

At HSG 2015, it's all about the connections made that will help us build our future.

At HSG 2015, it’s all about the connections made that will help us build our future.

In conversations today, we overheard the experience of one person who has been a family caregiver to a loved one with HD, and who is now working in the field of HD research. This person, who was attending the HSG for their first time and who had been participating in the session on Practical Pointers and Perspectives on Huntington’s for Local Practitioners, said “I remember all this. We just had no idea that is what it was.” We asked this person (who requested to remain anonymous) to tell us more about this sentiment. What did she mean when she said that she had been “here” before?

This person had been a caregiver for a parent with HD, and has a sibling with HD. When they were in the session and talking about neuropsychiatry, it brought back a series of experiences and a life history of Huntington’s. We got to thinking, just how many other people involved in the field of HD research, and treatment and care were here because they too came from an HD family? How many generations of HD families have contributed to the knowledge base of how to care for someone with HD? HD is a multigenerational disease. It leaves a genetic legacy

This afternoon we had the chance to hear about Huntingtin lowering therapies. David Corey from UT Southwestern Medical Center discussed gene silencing mechanisms. We know that HD drugs are needed, but Huntingtin, or HTT, the mutant protein that causes HD, presents some challenges. We can trace the problems of HD back to this mutant protein. David described HTT as an “undruggable target.” This leaves gene silencing, essentially changing the way a person’s genetic makeup expresses HTT in body, as a possible treatment. Turn off that potential genetic legacy, and you can turn off the disease.

It’s this genetic legacy that brings us to where we are in the world of HD research. As we look to fix the mutant HTT protein, we have to get in to some sophisticated therapies like gene silencing. The science in to gene silencing is complex and time taking. Getting gene silencing therapies to work in the body takes a combination of delivery and safety. Gene silencing therapies have to get the best coverage in the regions of the brain affected by HD, but also have to make sure there are no effects on other proteins. Get the therapeutic intervention in to the brain, and keep it focused just on the mutant HTT.

Even though the gene for HD was discovered in 1993, gene silencing is just the beginning. That genetic legacy, that for generations of people when they were diagnosed with HD meant the end of their life, may be just the beginning of new cures. That genetic legacy could be on its way to saving lives, and curing HD. Oh yeah, the families living with HD have been here before. But where they’ve gotten us? That’s what’s new.

-Jared Husketh, contributor and director of clinical services for HD Reach

HSG 2015 Evening Blog: One Touch Stockings, Social Workers, and Summer Camp

HSG 2015 has had a record number of attendees.

You’re probably wondering, what are one touch stockings and what do they have to do with social workers? Much less what do social workers have to do with summer camp?

The answer? Not much, but they were just three of the array of topics on the agenda today at HSG 2015. From telemedicine, youth outreach, social work, cognitive assessments, and clinical trials meetings, today was a busy day at HSG 2015. It’s this kind of variety of topics that makes the work of HSG and its participants important in the treatment and care of Huntington’s disease.

Julie Stout from Monash University discussed the Huntington’s disease Cognitive Assessment Battery (HD-CAB) today. The HD-CAB is a combination of cognitive assessments that have been developed as a potential standard of cognitive assessments for HD clinical trials. The goals for HD-CAB include sensitivity, reliability, and feasibility and tolerability. The HD-CAB beta study included 250 participants across 20 English-speaking sites. The beta study was run as though it was a clinical trial and had a focus on producing high quality cognitive assessment data. Some of the assessments in the battery include Symbol Digit Modalities, Emotion Recognition, Hopkins Verbal Learning, and yes, you guessed it, the One Touch Stockings of Cambridge assessment! To satisfy your curiosity, the One Touch Stockings of Cambridge assessment tests spatial planning and frontal lobe function, that helps reliably test executive function. In this assessment, subjects determine number of moves required to make the bottom display match the top display.

Later in the day, the Care and Education Working Group met to discuss the many issues about long term care, nursing care, and importance and value of social workers in clinical experiences for those living with HD. A subgroup within the Care and Education Working Group has been formed that has created a survey to assess the social work landscape. This survey will look at the number and availability of social workers, their funding sources, and the types of issues with which they assist HD patients. If you are an HD social worker, or if you know of an HD social worker, or are just interested in the survey, click here.

As the conversation showed, social workers play a critical role in the care of HD patients and their families. The complexity of care, and the coordination of a vast, sometimes sparse network of resources, demonstrates the value of having a social worker in the HD experience.

Before sessions concluded for the day, we got to hear about camp. The Huntington’s Disease Youth Organization (HDYO)) held its first ever HD Youth Camp this summer. Chandler Swope of HDYO presented during the Novel Outreach Methods session about how critical youth education and youth involvement are in the HD experience. HD-affected youth face a set of challenges that as we think about living with HD. These are the future generations of HD, and there are many opportunities for outreach to HD-affected youth.

-Jared Husketh, contributor and director of clinical services for HD Reach

HSG 2015 Evening Blog: Enroll-HD

enroll logoSo what exactly is Enroll-HD? Enroll-HD is a worldwide observational study for Huntington’s disease families. In an observational study, investigators assess health outcomes in groups of participants according to a research plan or protocol. But Enroll-HD is much more than just a joining of study participants and researchers. Enroll-HD has the opportunity to change how we look at HD, and show how the disease appears and changes over time. Enroll-HD will also eventually include almost 20,000 participants from North America, Europe, Latin America, New Zealand, and some countries in Asia. That makes Enroll-HD a huge study, the focus of which was today’s Enroll-HD Site Investigator Meeting at the first day of HSG 2015 in Tampa, FL.

What should some of the key takeaways be from today’s meeting? For starters, recruitment should still be a key part of the overall study “strategy.” The more participants in the study, the more data that can be collected on the disease itself. During the afternoon panel session with Joe Giuliano, Jody Corey-Bloom, Mark Guttman, Bernhard Landwehrmeyer, Martha Nance, and Francis Walker, the participant experience was a hot topic in an open forum discussion. Of interest was the discussion how some HD families were participating in the trials and their motivation for doing so. Some researchers reported that participants in Enroll-HD at their clinical sites like being in the study because it helped them feel as though they were contributing to a cure. Other researchers mentioned that for some people, the once-yearly study visit was a chance for a check up with their doctor to see how their disease was progressing. And for some participants, it was the only way they would get to see a Huntington’s disease specialist.

Why should this be important to the HD community? Let’s be honest, Huntington’s disease is a family affair. Did you hear the chorus of the popular 1971 song of the same name by Sly and the Family Stone? All jokes aside, the fact that HD is a family disease and that Enroll-HD is a study on HD families makes it an incredibly important and useful study that can help advance scientific knowledge on a very complex disease. Information about those who are at-risk of HD, and for those who are HD caregivers is also collected within Enroll-HD. Data collected within Enroll-HD can be shared across other HD-related studies and can help other researchers access volumes of data quickly and effectively.

How can you participate in Enroll-HD? The good news is, participation in the study is fairly easy. It requires a once yearly study visit at a study site, which you can find at the following website:


There are currently 7,696 participants in Enroll-HD. How can you help us get to 20,000 participants?

-Jared Husketh, contributor and director of clinical services for HD Reach