We need you!

HSG currently has two surveys in which your input is invaluable. We know there are a lot of surveys going around and you have limited time, so we tried hard to make these as brief as possible.

  1. HD Care Improvement Project: Funded by the Griffin Foundation, the project aims to improve care and access to care but needs your input to do so. If you are someone with HD, or a family member, friend or caregiver of a person living with HD, please take a moment to complete the brief survey below. We would like to understand YOUR experience – YOUR journey – and YOUR knowledge to help us improve access to quality care for HD patients and families in the United States. Your feedback is invited and welcomed! (The survey represents a collaboration among the Griffin Foundation, the Huntington Study Group (HSG) and the Huntington’s Disease Society of America (HDSA) in partnership with a broad group of organizations.) Click here to take the brief survey.
  2. HD-Health Index: Funded by NJ Cure, this University of Rochester project aims to create a better quality of life outcome measure for research trials. If you have firsthand experience with the disease, either as someone with HD or as a caretaker, and are interested in helping research efforts, we want your opinion. The University of Rochester is administering a half-hour online survey that will ask you to rate the impact various common symptoms of the disease have on your life. $30 compensation for participation. For more information and to view the consent form, click here.

We know you’re bombarded with surveys, but we hope you’ll consider doing both of these.

Seeking Survey Participants

If you are someone with HD, or a family member, friend or caregiver of a person living with HD, please take a moment to complete this brief survey. The survey represents a collaboration between the Griffin Foundation, the Huntington Study Group (HSG) and the Huntington’s Disease Society of America (HDSA) in partnership with a broad group of organizations. We would like to understand YOUR experience – YOUR journey – and YOUR knowledge to help us improve access to quality care for HD patients and families in the United States. Your feedback is invited and welcomed!

Click here to complete the survey.

World Experts in HD to Convene in Nashville

HSG 2016 with dateTraining opportunities, family education available at HSG 2016

The Huntington Study Group (HSG), an international, non-profit network of more than 400 researchers and clinicians dedicated to seeking treatments that make a difference for Huntington disease (HD), is hosting its annual forum, HSG 2016: Discovering Our Future, Nov. 2-5 in Nashville for training and education and for presentation of new research findings and treatments to the worldwide community. The event, which is expected to draw over 300 attendees, is being held at the Gaylord Opryland Resort and Conference Center.

Among the highlights of the event are:

  • UHDRS Symposium, which focuses on a proposed modified Unified Huntington Disease Rating Scale and its use in clinical trials as an efficacy endpoint.
  • HD Innovators Forum, which includes presentations from leading HD industry partners working on developing new HD treatments.
  • CME4HD, a day-long, in-person continuing medical education course for healthcare providers hosted by HSG and Vanderbilt University School of Medicine. The course will teach providers how to care for and manage individuals with HD. Participants will have the opportunity to earn 8.75 AMA PRA Category 1 CME CreditsTM.
  • Keynote speech by Dr. Bob Beall, former CEO of the Cystic Fibrosis Foundation, who will talk about how CFF developed its care and research models in a non-profit setting through partnering with families, care providers, researchers, and biotech.
  • HD Research Symposium, highly acclaimed research presentations drawing worldwide recognition.
  • HD Family Education Day, designed for the local HD community and family members. The day starts with hearing about the latest in HD research, followed by interactive workshops and breakout sessions.

Registration costs vary on participation, but HD Family Education Day is free for HD community members. Please visit for more information and to register.

For more information:
+1 800-487-7671 or

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Registration for HSG 2016 is now open

HSG 2016 with dateRegistration for HSG 2016: Discovering Our Future is now open. The annual event will take place Nov. 3 to 5 with a special symposium about using a modified UHDRS for clinical trials on Nov. 2.

Please click here for information about registration, including the funded list. Registration is working a little bit differently this year, so it’s important to read the instructions carefully.

Click here for more information about the event, including agendas for the meeting, CME4HD, and the UHDRS Symposium.

We’re looking forward to seeing you at HSG 2016 in Nashville! It’s been a big year for HD research and we have a lot of catching up to do.

JAMA publishes results of First-HD trial

FirstHD_Horizontal sm screen resIn case you missed the news last month, the Journal of the American Medical Association (JAMA) published the results from First-HD, an HSG trial run by co-PIs Dr. Samuel Frank and Dr. Claudia Testa at 34 HSG sites around the country.

The JAMA abstract is available here (the paper is available with a subscription). HSG’s announcement is available here.

Frank spoke with several medical reporters about the findings, including at Medscape, which published this piece about the findings.

Thank you to Frank, Testa, Elise Kayson, Jody Goldstein and Jacqueline Whaley and the rest of team at CTCC, our site investigators and coordinators, and especially to the trial participants and their caregivers.

Vaccinex Receives FDA Fast Track Designation for VX15 Antibody for the Treatment of Huntington’s Disease

vaccinex_logoVaccinex, Inc. today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation for VX15 as a potential treatment for Huntington’s disease (HD).  VX15 is the Company’s novel clinical stage monoclonal antibody that blocks the activity of semaphorin 4D (SEMA4D), a molecule that is believed to promote chronic inflammatory responses in the brain.

Read the company’s press release.

What is HSG?

For HD Awareness Month, the Huntington Study Group is launching an education campaign, aimed at helping health care providers who are less experienced with Huntington disease (HD) to learn more about how to care for their patients and families with HD. HSG wants to share insights of our experienced HSG members with less experienced providers to help them better understand issues faced by HD patients and families. So, HSG is launching a new education section of our website with tools to help new HD providers.


  • There, you will find:
    • Videos addressing common questions providers new to caring for families with HD may have
    • A page of useful resources for providers, including care guides, referral resources, and links to many advocacy organizations
    • Annual Event education: HSG 2015 educational and research presentations
    • The underlying message is that HD is a treatable disease
    • A video explaining what HSG is
Please share this new section of our website with the providers who call you for help and let us know if you have more ideas for resources we can add. If you are on social media, we encourage you to share all of this information with your networks to ensure the word gets out there. If you’re a hashtag user, we’ll be using both #hdisatreatabledisease and #letstalkabouthd (HDSA’s hashtag) throughout May, HD Awareness Month.

HSG adds board member Joni Steinman

Joni SteinmanAs our newest board member, Joni M. Steinman brings 35 years of health care management consulting experience to advancing the goals of the HSG. As the co-founder and managing principal of AUSMS Healthcare Consultants, Steinman served the U.S. health care industry, advising policy makers, administrators and practitioners on strategic, facility, organizational and business planning and development matters, including performance improvement initiatives for hospitals, surgery providers and practitioners, hospice and home care agencies, medical groups and governmental agencies, regarding the development of many facets of acute, sub-acute, ambulatory, home and long-term care.  In 2012, after completing several consulting engagements in Toronto, Canada, Steinman affiliated with Strategic Interests, LLC, a Rochester, NY-based firm dedicated to guiding health care organizations nationwide to grow through improved performance and the innovative use of information technology and business intelligence.

With educational achievements in both political and medical sociology (Brandeis University, cum laude) and social work administration (San Diego State University), Steinman has devoted her career, as AUSMS’ motto indicates, to guiding clients and colleagues alike ‘From Ideas to Results’ in health care and human services. And as the sister of a Nobel Laureate in Physiology and Medicine, Steinman grew up as a close and ever-fascinated observer to the critical impact that the pursuit of and commitment to scientific research can have on some of our most vexing medical challenges.

Steinman has always given back to her communities through voluntarism and philanthropy. Examples of her commitment including serving as President of, respectively, the Health Systems Agency of San Diego and Imperial Counties, the Jewish National Fund’s San Diego Region and San Diego Women in Health Administration.  Today, in addition to her new commitment to HSG, she is a member of the Rochester Women’s Giving Circle, a community of philanthropic women who combine their financial strength to support area women and girls on their journey to economic self-sufficiency.


Sleep disturbances are among the earliest non-motor symptoms in HD

By: Alpar S. Lazar, PhD and Roger A. Barker, MRCP, PhD, FMedSci

We spend approximately one-third of our lives asleep. Sleep quality is central to brain health,1,2 and problems with sleep are commonly seen in most neurodegenerative disorders,3-5 including HD.3,6 Several studies convincingly show abnormal sleep quality in manifest HD patients,7-12 and indicate that this happens early in the course of the disease.13 Exactly what the first sleep problems are in HD, and whether they emerge in the premanifest stage, when other non-motor symptoms including cognitive abnormalities are already present, is unknown. Patients with HD have metabolic alterations characterized by weight loss and increased energy expenditure,14,15 which may also relate to sleep problems, given that both are controlled by similar CNS structures, such as the hypothalamus.

We therefore aimed to investigate whether sleep problems are found in premanifest patients, and if so, to characterize these problems, and evaluate whether they are associated with cognitive and/or metabolic deficits. We designed a comprehensive cognitive, sleep, and metabolic study, performed both in the field and in the laboratory, with 38 individuals with premanifest HD and 36 age- and sex-matched controls. This consisted of two weeks of actigraphy at home, allowing assessment of habitual rest-activity rhythmicity using a small, wrist-worn movement sensor; two nights of sleep study (polysomnography) and multiple sleep latency tests in the laboratory, allowing objective assessment of sleep quality, brain electric activity (EEG) and daytime sleepiness; and a body composition assessment using dual energy X-ray absorptiometry scanning. Energy expenditure was measured over 10 days at home using doubly labelled water (DLW), and for 36 hours in the laboratory by indirect calorimetry (IC). DLW is water containing a stable isotope which is administered to the patients and its elimination tracked by daily urine samples to enable estimation of metabolic rate. IC determines metabolic rate based on oxygen consumption and carbon dioxide production during rest and exercise performed in an isolated respiratory chamber. We also performed detailed cognitive and clinical assessments.

Figure: Representative sleep profiles of a premanifest participant and an age- and sex-matched control showing more awakenings and time spent awake during the sleep period with less REM sleep, and an overall more fragmented sleep profile in the premanifest participant.

Figure: Representative sleep profiles of a premanifest participant and an age- and sex-matched control showing more awakenings and time spent awake during the sleep period with less REM sleep, and an overall more fragmented sleep profile in the premanifest participant.

We found that premanifest HD gene carriers had more disrupted sleep, characterized by a fragmented sleep profile, meaning more time spent awake during the night (see Figure); increased objective daytime sleepiness; and alterations in sleep-dependent brain activity as measured by EEG, with a clear association with increasing disease burden. In addition, the development of these abnormalities coincided with the development of cognitive, affective, and subtle motor deficits, and preceded any metabolic alterations.16 In spite of the presence of these objectively measured sleep deficits, premanifest HD gene carriers did not complain of poorer sleep quality compared to controls, which fits with an earlier study we had done in a small group of early manifest patients who also denied any sleep problems, despite objective measures to the contrary.13 This suggests that subjective measures of sleep quality are not necessarily helpful for research or clinical use in HD.

These new sleep results in patients are in line with reports from transgenic rodent models of HD that report gradually worsening sleep quality from a very early stage, and together raise many interesting questions. What causes these early sleep disturbances? What is their significance in the early cognitive deficits and the onset and progression of the disease? These questions remain to be investigated. Finally, it remains to be established whether therapeutic sleep quality improvement could help premanifest and manifest patients with HD to reduce the cognitive symptoms or even slow down the disease process, as suggested by earlier studies performed in transgenic animal models of HD.17,18

This study was supported by the CHDI Foundation (CHDI-RG50786).

1Scullin MK, Bliwise DL. Sleep, cognition, and normal aging: integrating a half century of multidisciplinary research. Perspect Psychol Psy. 2015;10(1):97-137.

2Yaffe K, Falvey CM, Hoang T. Connections between sleep and cognition in older adults. Lancet Neurol. 2014;13(10):1017-1028.

3Videnovic A, Lazar AS, Barker RA, Overeem S. ‘The clocks that time us’-circadian rhythms in neurodegenerative disorders. Nat Rev Neurol. 2014;10(12):683-693.

4Ju YE, Lucey BP, Holtzman DM. Sleep and Alzheimer disease pathology–a bidirectional relationship. Nat Rev Neurol. 2014;10(2):115-119.

5Anderson KN, Bradley AJ. Sleep disturbance in mental health problems and neurodegenerative disease. Nat Sci Sleep. 2013;5:61-75.

6Morton AJ. Circadian and sleep disorder in Huntington’s disease. Exp Neurol. 2013;243:34-44.

7Arnulf I, Nielsen J, Lohmann E, et al. Rapid eye movement sleep disturbances in Huntington disease. Arch Neurol. 2008;65(4):482-488.

8Wiegand M, Möller A, Lauer C, et al. Nocturnal sleep in Huntington’s disease. J Neurol. 1991;238(4):203-208.

9Piano C, Losurdo A, Della Marca G, et al. Polysomnographic Findings and Clinical Correlates in Huntington Disease. A Cross-sectional Cohort Study. Sleep. 2015;38(9):1489-95.

10Hansotia P, Wall R, Berendes J. Sleep disturbances and severity of Huntington’s disease. Neurol. 1985;35(11):1672-1674.

11Neutel D, Tchikviladze M, Charles P, et al. Nocturnal agitation in Huntington disease is caused by arousal-related abnormal movements rather than by rapid eye movement sleep behavior disorder. Sleep Med. 2015;16(6):754-759.

12Morton AJ, Wood NI, Hastings MH, Hurelbrink C, Barker RA, Maywood ES. Disintegration of the sleep-wake cycle and circadian timing in Huntington’s disease. J Neurosci. 2005;25(1):157-163.

13Goodman AO, Rogers L, Pilsworth S, et al. Asymptomatic sleep abnormalities are a common early feature in patients with Huntington’s disease. Curr Neurol Neurosci. 2011;11(2):211-217.

14Aziz NA, Pijl H, Frolich M, et al. Systemic energy homeostasis in Huntington’s disease patients. J Neurol Neurosur PS. 2010;81(11):1233-1237.

15Goodman AO, Murgatroyd PR, Medina-Gomez G, et al. The metabolic profile of early Huntington’s disease–a combined human and transgenic mouse study. Exp Neurol. 2008;210(2):691-698.

16Lazar AS, Panin F, Goodman AO, et al. Sleep deficits but no metabolic deficits in premanifest Huntington’s disease. Ann Neurol. 2015;78(4):630-648.

17Pallier PN, Maywood ES, Zheng Z, et al. Pharmacological imposition of sleep slows cognitive decline and reverses dysregulation of circadian gene expression in a transgenic mouse model of Huntington’s disease. J Neurosci. 2007;27(29):7869-7878.

18Pallier PN, Morton AJ. Management of sleep/wake cycles improves cognitive function in a transgenic mouse model of Huntington’s disease. Brain Res. 2009;1279:90-98.

HSG 2016: Call for Abstracts

HSG 016HSG 2016 in Nashville, TN, Nov. 3 to 5, will host multiple poster sessions and platform presentations, to be chosen from submitted abstracts, throughout the conference. Authors are asked to present their posters during these sessions and interact with attendees. A limited number of abstracts will be selected for platform presentations.

Submit an Abstract by Sept. 1

Eligible abstracts may include data that have been presented previously, but please ensure they will still be of public, as well as scientific, interest. Authors will be asked to disclose relationships with funding sources and manufacturers of commercial products discussed in the presentation. Abstracts will be published in Neurotherapeutics, the journal of the American Society for Experimental NeuroTherapeutics (ASENT), and the presenting author of accepted abstracts will be provided two nights of lodging at the Gaylord Opryland during HSG 2016 in Nashville.

Learn more and submit an abstract…

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