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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…

Opportunity for fellowship in Regulatory Science

callforabstractsblogGeorgetown University’s Program for Regulatory Science & Medicine (PRSM) and the Pharmaceutical Research and Manufacturers of America (PhRMA) has announced an opportunity for a Fellowship in Regulatory Science, which provides fellows with one to two years of specialized training with access to expert faculty and scientists from Georgetown University, PhRMA, the pharmaceutical industry, and the U.S. Food and Drug Administration (FDA).

Fellows will be awarded up to two years of salary support and research stipends, beginning with a one-year term, with possibilities for renewal after successful completion of the first year. This postgraduate fellowship will help develop researchers and scholars to reach their fullest potential in advancing innovative research to benefit public health.

Interested? Don’t wait. The letter of intent is due Feb. 12.

  • February 12, 2016: Letters of intent due
  • February 29, 2016: Full applications due
  • April/May 2016: Candidate Interviews
  • July 1, 2016: Fellowship starts

Learn more here.

FDA wants to hear from you!

FDAThere’s still time and opportunity to tell the FDA your thoughts on drug development for Huntington disease!

The FDA focused on hearing from individuals with HD, family members and caregivers at its Sept. 22 Patient Focused Drug Development hearing. But from now until Nov. 23, the FDA is taking input from the entire HD community, including care providers and researchers. Specifically the FDA wants to know: At all stages of HD/JHD, if a treatment could be developed, what symptom would you most like to stop or what ability would you like to regain – what is most important to you?

The other topics about which the FDA is gathering input include the symptoms that affect daily life, how the disease affects social interactions and relationships, and how treatments have changed over time. To see the full list of topics, click here.

This is your chance to advocate on behalf of HD families and underscore with our country’s drug development process how imperative it is to address the many symptoms of HD. Please take advantage of this opportunity.

To submit your comments, click here and then click on the green “Submit a Formal Comment” button on the right side of the screen.

 

Why participating in clinical trials is important to Katie

Katie MoserParticipating in Huntington’s disease research is important to Katie Moser. Katie, 34, is gene positive and showing no symptoms of HD. She has a full-time job, friends, and a house, but she still chooses to take the time to participate in the trials and studies she can. She’s even driven five hours from her home in Elizabethtown, PA, to Rochester, NY, to participate.

“It’s important,” Katie said. “We need research in order to advance science. Ultimately, the goal is to find the cure or treatments or something to help in the long run. And if I weren’t going to do it, I can’t expect other people to do it. And it’s what I can do. I’m not a scientist; I’m not a doctor, but I can go do my part while I’m physically able to do it.”

Katie’s maternal grandfather died from complications of HD. She is an occupational therapist who chose to work with patients in an inpatient Huntington’s disease unit, where she saw the impact of the disease. Still, she chose to find out whether she carried the mutation, although most at-risk young people don’t. She raises money for research and participates in trials, helping to find treatments and, someday, a cure.

Katie’s advocacy and outgoing personality caught the attention of Lundbeck, a pharmaceutical company that specializes in finding therapies for central nervous system disorders. Katie is now a manager of Advocacy and Patient Support in Lundbeck’s Movement Disorder Marketing department. She travels the country, connecting with HD families at conferences, walks and other events. Her background in OT and her family experience helps her connect in a way no one else can.

Katie knows each individual’s situation is unique and doesn’t pressure anyone into participating, especially when trials need gene-positive participants. Not everyone wants to know their status.

“I tell people where to find information on trials. I direct people to the sites like HD Buzz to get information about research that will be easier for them to understand. And then I share my experience participating in trials,” Katie said.

Katie has participated in at least four multi-center trials and studies, as well as several smaller studies that only required one visit. She has traveled to New York City, Connecticut and Rochester to participate. She’s currently in ENROLL-HD, which is an observational study and one that doesn’t require participants to know their gene status.

“It’s a little exhausting,” Katie admitted. But even when one of the trials she participated in didn’t produce positive results (coenzyme Q10), at least it told researchers something.

“You don’t want to be wasting time and money. It’s important to find out what’s going on.”

To find out about HSG trials as soon as they launch, sign up for our future contact database. The Huntington’s Disease Society of America’s HD Trial Finder is a great resource for finding all currently enrolling HD trials, as well as clinicaltrials.gov.

To learn more about Katie’s experience learning her gene status, read the 2007 New York Times feature article, “The DNA Age: Facing Life with a Lethal Gene,” by Amy Harmon.

Continuing education opportunity in Tampa, FL

HSG 2015 AG StD_Page_1Every year, HSG moves its annual event to another part of the country, partly to make it accessible to a new group of HD families, but also to bring training to a new group of local clinical professionals. Clinicians specializing in neurology, movement disorders, mental health, genetics, and palliative care, as well as primary care providers, are likely at some time to see HD patients and families who need their guidance through the complex and progressive course of the disease, and not all of them have had the good fortune to have had specialized HD training.

Local practitioners can learn the ABCs of HD with our experts and gain the knowledge they need to care for this community at HSG 2015’s “Practical Pointers and Perspectives on Huntington Disease for Local Practitioners” from 8:30 a.m. to 5 p.m. Friday, Oct. 23, at the Grand Hyatt Tampa Bay, Tampa, FL. The program is being jointly provided by the Huntington Study Group and USF Health. Continuing Education credits will be offered ($100 registration fee covers credits).

Attendees will leave with:
• an up-to-date understanding of the diagnosis, staging, and typical symptoms of HD
• skills for expert approaches to treatment
• understand the role of allied health in the management of HD
• awareness of available medical, educational, and support resources

Register here!

More details can be found here.

Please pass this opportunity on to others so we can expand the number of practitioners who can provide high quality care to people with HD.

Life Interrupted

life interruptedThis year has brought several films and books about Huntington disease. Lisa Genova’s Inside the O’Briens, a novel about a family that discovers HD runs through it, published in April, and Lucy Walker’s The Lion’s Mouth Opens, a nonfiction short film following a young woman finding out whether she carries the gene that causes HD, aired on HBO in June, and WeHaveAFace.org launched its documentary project detailing the impact of HD, The Huntington Disease Project: Removing the Mask, in June, as well.

Now, our partners at Help4HD International, Inc., have published Life Interrupted, the stories of 12 people with HD and their caregivers. The stories detail the impact of living with HD on those with the disease and on everyone else around them.

Here is the book description:

Living the unimaginable, twelve Huntington’s disease patients and caregivers share true stories of struggle, devastation, and life-shattering events as they travel the journey that is HD. Along the way, you’ll meet ordinary people who develop extraordinary strength, courage, and perseverance as they try to counterbalance the chaos of lives falling apart as HD shows up like an out-of-control wrecking ball. One woman struggles for years to find her biological family, then discovers more than she expected. Agonizing parents watch helplessly as their children endure years of pain, lose every bit of their quality of life, and die far too soon, some from the juvenile form of HD. Couples fall in love, marry, and start their families just in time for this horrific disease to step in and rip everything away, eventually taking their soulmates’ lives and leaving them with the knowledge that their children, too, may face the same terrible fate. Witness the strength of these families as they rise to the challenge and advocate to be the last generation ever to live with the horrors of Huntington’s disease, a genetic neurodegenerative disease that has often been called the worst disease known to mankind.

To learn more about the book, click here.

What HSG Means to Jenna

What does HSG mean to you?

Being a member of such a focused, bright, and motivated group,  is very inspiring and energizes me as we are all aiming to achieve great goals of finding better therapies for HD patients and families. I feel honored to be a part of the HSG and consider us all a big family!

What’s the most meaningful aspect of working with HD patients?

The most meaningful aspect of my job is the relationships I am able to develop with the patients and families. While HD can be challenging, I feel these patients and families really entrust a great deal of their personal lives with us as their providers, and I’m privileged to be involved in their care. I am also able to learn a tremendous amount by listening to both patients and families, and sometimes that is really what they want and need more than anything. As I reflect on my work with HD, one of my favorite quotes by William James comes to mind-“Act as if what you do makes a difference. It does.

Jenna Smith, RN, BSN

Research & Clinic Coordinator
UAB | The University of Alabama at Birmingham
Birmingham, AL

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