One World, One HD Community - Spring 2011
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Huntingto n ’s D i s e a s e S o c i e t y o f A m e r i c a
Spring 2011
Huntington ’s D i s e a s e S o c i e t y o f A m e r i c a
One World,
One HD Community
INSIDE:
PREDICT-HD Study
Living Positively At-Risk for HD
Augmented Communication Devices
From the Desks of
Donald L. Barr, HDSA Chairman of the Board and
Louise Vetter, HDSA Chief Executive Officer
Dear Friends:
W
elcome to a new issue of room visits by Dr. Steve Hersch national website. Take a few minutes
The Marker magazine! We from the New England HDSA Center to see all that we offer and book your
are very excited about the of Excellence. hotel room today!
positive progress HD research is taking
For those living at-risk, Dr. Jang-Ho Cha Finally, I’d like to draw your attention
both at the basic science level and in
offers advice on how to live positively to the many new programs and
the many clinical and observational trial
with HD while Dr. Kim Quaid from services that HDSA has developed and
opportunities offered to our families.
the HDSA Center of Excellence at launched over the past year thanks
In this issue we feature an update Indiana University writes about decision to donors like you. Your dollars have
on the scientific conference hosted making in reproductive options. helped to support many of these
by CHDI in February that brought initiatives. If you are not familiar with
For people with HD, Katie Moser takes
together investigators from around the our Caregiver’s Corner series, our new
you through how she will be adapting
world for three days of collaboration, Lotsa Helping Hands care coordination
her house for HD. And of course, this
thought-provoking discussion and new portal, our HDSA Clinical Trials
issue also contains information about
research trends to consider. Diplomat program or our new
the 26th Annual HDSA Convention.
publications including our support
We are also pleased to bring you up to If you have not been to an HDSA
group newsletter, We Are HDSA, take
date on two studies being conducted Convention, now is the time! We have
a moment to read about each and then
at the University of Iowa – KIDS-HD so many special convention activities
catch up by visiting www.HDSA.org.
and PREDICT-HD. Each article contains planned in addition to an impressive
information on who to contact if you array of workshops and plenary sessions. We hope that you find this issue
would like to be considered for either As a teaser, this year we are offering informative and helpful. As always,
study. Or if you are attending the HDSA an “Ask the Expert” opportunity in we appreciate your feedback and
annual convention in Bloomington the Exhibit Hall – rotating health encourage you to send your thoughts
MN this year, both PREDICT and professionals who will be on hand each and comments. Email our editor,
KIDS-HD will be in the Exhibit Hall afternoon to answer your questions Deb Lovecky, at dlovecky@hdsa.org.
ready to answer your questions! about HD. And of course there is the
In closing, our volunteers and donors
always popular Focus on the Family
For our caregivers, this issue offers are our lifeblood. We could not do the
Care Forum that promotes “Healthy
information about respite care and work we do without your help. Please
Eating for the HD Family” as well as our
how to go about finding it in your consider making a donation to HDSA
Research Forum on Saturday morning.
community, new caregiver services today so we can continue to serve the
An up to the minute convention
through the Medicare website and an HD community through education,
program is posted on the HDSA
article about navigating emergency outreach and awareness.
Spring 2011
TABLE OF CONTENTS
Huntingto n’s Disea se So ciety o f America
Hu ntin gton’s Disease Society of Am er ica
Hu ntin gton’s Disease Society of Am er ica
Hu ntin gton’s Disease Society of Am er ica
HDSA Research . . . . . . . . . . . . . . . . . . . . . . . 1-5 Advocacy . . . . . . . . . . . . . . . . . . . . . .20-21, 23-24
Living With HD . . . . . . . . . . . . . . . . . . . . . . . 6-13 HD Community . . . . . . . . . . . . . . . . . . . . . 18-19
Caregivers Link . . . . . . . . . . . . . . . . . . . . . . 14-17 Ways to Give . . . . . . . . . . . . . . . . . . . . . . .19, 22
research
HDSA Research
Update on the Pipeline
for Drug Discovery
early experiments, spoke about new work
that is underway to determine how much
huntingtin is necessary, or conversely,
how far can you lower huntingtin without
affecting normal biological functions.
This is of critical importance, as in early
attempts at gene silencing, it has proved
difficult to lower the mutant huntingtin
without lowering the wild type (normal)
huntingtin as well.
Clearly, huntingtin has
a role to play in early
E
very year, CHDI invites leading helped educate, and how tireless he is in
HD researchers, as well as others his quest to motivate and assist everyone development and
investigating related diseases, working in labs around the world to find
normal cell health.
to view presentations on major HD the therapies we all desire.
initiatives, share ideas and initiate There are two promising approaches
From the opening scientific session of
collaborations that will move the quest to this task. One uses Antisense
the conference, chaired by Neil Aronin of
for treatments and a cure closer to oligonucleotides (ASOs) and the other
the University of Massachusetts School
reality. This February’s conference uses RNA Interference (RNAi). Both
of Medicine and Seung Kwak of CHDI,
brought together investigators from methods will involve a direct infusion
it was clear that CHDI’s primary effort
over twenty countries. into the central nervous system. ASOs
continues to be directed at reducing
are currently in a Phase II Clinical Trial
Traditionally the opening keynote mutant huntingtin, the cause of
in ALS, so the safety and tolerability of
address is made by a person directly Huntington’s Disease. This was
that method has passed the initial Phase I
affected by Huntington’s, and this year confirmed when, in response to a
screening, a positive sign for their use in
Ken Serbin, an active member of the question, Robert Pacfici, CHDI’s Chief
HD as well.
San Diego Chapter of HDSA, moved Scientific Officer, commented that 50%
the audience with his story of growing of CHDI’s research investments this year Karen Chen of the Spinal Muscular
up in an HD family, and what he faces would be toward “gene silencing.” Atrophy Foundation (SMA) talked about
as a person who has tested positive for using these approaches in SMA, a
Of course, this is no simple task. Clearly,
the mutant gene. Many members of the disease that is also caused by a single
huntingtin has a role to play in early
HD world already knew Ken as Gene mutated gene. Presentations on other
development and normal cell health.
Veritas, a pseudonym he has used to diseases is always a valuable part of
This was demonstrated twenty years ago,
maintain anonymity for many years. This the CHDI conference, as it broadens
through experiments in which mice were
was Ken/Gene’s coming out address. the understanding of HD scientists, and
bred with no huntingtin gene — and
While he will continue to write as Gene often leads to new collaborations, or the
they died before birth. Scott Zeitlin of
Veritas, he also wants everyone to know ability to identify findings that can be of
the University of Virginia School of
Ken Serbin, and it was apparent from his
Medicine, who was involved in those —continued on page 2.
presentation, how many people he has
Huntington’s Disease Society of America
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HDSA Research
The last speaker of the day was Nicholas
Waters of Neurosearch who presented
new data on the effectiveness of ACR-16
(Huntexil). This information provides
a platform for further clinical trials
of ACR-16, which will determine if it
will be approved by the Food and
Drug Administration (FDA) or
European Medicines Agency (EMA)
regulatory agencies.
Day Two began with a focus on
Bioenergetics, chaired by Larry Park of
CHDI and Timothy Greenamyre of the
University of Pittsburgh. Bioenergetics
is how food nutrients are utilized to
produce energy that fuels all body
benefit to HD therapeutic development The second session examined functions. This is an area that has been
(articles on ASOs and RNAi are posted Neuronal Communication, or how brain under scrutiny for many years, as to
on the HDSA website, www.hdsa.org). cells interact chemically, a process that is whether it is mitochondrial dysfunction
altered in HD. George Yohrling of CHDI that produces the symptoms of HD, or
Andreas Weiss of Novartis announced
and Michael Levin of UCLA chaired the whether they are a byproduct of the
a development that will help determine
session. Neuronal Communication is HD mutation. Normal brain function
the effectiveness of gene silencing
another high priority focus for CHDI. requires a great deal of energy, and the
techniques. Novartis has created a
method to measure the amount of There is evidence that a problem may lack thereof can cause symptoms in
huntingtin in tissue, which will allow be caused by too much communication, people without the HD mutation,
clinicians to determine if a potential or “overexcited” synapses in HD. Lynn to show HD-like symptoms.
gene silencing therapy is successful, Raymond of the University of British Holly Hetherington of Yale University
and the extent of its effect. Columbia presented her work on this spoke about MRSI, which is an
condition, and how a currently available imagining technique that can detect
The presence and participation of
drug, memantine, has corrected this which chemicals are present in different
Novartis, and a number of other major
problem in mouse models. parts of the brain, and may therefore aid
pharmaceutical and biotech companies,
was another very positive development Addressing the movement aspect of HD, in understanding the energy problems
at this conference. Whereas there has Michael Orth from the University of Ulm caused by the huntingtin mutation.
always been a presence, this year there spoke about his work with the “motor Mitochondrial behavior in Parkinson’s
were more representatives from the cortex,” an outer surface of the brain, was the topic of Sarah Berman’s
commercial sector than ever before, and which needs to be stimulated at high (University of Pittsburgh) talk. She is
more announcements of developments. levels to cause physical movements in studying abnormal proteins present in
people with HD. Parkinson’s Disease, and her findings
Doug Macdonald, Director of Drug
Discovery for CHDI closed the session Vahri Beaumont, who leads the synapse may prove helpful to understanding
with an overview of the different gene study team at CHDI, described their mitochondrial problems in HD.
silencing approaches that CHDI is efforts, and their collaboration with CHDI’s Leticia Toledo-Sherman
supporting, and their efforts to develop Pfizer Neuroscience, to study described her work in attempting to alter
a new brain scanning technique to phosphodiesterase-10. Blocking this energy metabolism in HD, by blocking a
measure levels of mutant huntingtin protein in mice seems to reverse many protein called pyruvate dehydrogenase
in the brains of people with HD. of the synapse communication issues complex kinase (PDHK). This protein
caused by HD.
2 MAY 2011 | HDSA.ORG
research
HDSA Research
may alter the way mitochondria “digest” believes that Rhes may be the reason HD which could lead to a potential
nutrients and turns them into energy. that these areas are so susceptible to target for therapeutic development.
mutant huntingtin and he continues to
The afternoon was dedicated to Poster Alex Kiselyov of CHDI is working on
investigate this action.
Viewing. At a conference of this designing just such drugs, and his team
magnitude, there is only time for a few Growth Factors was the theme for Day is working with specially designed
of the most advanced developments to Three. A growth factor is a chemical molecules to target receptors that may
be formally presented. There are many produced by the brain that aids growth lead to maintaining neuronal health.
more important discoveries to be shared and maintains the health of brain cells.
The final session of the conference
which are represented by complex Jonathan Bard of CHDI and Clive
was dedicated to the reorganization
posters that describe the work, give Svendsen of Cedars-Sinai Medical Center
of CHDI’s internal teams to focus on
scientific details, and results. During chaired the session that included an
specific aspects of HD. Each team
this session, each poster creator was overview of the many growth factors
works on several approaches to drug
available to answer questions, and and their effects. Dr. Svendsen also
development. Robert Pacifici explained
share ideas with the other conference presented his own work on Glial cell
that CHDI is pursuing more than
participants. These conversations allow derived neurotropic factor (GDNF) with
10 potential drug candidates at any
for the detailed sharing of new data Parkinson’s patients, and how the direct
time, which is more than most large
and provocative ideas which may lead infusion of GDNF into the brains of some
pharmaceutical entities have in their
to further collaborations, and certainly patients had resulted in beneficial results.
pipelines for all neurodegenerative
further advancement in the years ahead.
Moses Chan from NYU explained how diseases. Ignacio (Nacho) Munoz
The featured speaker of Day Two too much growth factor can cause a Sanjuan, VP of Biology at CHDI,
was the pre-eminent neuroscientist decline in memory and mood in mice. presented his team’s work to inhibit a
Dr. Solomon Snyder from Johns Hopkins His work involves determining how the protein, Kynurenine 3-monooxygenase
University. Dr. Snyder shared his work growth factor functions once it finds its (KMO), which is increased in mouse
from the 1960s to present, including specific receptor, and why adenosine models of HD, and how blocking
breakthroughs in our understanding of seems to mimic the effect of some it might alleviate some symptoms.
how neurons work, the discovery of growth factors in the brain. While initial work has shown some
how nitrous oxide affects neurons and improvement in HD mice, lowering
Brain-derived neurotropic factor (BDNF)
much more. Recently Dr. Snyder’s lab KMO has also produced some negative
is produced by cortex neurons, which
discovered a protein called Rhes which effects, so more work will be needed
react with the parts of the brain that are
affixes to the huntingtin protein, and is to determine its value.
most affected by mutant huntingtin.
found in greatest concentrations in the
Jord Alberch of the University of Celia Dominguez, CHDI VP of Chemistry,
areas of the brain most affected by the
Barcelona is trying to understand why explained how her team approaches drug
HD gene mutation. Dr. Snyder
BDNF levels are low in people with design, using their work on reducing
the activity of HDAC4. HDACs (Histone
deacetylases) alter which genes are
turned on and which are turned off, and
Dr. Snyder believes that HDAC inhibitors have reduced symptoms
Rhes may be the reason in HD mouse models, but caused other
side effects. Dominguez explained how
that these areas are so they determined which HDAC to target,
and how the team is working to modify
susceptible to mutant
existing drugs that may be used to
huntingtin and he create HDAC inhibition without the
negative effects.
continues to investigate
—continued on page 7.
this action.
Huntington’s Disease Society of America
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Second Induced Pluripotent Stem Cell
(IPSC) Consortia Workshop
I
n 2009, through the American methodologies, the types of phenotype mutation does not affect reprogramming
Recovery and Reinvestment Act analyses being utilized, and to create efficiency and all iPSC lines express the
(ARRA), NINDS funded three a standard analysis method for iPSC full range of pluripotency.
consortia, to develop well characterized, lines. The assembled group also tried
The use of a novel protocol, primitive
publically available, induced pluripotent to identify any major factors that could
multipotent neural stem cells (EZ
stem cell (iPSC) lines for familial forms prevent the teams from completing their
spheres) were generated from a subset
of Parkinson’s disease (PD), Huntington’s targeted objectives within the two-year
of iPSC lines (180 CAG repeats, 66
project time frame.
CAG repeats and 33 CAG repeats) to
Members of major pharmaceutical and enable easy expansion and distribution
biotech companies were invited to of reprogrammed lines to members of
attend this meeting, to learn about the the consortium. EZ spheres consistently
iPSC initiative, and to voice their interest allowed the generation of forebrain
in participating in the next phase of neurons, some of which expressed
the consortia’s work. Representatives striatal specific markers.
of HDSA and other disease-specific
After presentations by all three
non-profit organizations were present
consortia, discussion revolved around
to discuss their role in the next
the challenges they faced. There was
phase as well.
consensus that there should be a
The Huntington’s Disease iPSC focus on the development of methods
consortium is lead by Dr. Leslie that permit cost-effective, large-scale
Thompson from UC Irvine. Members generation of iPSCs that facilitate easy
of the consortium include Drs. Steven distribution and standardization to allow
Finkbeiner (J.D. Gladstone Institute), for standard analyses by different labs,
Jim Gusella (Massachusetts General and quality control of cells used for all
Hospital), Clive Svendsen (Cedar-Sinai future experimentation. The groups also
Disease (HD) and Amyotrophic Lateral Medical Center), Chris Ross (Johns discussed the development of protocols
Sclerosis (ALS). The first iPSC consortia Hopkins University), Hongjun Song for the storage of differentiated cells,
workshop was held in February of (Johns Hopkins University), Vanessa methods to increase the efficiency of
2010, and during the 10 months that Wheeler (Massachusetts General specific cell derivations, and ways to
followed, over 87 fibroblast lines Hospital) and Marcy MacDonald shorten the length of time in culture.
(12 – ALS, 18-HD, 29-PD, 1-GBA, 3-FTD, (Massachusetts General Hospital),
In addition, there were discussions about
24-population or unaffected family Nick Allen (University of Cardiff),
the creation of reference compound
controls) and 25 iPSC lines have been Elena Cattaneo (University of Milan),
libraries for testing specific cellular
developed and will be publically Marco Onorati (University of Milan),
pathways, and the need to expand the
available for research through the Paul Kemp (University of Cardiff), and
number of available iPSC lines for all
NINDS repository at Coriell. Kwang-Soo Kim (McLean Hospital).
three consortia.
On December 15, 2010, consortia The HD iPSC consortium has created
Representatives of Pfizer, GSK and
members met in Bethesda, MD, to a series of iPSC lines from both control
Lundbeck attended the sessions and
discuss the progress that had been made, and HD patient fibroblasts. The fibroblast
expressed their interest in participating
and share the development of applicable and iPSC lines have CAG repeat lengths
ranging from 20 to 180 repeats. The HD —continued on page 10.
4 MAY 2011 | HDSA.ORG
research
HDSA Research
Participant Involvement Leads to
Breakthroughs in PREDICT-HD Study
H
ave you ever wondered delay or even prevent the devastating The study itself has also changed.
what happens with all the symptoms of HD. The data from over The new “2.0” version of PREDICT-HD,
information collected during 1,000 PREDICT-HD participants has led implemented last year, has introduced
a Huntington’s Disease (HD) study visit? to 62 articles published in peer-reviewed new tasks and questionnaires, as well as
medical journals detailing various findings the use of tablet and laptop computers
about the earliest indicators of HD. that allow researchers to analyze the
data collected at a much more rapid
Recent findings, published in the
pace. But one thing hasn’t changed:
January issue of the medical journal
new participants are still needed
Neuropsychology, offer further support
and encouraged to join the study.
for the finding that small changes,
such as those in cognitive ability, can HDSA Chairman of the Board, Don
be detected very early on in the disease. Barr of Cleveland is a PREDICT-HD
Participants in PREDICT-HD visit a The journal article reports that by using participant who completed his second
nearby study site once a year and sensitive measures, neurocognitive annual study visit last year. He said
complete a series of cognitive (thinking) (thinking ability) signs of HD can be he felt it was his duty as an HD family
tests and questionnaires, undergo a detected in people as far as a decade member to get involved in research.
motor exam and have blood and urine from estimated disease diagnosis. “This study could unlock the mystery
samples taken. As a research participant, Researchers in the article say cognition of HD,” Barr said. “I urge the HD
your important job is finished for the is an important target for treatment, community to continue to get more
year at the end of the visit day, and now because even subtle changes can affect involved in research.”
it’s up to the research scientist to turn work performance, driving and the
North Carolina resident Lauren Holder
these data into a research breakthrough. ability to manage one’s finances.
takes part in PREDICT-HD because she
Researchers in PREDICT-HD analyze PREDICT-HD has changed the way wants to contribute to finding treatments
information from people who have scientists and doctors think about HD and a cure for HD. “Do it and help
been tested for the HD gene expansion by showing that thinking ability and the HD community,” Holder said,
(positive or negative) to determine mood changes often do occur before a encouraging others to take part in HD
the earliest signs of HD. Their goal neurologist makes a formal diagnosis. research. “We’re helping the researchers
is to target future drug treatments to and we’re helping ourselves.”
If you have tested positive or negative
for the HD gene and haven’t been
diagnosed with symptoms, you may
be eligible to participate. For more
information about enrolling, please visit
www.predict-hd.net. You can also email
the study at predict-hd@uiowa.edu,
or call 319-353-4307. You can also
find our YouTube channel by searching
“PREDICT-HD.” ■
Huntington’s Disease Society of America
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Living with HD hd
Decision-Making
for Reproduction in Individuals At-Risk for HD
By Kimberly A. Quaid, PhD, HDSA Center of Excellence at Indiana University
T
he Prospective Huntington on the impact of genetic testing on The theme “Hoping for a Cure” reflects
At-Risk Observational Study reproductive decision-making. In our the fact that several individuals in this
(PHAROS) is a multi-site interviews, we sought to understand the group stated explicitly that their decision
observational study that aims to establish reproductive decisions in those at-risk to have children was based on the
whether experienced clinicians can who had chosen not to be tested. After hope for a cure in the near future. The
reliably determine the earliest clinical reading and re-reading our interview idea was that by the time their children
symptoms of HD in a sample of 1001 transcripts, we identified three groups reached the age of onset of symptoms,
individuals at 50% risk for Huntington’s of participants: there would be a cure available and
Disease (HD) who have chosen not they would not have to worry about
1. Those who had children despite
to be tested. As part of the funding for developing HD. The second theme
knowledge of their risk,
the study, the NIH included money to “Feeling Guilty” reflects the feelings of
conduct qualitative interviews with 2.Those who did not know their guilt expressed by some participants
a subset of PHAROS participants. risk prior to having children; and about the decision to have children
Interviewers were recruited from the despite their genetic risk. The third
3.Those who knew of their risk
research coordinators from the top theme “Magical Thinking” embodies the
and chose not to have children.
PHAROS enrollment sites. Unstructured stated belief, on the part of participants,
open-ended qualitative interviews that they simply would not get HD. The
were conducted on a subsample of For those in Group 1 who knew of fourth theme “Just Another Something”
55 PHAROS participants at six PHAROS their risk and decided to have children, was a direct quotation from one of our
sites across the country: Atlanta GA, we identified four main themes: participants and reflects the desire on
New York City, NY; Dublin, OH; 1. Hoping for a Cure, the part of our participants to live their
Wichita, KS; Minneapolis, MN; and lives as normally as possible while
Indianapolis, IN. 2. Feeling Guilty, refusing to let the risk of HD influence
3. Magical Thinking; and their decisions, including the decision
Most of the literature on reproduction
whether or not to have children. From
in those at-risk for HD has focused 4. Just Another Something. this perspective, HD was just one
possible negative event in a long list of
potential negative life events and should
not be given any special attention when
making life choices.
For Group 2, those who had children
before they knew of their risk, we
identified two major themes:
1. Too Little Too Late, and
2. Getting It Wrong.
The theme “Too Little Too Late” reflects
the fact that in this group, many lacked
information about HD or the inheritance
of HD prior to choosing to start a family.
6 MAY 2011 | HDSA.ORG
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The second theme “Getting It Wrong” taken to heart. In the third theme, and wishes for the future, the experience
characterizes the participants in this “Being Alone,” participants described of HD in your family, your fears of future
group who had information about how they lived their lives avoiding illness, and the desires of your partner,
HD, but whose information was either intimate relationships, or denied all which need to be factored into an
inaccurate or simply wrong. Thus, in this themselves having children in order irrevocable choice. We did this study to
group, they made the choice to start a to avoid harm to others should they shed light on some of the factors that go
family without fully understanding the become ill. As a consequence of these into making these decisions and hope
genetic aspects of HD and only later choices, many voiced worry about the we did so in a manner that is respectful
came to appreciate the fact that they fact that if they were to become ill, there of all choices that were made and adds
may have already passed on the genetic was no one to take care of them. to our understanding of the experience
mutation that causes HD. of being at-risk for HD. ■
When predictive testing using linkage
first became available in 1986,
For the third group of participants, Reference: Quaid KA, Swenson MM,
many health professionals, myself Sims SL, Harrison JM, Moskowitz C,
those who knew of their risk for HD Stepanov N, Suter GW, and Westphal BJ
included, believed that one major use
and chose not to have children, we for the Huntington Study Group PHAROS
of the technology would be to allow
identified three main themes: investigators and coordinators (2010)
individuals at-risk to determine whether What were you thinkin?: Individuals at
1. Vigilant Witness, or not they carried the HD gene and risk for Huntington disease talk about
having children. Journal of Genetic
use further testing and reproductive
2. Stopping HD; and Counseling 19:606.
technologies to prevent passing on the
3. Being Alone. HD gene. We believed this because that
was what we were told by individuals at-
For the main theme “Vigilant Witness” risk. However, the number of individuals
participants shared poignant stories at-risk choosing to be tested remains
about witnessing the decline and death low; most requests for testing come after
of family members due to HD. Many had the at-risk individual has completed his
been actual caregivers of sick relatives, or her family, and the number choosing
often a parent, and most had witnessed prenatal testing is miniscule.
the destructive forces of HD in several
generations. In the second theme in The decision whether or not to have a
this group, “Stopping HD,” many had child is intensely personal under the best
been told in no uncertain terms, and of circumstances. When there is a 50%
sometimes by their own family members, chance to pass on an incurable genetic
not to have children, and to stop the line disorder, the decision becomes even
of HD in their family. This advice was more complicated. There are your hopes
…Research— continued from page 3. Institute of Neurology introduced community, both academic and those
HDBuzz.net which will feature articles from biotech and pharma, was striking.
In addition to the formal presentations,
on HD science written by scientists in The evening’s conversations were a
Gillian Bates and colleagues announced
easy to understand terminology. continuation of presentations, and while
HD PLoS, a peer-reviewed online journal
the difficulty of the shared objectives is
which will allow for quick publication of At the end of each day, and at the
clear, the progress being made is just as
new work on HD. final gathering to mark the end of the
evident, and very promising. ■
conference, the unique collaboration
Jeff Carroll of MGH/Harvard Medical
between members of the HD research
School and Ed Wild of UCL
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The Earliest Signs of HD:
A Review of Kids At-Risk for HD Study
By: Dr. Peg Nopoulos, Department of Psychiatry, University of Iowa Hospitals and Clinics
I
s it possible that there are subtle growth, development, or motor skills. Foundation, The Study of Kids At-Risk for
signs of Huntington’s Disease (HD) Understanding when these changes Huntington’s Disease (referred to in short
throughout life – even as far back begin can help us understand important as Kids-HD) is being conducted by
as childhood? This is a question being things about the nature of HD. Dr. Peg Nopoulos at the University of
asked by researchers at the University Iowa in Iowa City. Participants can come
More importantly, identification of the
of Iowa who are conducting a study to Iowa from anywhere in the country
earliest signs of the disease may help
on children and adolescents who are and are reimbursed for airfare, mileage
to track signs and symptoms over time
at-risk for HD. (if driving), hotel and meal costs for
and possibly help to better identify
their visit to the study site. Participants
We know from studies in adults who the earliest phases of disease onset.
are also compensated for their time and
have had presymptomatic testing for HD, Ultimately, this could help treatment
participation in the study. A typical day
that subtle changes in brain structure, and even prevention strategies for HD.
for the study includes paper and pencil
thinking, behavior, and motor skills
Funded by the National Institutes testing of thinking skills, filling out forms
can be detected up to 15 years before
of Health (NIH) and the CHDI regarding behavior and emotion, a motor
onset of disease. Is it possible that
examination, collection of blood or saliva
these changes are present lifelong and
(spit) sample, and a brain MRI scan.
therefore can be detected in childhood? We know from studies in
Parents or grandparents may accompany
One reason why it is thought that signs adults who have had the study participant. Siblings can be
of HD can be seen lifelong is that the
presymptomatic testing for enrolled together and tested on the same
gene responsible for the disease is an
day for convenience of the families.
important gene in the development of
HD, that subtle changes in
the brain. It may be that when this gene Eligible participants are children or
is abnormal, then brain development brain structure, thinking, adolescents from ages 6-18 years of age
is also abnormal and it may lead to who have a parent OR a grandparent
subtle signs of the disease that can be behavior, and motor skill who has either tested as gene-expanded
detected lifelong and all the way back for HD or has been given the clinical
can be detected up to 15
into childhood. These may be changes diagnosis of HD. If the potential
in thinking or learning, mood, behavior, years before onset of disease. participant has a grandparent with HD
and their own parent has not been
tested, that parent does not need to
get tested in order for the child/
adolescent to be enrolled.
Although the blood or saliva will be
assessed for the HD gene expansion,
results of this assessment are for research
purposes ONLY – the results are blinded
and are not released to the participant,
the family, or any member of the
research team including Dr. Nopoulos.
For more information on this study, email
Kids-HD@uiowa.edu or call tollfree:
1-866-514-0858. ■
8 MAY 2011 | HDSA.ORGliving with
Living With HD hd
Adapting My House for HD
By: Katie Moser
I
n February 2010 I bought a house.
I was probably the most difficult
able-bodied person that Bob, the
realtor, ever had to deal with. Some
of my requests I thought were pretty
normal, that I wanted a house with two
floors that was not attached to any other
houses. After this simple request came
all my others; I wanted minimal, if any,
steps to enter, a bedroom, bathroom,
and laundry room on the first floor,
doorways and hallways that were easy
to navigate, an attached garage, and
property that was not on a hill. I did not
share with Bob that I was planning for
my future, when I would start to develop
the symptoms of Huntington’s Disease.
instead of the current lamp I have on a make it safer to sit on and stand from.
I know eventually I will have to do bedside table. Also putting an arm chair Some of these items might be covered by
some work on my house, mostly on in my bedroom will give me a place to my insurance if I work with my doctor to
the kitchen, because as a prolific baker sit when I am dressing. Throughout my obtain them.
I spend a lot of time in there. The rest house, including my bedroom, I will
make sure that there is no clutter or extra
will be on the first floor bedroom and Some of these items might
bathroom, and a ramp to help with the furniture that requires stepping over or
two stairs in front. around, because I know that this could be covered by my insurance
cause me to fall.
Currently my bedroom and bathroom if I work with my doctor to
are on the second floor, along with my In the bathroom across the hall, I will
closet, which is a room itself. When need to install a new tub or larger obtain them.
I start to experience symptoms, and shower stall that would allow me to
movements that affect my balance and place grab bars in and around it, and put When I was looking for furniture I
my ability to walk, I will move down to a shower chair or bench to sit on while found a dining room set that had chairs
the main floor. Unfortunately, I will have I bathe and dry off. Luckily I already with a wider area between the legs,
to leave my closet upstairs. installed a hand held shower hose and and two arm chairs, which make them
non-slip mat, which will continue to be more difficult to tip over or fall out of. I
In the bedroom, I might require a bed
useful when I’m symptomatic. I do need will need to move the throw rug that is
and mattress that is firmer and easier
to find a mat for outside the tub that has beneath the table to prevent tripping and
for me to sit up on and stand from, as
a non-slip bottom, or my caregiver might put good lighting throughout my house
well as to turn and position myself in,
have to make sure the floor is dry before with switches that do not require effort
which could also require grab bars
I step out of the tub. to turn on and off.
positioned on one or both sides. I will
look into different lighting that might I will also need to place grab bars or a —continued on page10.
be attached to the wall above my bed, 3-in-1 commode around the toilet to
.
Huntington’s Disease Society of America
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Huntington’s Disease Society of America
Huntington’s Disease Society of Americaliving with
Living with HD hd
These are some of my plans for making Katie Moser is an HD friend, family
my home handicapped accessible member, advocate, caregiver,
before I become symptomatic. When and patient. She graduated from
the time comes, I will need help with Elizabethtown College in 2003 with a
many of these tasks, such as building degree in Occupational Therapy and a
the wheelchair ramp at my front door, Peace Studies minor. In 2007, Katie was
so I will look for someone who has the the subject of a front-page New York
knowledge and experience to do this. Times story, “Facing Life With A Lethal
My caregiver and I will also speak with Gene,’’ which subsequently won
my doctor or social worker to be referred a Pulitzer Prize. She enjoys traveling
to an occupational therapist who to speak about HD, which happens
can come into my home and suggest often in her position with Lundbeck, Inc.
additional changes to the environment. as Manager of Advocacy and Patient
Support. Her current life goals are to
If you find that you are having difficulty
find a cure for Huntington’s Disease
in your home, for any reason, I
and travel to all 50 states.
encourage you to speak to your doctor
and seek the advice of an OT to make
any necessary changes to maintain your
safety and independence. ■
…Research— continued from page 4. As plans are being made to secure tools to scientists around the world
funding that will enable the continuation exemplify the value of these
with the consortia in the
of the work of the consortium, it was collaborative efforts. ■
“pre-competitive” work to be done.
clear that the most immediate benefit
They agreed that there was valuable
of these iPSC lines will be to provide an
work being done in academia that
in vitro system for target validation and
could help accelerate potential drug
screening, and to evaluate the potential
development opportunities for them,
of proposed therapies.
and that industry very likely had already
developed, but currently did not use The creation of an NIH/NINDS website,
assays and other resources that could be with information on the protocols, and
of benefit to academic laboratories. the formal banking of the lines at the
Coriell repository, for access by any
Since the creation of this iPSC
non- or for-profit entity, are among the
consortia, CHDI, the Michael J. Fox
next steps for the consortia.
Foundation and the ALS Association
have contributed funding to support the In early discussions around the creation
work of these investigators, while others of this initiative, the collaborative nature
present at the conference, including of the HD research community was cited
members of HDSA, Project ALS, and as a motivating factor. The development
Parkinson’s Disease Foundation voiced of the initial set of iPSC lines, and the
their support for the continuation of this continued efforts to expand the reach
unique project. of the consortium to deliver important
10 MAY 2011 | HDSA.ORGliving with
Living With HD hd
Augmented Communication Devices
By: Kathleen Samulski, Wayne Assistive Technology
Introduction
C
ommunication ties us to our
environment. Whether it’s to
socialize, express needs or
convey information, communication is
what connects us to the world. When the
ability to communicate deteriorates or
is lost, individuals may feel isolated and
trapped. Over time, the loss of access
to communication with loved ones and
caregivers, and they with us, can break
down the system of communication
and even caretaking. Those at-risk for
Huntington’s Disease (HD), HD positive,
to note that the earlier these methods shape of squares – mimicking shortcuts
HD symptomatic, and HD caregivers live
and tools are introduced, the more on a computer desktop.Each app is
in fear of a time when communication
useful they are. Future users can help somewhat the equivalent to a software
may be of concern. Fortunately, with all
program language and learn to use program that resides on a computer
of the recent technological advances,
devices while they are cognitively for a particular task – word processing,
there are many non-traditional ways to
and physically well. picture editing, Internet surfing, etc.
access communication.
Upon touching the app icon on the
Apple iPad™ iPad™, the application launches just as a
Augmented Assistive double click to the shortcut on a desktop
Communication (AAC) The Apple iPad™ is a tablet computer
would launch software on a computer.
that offers access by direct select –
Augmented Assistive Communication Now the user can access the app for the
meaning that individuals physically
(AAC) is the implementation of desired purpose by a touch of the screen.
interact with the touch screen to make
hardware and software to assist For example, checking the weather from
their choices. The iPad 2™ is 9.5” by
individuals who have cognitive and their iPad™, users may use a weather
7.3.” It is .34 inch thick and weighs
physical limitations that prevent app. One might listen to music with
1.3 pounds. The iPad 2™, which was
them from communicating in their an Internet radio app. We can check
recently released, has a camera, digital
environment. AAC can range from Facebook with the Facebook app. It
recorder, built-in microphone, and
simple eye-gaze methods to elaborate is exciting to witness app developers
built-in speakers. The iPad™ has a
systems that can cost many thousands targeting iPad™ technology to create
10-hour active-use battery life. When
of dollars. The exciting 2010 release of medical apps to help those with
the device is off or in sleep mode, no
Apple’s iPad™ is changing the playing special needs.
battery life is used.
field for those who have obstacles in
effectively communicating. This article Access
iPad™ Applications (apps)
will focus on iPad™ technology, access
When fine motor skills deteriorate, it
methods and various apps, which offer The term “app” is short for application.
may be difficult for individuals to use
alternate communication access for Within iPad™ technology the apps are
those with special needs. It is important represented on the screen as icons in the —continued on page12.
Huntington’s Disease Society of America
11
Huntington’s Disease Society of America
Huntington’s Disease Society of Americaliving with
Living with HD hd
their fingers to touch the iPad™ screen to accessibility, users can record their Conclusion
choose their desired output. But they can own voice or use voice supplied.
The exciting iPad™ device technology
select an app that has a switch program
Simple Text to speech: these keeps us on our toes! It’s expanding at an
that will allow them to scan their choices
apps offer simple text to speech incredibly rapid rate. Please contact the
using a switch and then select the one
features and the option to author if you have questions.
they want using a second switch. Hands,
create a core library.
feet, heads, elbows, and more can be Although the emphasis in this article was
used as access points. – Speak It on AAC, there are numerous iPad apps
that could benefit people with HD:
– NeoKate
Mounting
• E -books – reducing the weight of
– NeoPaul
The iPad™ can easily be mounted to lugging books, turning pages
allow access to individuals with special – Talk Assist
• Word prediction – reducing keystrokes
needs. It can be mounted to tables,
– iCommunicate
wheelchairs, hospital beds and more, • S peech Recognition Software –
thus providing the individual with Other AAC Devices reducing keystrokes
continuous access to their device.
– Grace: simple picture system that •G
aming apps – easily access games,
builds sentences from relevant images. for example, crosswords, Sudoku
Applications
and scrabble using the accessible
– ArtikPics
AAC touch screen
– Look2Learn: uses photographs to
Proloquo2Go: comes with a complete You can contact Kathleen by emailing:
express wants and needs.
library of core language, allows the Kathleen.samulski@lpps.info or visit
user to customize language, uses – Predictable: unique communication www.resa.net/atrc. ■
pictures or text, and offers speech aid solution.
output.
Visual Schedules: create
TapSpeak Choices: offers drop schedules ranging from simple
and drag for creating and editing to elaborate which prepare
communication boards, has large individuals for the future.
library of symbols, has switch
– First Then Visual Schedule
Burden of HD Survey for Caregiver and the Person with HD
The Huntington’s Disease Society of America has partnered with efforts. The email would be used only to clarify responses on the
the Euro-HD Network to collect information on the burden of survey. If you do not wish to give the email you use daily, you can
care for Huntington’s Disease. The two surveys, provided by create one just for this survey by going to hotmail, gmail, yahoo, etc.
the Euro-HD Network, seek to measure the economic, social
We invite caregivers to go to www.hdsa.org/boccaregiver. We
and psychological impact of Huntington’s Disease on both the
invite people with HD to go to www.hdsa.org/bofhd to complete
caregiver and the person with HD. HDSA has adapted each survey
the self-assessment. If you are unable to complete the survey
so it can be answered online. All data collected by HDSA will be
yourself, please ask your caregiver for assistance.
shared with the Euro-HD Network so it can be incorporated into
their study results. Should you have any questions, please contact Deb Lovecky at
dlovecky@hdsa.org. If you cannot complete the survey online and
Both surveys are completely anonymous but HDSA is asking for
prefer to answer the questions on a printed survey, please contact
the city and state in which you reside and an email you wish to
Seth Meyer at smeyer@hdsa.org or call 800-345-4372 ext. 240.
share. The geographic information will be used for future legislative
12 MAY 2011 | HDSA.ORGliving with
Living With HD hd
Living Positively At-Risk for HD
Jang-Ho Cha, MD PhD, Chair, Center Programs & Education Advisory Committee
I
am often asked by HD patients and
their families about what the best
way is to live.
I wish I knew for sure. This is a really
tough question to answer, but here’s
what I know: At this point, there is no
treatment or intervention that is known
for sure to slow down or delay the
progression of HD. As a result, there is
nothing that I can tell people for sure
that will be helpful.
On the other hand, there are reports
about medications or nutritional
supplements that might be helpful. These are important questions, and is still out on whether these nutritional
Should one try to start taking these most of the time, the answer is “I don’t supplements are really helpful or not.
medications? Most of the time, the know.” By the way, these questions are
Finally, I recommend non-medication
answer is no. so important that we would all like to
approaches. I am a firm believer that
know. Unfortunately, there are no quick
For example, a fairly typical occurrence maintaining mental and physical activity
answers for these important questions.
is that there is a report that some is helpful for both HD patients and
It is exactly these kinds of questions
scientist somewhere has administered a at-risk persons. Part of my belief comes
that are addressed in clinical trials,
medication to HD mice with beneficial from working closely with HD patients;
and answering these important questions
effects. “Should I start taking it?” For one, I think those patients who do more, do
is why participation in clinical trials is
I think it is good news any time there better, with appropriate limits for what
so important.
is any progress, but one should be very they can handle.
careful about interpreting these kind So what are we to do in the meantime?
In 2001, Anton van Dellen and
of reports. For every report of benefit For all experimental medications that
Tony Hannan, both then at Oxford
in an HD mouse, even more important do not have an adequate safety record,
University in England, made an amazing
questions are raised: I strongly recommend not taking these
observation regarding environmental
medications. Even well-researched
• Will this treatment work in people enrichment. They did an experiment
medications are eventually found to
with HD? in which one group of HD mice were
have serious, even deadly side effects, so
housed in standard conditions and the
• Will this treatment work in people I am very reluctant to recommend any
other group was put into an enriched
who are at-risk for HD? medication that hasn’t been subjected
environment. For mice, this means a
to careful review by the Food and Drug
• Is this treatment safe for people new toy in the cage every three days,
Administration (FDA). I think that there
with HD? and exercise wheel, and other mice.
is more experience for the nutritional
There were no medications given to the
• Will this treatment be harmful supplements, creatine and coenzyme
mice. Surprisingly, the ‘enriched’ mice
for people with HD? Q10, although still not approved by
showed better motor performance,
the FDA, and so I discuss these options
• What is the right dose? with my patients. Importantly, the jury —continued on page 21.
• Have these results been duplicated
by another lab?
Huntington’s Disease Society of America
13
Huntington’s Disease Society of America
Huntington’s Disease Society of Americacaregivers
Caregivers Link link
“Ask Medicare”
A Website in Support of Caregivers
E
veryone is aware that Medicare trustworthy sources of information,
is a health insurance program outside the Medicare program, about Did you know that there are state
for people age 65 or older, but issues that affect the disabled and programs for people with limited
it is also available to people under age their caregivers. income and resources that pay some
65 with certain disabilities, including or all of Medicare’s premiums and
For those who have not yet applied may pay Medicare deductibles
people with HD of any age who can
for benefits, there is a section called and coinsurance?
meet disability and other eligibility
Navigating Medicare, which can
requirements.
help walk the caregiver through the Or that Social Security has programs
application process. It also contains to help people with Medicare with
information about Medicare Drug Plans prescription drug costs?
and Medigap Insurance from private
Or that Medicare will pay for
insurance companies. There is also a
preventative care such as annual
webpage that can help you create an
physicals, flu shots, cancer
online file of your loved ones medical
screenings, and some other tests?
records, called a Personal Health Record
which, for example, could help get your
loved one the fastest and best care in
Downloadable handbooks can also be
an emergency by providing information
found on the site, including: Resources
about medications, allergies, and other
and Benefits for Caregivers and the
important data.
Handbook for Long-Distance Caregivers.
Caregivers looking for information on Finally, caregivers can sign up for a
benefits can go to a section called bi-monthly e-newsletter with information
Help with Billling, which can help you on important dates such as open
find out what your loved one’s coverage enrollment, changes in the program, etc.
As in so many other aspects of daily
includes, how to read the summary
living, the caregiver of a person with
statement and how to file an appeal.
HD is often the one to apply for and Caregiving for a loved one
manage their loved ones benefits. To Another section is called Care Options
help with that process, the Centers for
who is disabled by HD
and covers topics such as finding a
Medicare and Medicaid Services has doctor who takes Medicare, how to requires patience and
created a portal to the Medicare website locate local Home Health Care providers
specifically for caregivers called and how to prepare to pay for Long Term persistence, a thick skin
Ask Medicare, which can be found at Care. Medicare does not have programs
and a generous heart.
www.medicare.gov/caregivers. designed specifically for people with
HD, but some of the available services
This web page brings together many
may help some families cope. Caregiving for a loved one who is
sources of information on services
disabled by HD requires patience
and benefits available to Medicare Finally, there is a section called and persistence, a thick skin and a
recipients, as well as some specifically Overwhelmed? Get Help. This area of generous heart. In the struggle to
for caregivers. Some of the links are the website covers topics such as finding balance caregiving, career and other
specifically about Medicare and local eldercare resources or getting help family responsibilities, Ask Medicare
its benefits and others take you to with paying for prescription drugs. is a timesaving information resource. ■
14 MAY 2011 | HDSA.ORGcaregivers
Caregivers Link link
Navigating Emergency Room Visits
By Steven Hersch, MD, PhD
HDSA New England Center of Excellence at Massachusetts General Hospital, Department of Neurology
T
he emergency room (ER) is the
last place anyone wants to be, but
sometimes it’s the only place to
deal with serious medical problems. For
individuals with Huntington’s Disease
(HD), emergencies can include physical
injuries, infections, aspiration, psychiatric
problems, like severe depression or
psychosis, and sometimes just reaching
a point where it’s no longer physically
safe to be at home. An ER visit can be
especially difficult when the staff there
doesn’t know you, and is unfamiliar with
HD. No matter who you are, emergency
room care can take a long time and may
not always solve the problem you went someone you know, you can choose a • If it seems possible that your ER visit
there for in the first place. hospital that might know you or at least will become an admission to the
have your records and prior lab and hospital, bring any personal items
A trip to the ER may also have nothing to radiology studies. you might need like your cell
do with HD, but having HD can have an phone and its charger, a change
impact on your experience. For example, Here are my suggestions:
of underclothes, or any other
HD can be intimidating to ER staff that • Bring a list of your medications and indispensible personal items.
may be challenged by the neurologic supplements or the medication bottles
symptoms and also by some of the If you are discharged from the ER, be
themselves.
personality and behavioral symptoms. sure you understand what happened,
These challenges can affect their • If you are participating in a drug study, save any written information you are
interactions with you. ER staff can also bring information about the study, such provided about the visit and about
sometimes deal poorly with individuals as the consent form and the study drug. recommendations or arrangements for
with HD because they don’t understand follow-up; go over any instructions you
• Bring a list of your medical problems,
the disease and its effects. receive about what to do after you get
medical history, allergies, and
home; ask the ER to send records to your
To help avoid some of the difficulties medications you have used in the
physicians; and have a plan for what to
caused by HD from becoming crises that past but that might not have worked.
do for follow-up on any tests
necessitate visiting the ER, obtain regular • If you have any X-rays related to or treatments. ■
medical care. If you have a question the problem causing the ER visit, Reprinted with permission from the
about whether the ER is your best option bring them. New England Regional newsletter and
for a particular problem, try to reach the New England Center of Excellence.
your regular physician or the doctor on- • Bring your insurance information.
call for advice before going.
• Bring contact information for your
Travel to an ER by ambulance is often regular doctors in case the ER staff
unavoidable and will almost certainly needs to reach them and also to
mean going to the closest one. If it’s facilitate getting records from the
safe for you go on your own, or with ER visit back to them.
Huntington’s Disease Society of America
15
Huntington’s Disease Society of America
Huntington’s Disease Society of AmericaYou can also read
