The Huntington Study Group (HSG) hosted more than 400 attendees from around the world that included expert clinicians, researchers, and coordinators of clinical studies at their annual meeting in late October. Rounding out this group were representatives from several drug companies, and most importantly individuals and families affected by HD. The highlights listed are just a few of the many presentations but are those that this author thought most important.

The favorite: My favorite was Erika Bjorklund's opening presentation on the final day of the meeting, when families affected by Huntington disease sit side by side with scientists and clinicians. She shared how her family has learned to "hack" or cope with HD. This young woman who is soon to enter medical residency training belongs to an remarkable family that has lived life to the fullest every day, even though -- and perhaps because -- her sister Melissa is affected by HD. This amazing family "hacks" life with HD by:

  • Accepting what can't be changed
  • Laughing
  • Finding inspiration in others
  • Using a relaxation technique of focusing on your own breath
  • Not wasting energy
  • Accepting strength where ever it is found
  • Staying optimistic

Important Very Soon: SD-809: Dr. Michael Hayden, a long-term premier researcher for HD and now chief scientific officer at TEVA Pharmaceuticals presented information about this drug awaiting FDA approval. Though it is based on tetrabenazine and decreased chorea involuntary movement severity in similar manner to the old drug, the new drug has three important differences.

  • It appears to benefit voluntary motor impairment too -- that in turn can improve motor tasks such as use of the hands, walking, and swallowing.
  • It does not have the depression or many other side effects of the old tetrabenazine drug.
  • It improves quality of life, which importantly shows that treating motor symptoms is important for quality of life in HD.

Though this author believes this will be a good drug for a broad range of individuals with HD, it should be remembered that it only partially helps with motor symptoms; it doesn't eliminate them. We thank the work of the many individuals and team efforts that are needed to get a drug for our HD community:

  • The former Auxpex Pharmaceuticals team for creating the drug
  • HSG administrators for central coordination of trials
  • The HSG clinical site investigators
  • The selfless participation of trial participants
  • And lastly TEVA Pharmaceuticals for taking this drug through the final steps of FDA drug approval. They also will be doing the work of educating medical providers and HD families about the benefits and proper use of this new drug.

TEVA Pharmaceuticals is also sponsoring two other ongoing clinical trials: PRIDE-HD and LEGATO-HD. Working on a total of 3 new drugs in various stages of development, TEVA has been responsible for a flurry of activity for HD; and is investing more money in clinical research efforts in HD than any other company or organization. It brings great hope to our community to have this and other drug companies, large and small working for HD.

Important for Now and the Future: Enroll-HD: An entire day was spent on teaching coordinators about how to correctly measure and record participant tests so that information from (now more than 7,000 participants) can in turn be used to learn more about HD. Another important part of Enroll-HD is to speed recruiting for clinical trials, which will mean faster completion of clinical trials. This author's favorite Enroll session was that presented by Dr. Francis Walker, and Dr. Mary Edmondson from HD Reach in North Carolina who showed that collaboration between Dr. Walker's subspecialty center and this community outreach organization brought more individuals to subspecialty care and to participation in Enroll-HD. The take home message here is that care goes hand in hand with clinical research participation.

Clinical trials updates: Analysis from the first 6 months of PRIDE-HD, the larger 3rd clinical trial testing pridopidine will begin in late December. Hopefully first results of this TEVA-supported trial will be made available early in 2016. Three other new drug trials are still recruiting: LEGATO, Amaryllis, and SIGNAL. Recruitment for these competing trials that are looking for fairly early disease participants has been relatively slow.

As in previous years, there was broader discussion in both public and private forums about the limited number of participants available for ongoing and future clinical trials. Suggestions for this difficult problem included either limiting the number of trials (but who decides?) that occur at the same time, or new ways to find more participants for concurrent trials (no clear answer).

Gene Lowering Therapies: The large barrier to this type of therapy is being able to get the drug into all areas of brain. There were several presentations on different methods being used to deliver gene therapy agents:

  • The frontrunner is the ISIS oligonucleotide, now in the groundbreaking first clinical trial testing safety of this drug that is delivered monthly into spinal fluid. In addition to safety, investigators will be looking for an effect on various potential biomarkers such as specialized brain scans, and levels of mutant protein in spinal fluid, and finding out if levels decrease with treatment.
  • Viral vector strategies: This type of gene lowering therapy has not reached the clinical trial stage for HD. It has the drawback of requiring injection of the active agent directly into brain. And though it has the advantage of requiring only one procedure, it has the disadvantage in that it can't be "turned off".
  • Nanoparticle nose-to-brain delivery: In work initiated by Dr. Juan Sanchez Ramos from University of Southern Florida, a very small nanoparticle similar that used for MRI imaging studies could potentially be used to deliver large molecules similar to the ISIS oligonucleotide to brain via breathing (or snorting) it in through the nose. Similarly, other large molecules like Brain Derived Neurotrophic Factor (BDNF), a chemical known to be protective in HD could be given this way too. The advantage of this type of delivery is that it appears to get to the entire brain, and that is in non-invasive (not needing to be given directly into spinal fluid or brain). This work is still in preclinical (genetic mouse study) stages, but has already undergone important work in normal monkeys.

Care and Outreach: Though not a priority at this meeting, a few hours were given to "care" and outreach for individuals with HD who don't have access to subspecialty care. In addition to the HD Reach model:

  • Katie Jackson gave a presentation of Help4HD efforts over the past years. This organization, founded by Melissa Billardi has grown dramatically in the last few years and works to improve care, help recruit for clinical trials, and to provide education about the many facets of HD.
  • The HSG Standards of Care Committee, led by Dr. Martha Nance and containing about 40 HSG clinicians, nurses, various therapy professionals, and social workers presented ongoing work on many fronts.
  • The Behavioral Working Group members from both HSG and their European collaborators from EHDN gave updates on development of guidelines for five different symptoms of HD including anxiety, agitation, apathy, psychosis, and sleep disorders. These can be potentially helpful in standardizing care across centers, and in informing clinicians who have had relatively little training in HD. This is vital because the larger larger fraction of individuals with HD do not get their care from subspecialty centers.

Authors comments: Both care and clinical research for HD suffer from the "too few" conundrum: too few individuals with HD getting subspecialty care, and too few participating in HSG site clinical trials. How can more clinical trial participation happen if so few individuals with HD get care at these centers? More and better care really is the only way.