Newsletter February 2005
In this Issue
I sincerely hope that none of you were affected by the terrible disaster caused by the Boxing Day Tsunami.
2005 will be another challenging year for Huntingtons families and everyone at the HD Centre has been busy planning our programs for the year. As in the past, the Management Committee is very mindful of the need to fundraise.
One of our endeavours for this year is to raise sufficient funds to support Ms. Iris Simpson attending the World Congress on Huntingtons Disease which is to be held in Manchester, England from the 10th to the 16th September. You will know from your Newsletter articles that a large amount of research is being undertaken in many countries to further understand the complexities of HD. The Queensland Associations ability to fund a representative to attend such a Congress, gives us first hand knowledge of what is currently happening world-wide in the HD arena, so your support of the Association is both encouraged and appreciated.
Elsewhere in this Newsletter are other suggestions that some of you may be able to assist with. If anyone can give us any more ideas, please let us know. The Committee is hungry for new ideas so dont hold back pick up the phone and discuss your suggestions with us.
Thank you for your support last year and best wishes for a tremendous 2005.
Ray Bellert, President
Hello to you all and I hope 2005 holds some exciting things for all of us involved in HD in Queensland.
The Management Committee has been busy planning social and fundraising events for the year. I really appeal to everyone to support your HD Association in whatever way you can during the year. You will be well informed of coming events in the Newsletter, so please help us to improve awareness of Huntingtons Disease in Queensland and raise funds to support the work of the Association. The Committee consists of 10 voluntary members, plus 2 staff members who regularly attend monthly meetings, so our numbers are small, and we all really appreciate your support and encouragement during the year.
National HD Awareness Day 20th May, 2005: One of the Awareness/Fundraising suggestions that has been considered is the hosting of many Morning Teas across the State on Friday the 20th May or thereabouts. This idea has developed from the Cancer morning teas that have been held in recent years.
The plan is for interested persons to host a Morning Tea by inviting friends, relatives, work mates, anyone to join in a Morning Tea. You may be able to participate by involving people in your office or workplace to join you in this way. A picnic in a park if there are young children involved the options are endless.
A small admission fee would be charged and information relating to HD would be provided by the Association to increase awareness and knowledge of Huntingtons Disease.
I believe this is a way in which any of us can assist with fundraising wherever we are in Queensland and also to provide the opportunity for people to know more accurate and up to date information about this often misunderstood genetic disorder.
If you are interested in becoming involved in an activity such as this, please call Barb or myself at the HD Office on 07 3391 8833 for further information. Lets do this together!!
I would like to recognise the financial support of the Townsville Family Support Group. This small group of people work extremely hard to raise funds plus community awareness. They have assisted the Brisbane office by meeting some of the associated costs involved in providing Welfare Services in North Queensland. The Welfare Staff will attempt to visit several areas in regional Queensland during their working year, and this financial assistance from our friends in Townsville is genuinely appreciated.
There are some staff changes taking place in the Welfare sector at present. Jeff Taylor, who has been working with us for 10 months, is now working 2 days each week and we are in the process of interviewing for a worker for the other 3 days. The new part-time Welfare Officer will be introduced in our next Newsletter.
Keep healthy my friends and enjoy this wonderful country we call home. Kindest regards,
Gwen Pratten, Welfare Coordinator
Each year, the Science and Research Session at the Annual Conference of the Huntington Society of Canada provides an inspiring summary of the latest research into Huntington disease and a glimpse of the work involved in finding a cure.
This year they were fortunate to have two high-profile researchers on hand, both recipients of the Huntington Societys NAVIGATOR awards. Dr Janice Braun discussed the work her laboratory is doing into chaperone molecules, while Dr Blair Leavitt summarized the exponential progress that has been made in understanding HD.
Its an enormous job. Cells contain billions of proteins that turn over every two weeks or so: new ones are created and old ones are removed. Its also an essential job. If a protein doesnt fold into the correct shape or if its in the wrong part of the cell, it cant perform its normal activity. This can lead to disease.
Thats why its so intriguing that the so called protein balls formed from the protein produced by the Huntington gene attract certain chaperones. Normally, chaperones are scattered throughout the cell. However, when the researchers in Dr Brauns lab inserted the Huntington gene into a cell, they saw HSP 70 chaperones accumulate in the cells nucleus, concentrated around the protein balls. The researchers suspected this meant the chaperones were no longer doing their essential jobs throughout the cell.
To test this suspicion, they measured the activity of another chaperone, cysteine string protein, which blocks calcium channels. When they inserted the Huntington gene into the cell, calcium started flowing through the channels.
Clearly, expanded huntingtin the protein produced by the gene for HD was interfering with the work of the chaperones. And because calcium channels play an important role in sending signals between brain cells, these experiments give us new insight into how huntingtin disrupts brain cells.
It also appears that huntingtin blocks the action of syntaxin, another calcium channel regulator. The more huntingtin protein researchers added, the less syntaxin was able to control the calcium channels and stop calcium from flowing into the cell.
This is particularly interesting given the problems with cellular calcium in nerve cells in Huntington disease, says Dr Braun.
The last five years have been tremendously exciting, as our basic knowledge of HD has expanded exponentially. Much of the challenge now is to take all these things that scientists are discovering at the lab bench and transform them into treatments for people affected by HD.
While the major features of HD were well described by the late 1800s, the major breakthroughs began in 1983 when scientists first figured out which chromosome was home to the HD gene, and then ten years later when the CAG repeat expansion mutation in the HD gene was identified, direct genetic testing was identified, direct genetic testing became available, and the role of the CAG repeats in modifying disease onset were first understood.
The next fundamental step forward in HD research happened in 1996, when the very first transgenic mouse model of Huntington disease was described. Once scientists had an animal model of the disease to study, research into Huntingtons exploded.
The scientific progress made over the last five years has been so dramatic that it cannot be summarized in a few paragraphs: there have been literally thousands of papers describing different aspects of how the mutant huntingtin protein that is generated by the expanded CAG repeat in the HD gene affects cells.
Dr Leavitt made a controversial prediction: he suggested that we may currently understand enough about the possible ways that mutant huntingtin protein causes HD to develop treatments but we now need to translate this basic knowledge into effective clinical therapies. That means taking the most promising possibilities and cellular targets for treatments and testing these treatments, first in animal models and then in well designed human clinical trials.
Weve learned a lot, but for everyone in the room, every day that goes by without a cure is one day too long, he says. So Im not saying that we are already there Im saying we are almost there.
The development of accurate mouse models of HD is a key to developing treatments as quickly as possible. Dr Michael Haydens laboratory at The Centre for Molecular Medicine and Therapeutics has created transgenic mice that model many of the features of HD. In the early stages these mice are hyperactive, mimicking the increased movements seen in the early stages of Huntington disease. They also develop progressive problems with walking and balance, which are likewise symptoms in the human disease.
When the mice reach six months of age, their brain cells start to show abnormalities and evidence for dysfunction, and by nine months of age, specific brain cells start to die. As the mice age, cognitive symptoms also begin to appear the mice no longer learn as well as before.
Because the mouse model reflects the human disease so well, its an excellent model for testing possible drugs, gene therapy, and cellular replacement therapy. Researchers in Dr Leavitts laboratory can measure the effects of a treatment on the physical and cognitive symptoms in the mice as they age, and they can also see whether or not the treatment prevents brain cells from dying.
For example, Dr Leavitts lab has tested ethyl-EPA, a modified essential fatty acid (eicosapentaenoic acid or EPA) in the HD mice. They discovered that ethyl-EPA treatment of HD mice caused a modest improvement in some of the physical symptoms in the HD mice, but unfortunately didnt seem to have any protective effects in the brains of these mice.
In a recent human clinical trial of ethyl-EPA in HD the results were also mixed. A straightforward comparison of all the patients in the trial who received a placebo and patients who received EPA did not show a benefit as measured by a significant difference in neurological (motor) symptoms.
However, a closer look at the data from the trial suggests that a sub-group of patients may have benefited from ethyl-EPA and one sub-group didnt. This analysis raises the possibility that some patients who are earlier in the course of the disease or perhaps those with a lower CAG size may have a modest benefit. Unfortunately this trial was not designed to test this and only suggests a possibility that will require further trials to prove this. These new trials will start early in the New Year, and several Canadian centers will be involved.
Does this mean people with HD should take fish oils? My take-home message is that there is a lot of reasonably good evidence that increasing amounts of omega 3 fatty acids in your diet is probably safe and is likely good for your heart and general health, says Dr Leavitt. Theres also a possibility that it may be helpful for Huntington disease, he adds, I dont prescribe it to people, but I think is probably not an unreasonable supplement to take.
There are other clinical studies going on at the moment. Researchers are waiting with great excitement to find out the results of a major European Riluzole study. Riluzole is an agent that may decrease excitotoxicity, one of the first things that go wrong in brain cells if you have HD. The HD brain cells may react too strongly to chemical signals from other brain cells, and as a result they become over-stimulated and eventually die.
Riluzole has been proven to have some benefits in other neurodegenerative disease
I dont think that this is going to be a cure, says Dr Leavitt, but were hoping that its going to delay progression, which is what it did in ALS. The minocycline study also wrapped up recently. A recent Huntington Study Group trial showed that minocycline which is actually an antibiotic is safe enough to use in wider trials designed to test how effective it could be at treating HD, although he made it clear that there is currently no evidence that minocycline is effective in HD patients.
Were on the brink of new treatments, Dr Leavitt concludes, but cautions that there are hurdles in making the transition from the lab bench to clinical trials and, ultimately, to successful treatments. The financial hurdle is obvious: research costs a lot of money. Finally, people and families affected by HD must be advocates for HD research with the various levels of government and with regulatory bodies such as the FDA and Health Canada. It is also critical that people become involved in clinical trials when they are launched. Participate, says Dr Leavitt. In order to move forward, we need everyone involved.
Acknowledgement: Horizon, Huntington Society of Canada 2004 Annual Conference.
Reprinted: Gateway AHDA (NSW) Inc.
Hereditary Disease Foundation Symposium
Changes, Advances and Good News (CAG)n
In August 2004, the Hereditary Disease Foundation (HDF) gathered over 300 scientists most supported by the HDF to share their latest findings on Huntingtons disease (HD). Over the course of an intense three days and some 196 presentations, researchers offered new insights into the significance of the aggregates (clumps of abnormal huntingtin, the protein made by the HD gene) found in the brains of HD sufferers.
They presented new understanding of how mutant huntingtin disrupts communication between cells. And they discussed new possibilities for therapies, such as a technology called RNA interference, the use of intrabodies (like antibodies, only inside the cell), and a drug called tetrabenazine, which shows tremendous promise for the treatment of chorea.
The meeting drew both long-time HD researchers and young investigators just entering the field of Huntingtons disease research. One hundred more investigators attended this August symposium than came to the meeting two years ago, another sign of the tremendous and growing effort focused on finding treatments for Huntington's disease.
Participants came from 15 countries and 21 U.S. States. They represented over 120 different universities, government organizations and pharmaceutical companies. These included Harvard, Columbia, MIT, Johns Hopkins, Duke, UCLA, UCSF, Caltech, Salk Institute, Oxford, Cambridge, Kings College London, University of British Columbia, NIH, FDA, Novartis, Prestwick Pharmaceuticals, Inc., Forest Laboratories, Inc., Trophos, Genzyme, Vertex Pharmaceuticals, Inc., EnVivo Pharmaceuticals, and Structural GenomiX, Inc.
While researchers have known for some time that mutant huntingtin misfolds and can form clumps called aggregates, they have disagreed about whether these aggregates make the cells sick or actually protect the cells from further damage.
Cellular Traffic Jams
Therapies and Clinical Trials
We were fortunate to have at the meeting the director of the Office of Orphan Products Development of the FDA, Dr. Marlene Haffner, who encouraged investigators to contact her with new ideas. Dr. Haffner described the Office of Orphan Products Development Grant Program, a funding project within her division, to encourage clinical development of products and help researchers run clinical trials with drugs or devices for orphan diseases. She urged scientists to expedite the time between basic science discoveries and releasing a new drug on the market.
Reprinted: Gateway (AHDA (NSW) Inc. November/December, 2004
Presented by Huntingtons Research Group Victoria and Australian Huntingtons Disease Association (Victoria)
Conference Room, St Georges Hospital, Kew, Victoria
Activity levels and age of onset in Huntingtons Disease
In Huntingtons disease (HD) the only proven factor to be related to onset age is the CAG repeat number, with longer repeat lengths associated with earlier average age of onset. Nevertheless, this only explains 50-73% of the variation observed. An HD mouse model provides evidence for the protective effects of environmental stimulation. The aim of the present study was to identify and measure a series of environmental factors, including physical, intellectual and passive activity, occupation and education, to determine if they modify the age of symptom onset in HD.
Predictive testing for Huntingtons disease in Victoria: a database
An HD Predictive Testing Program has existed in Victoria for almost 14 years. Testing initially involved family-based linkage analysis which was superseded 11 1/2 years ago by a direct test of at risk individuals. The current program follows an international protocol where the gene test is preceded by a neurological assessment and several counselling sessions.
A database is under construction collating data on everyone who has been seen since the programs inception (over 700). This constitutes one of the worlds largest cohorts to be seen by a single program, putting us in the unique position of having well standardised assessments and a continuity of data collection not available to most other studies.
The aim of the study is to compile an accurate demographic and clinical picture of predictive testing in Victoria who has presented for testing and when, who has completed the program, how useful the service has been and how it is evolving over time.
The core table of the database comprises anonymous data drawn from a variety of clinical records held at Genetic Health Services Victoria. Information is being assembled under three major headings:
Review and future directions
Current Victorian research is at the forefront of understanding the neurobiological basis of cognition and motor control, environmental factors that could mediate onset of disease, and molecules that could provide targets for future development of novel therapies. The presentations today provide a collected effort in improving our understanding about the consequences of HD.
This research in particular has paved the way in generating understanding regarding:
The establishment of the HRGV (February 2004) has brought together individuals from a wide variety of backgrounds all working toward a common goal. Our collected commitment to understanding HD and its consequences has allowed for a unique partnership between individuals from a wide range of disciplines. I would like to congratulate all of us, and especially the families, as without them our knowledge of HD would not be where it is today.
Nellie Georgious-Karistianis, PhD
By Julie Denomme, Northern Ontario Resource Centre Director
This years Families in Focus Forum, at the HSC Annual General Meeting and Conference highlighted the caregivers of our HD community. This years topic, Caring with Compassion and Commitment, moderated by Julie Denomme, Director of the Northern Ontario Resource Centre, highlighted key points that caregivers must consider throughout their quest as a caregiver in order to enhance their quality of life and those they care for.
Caring for someone with Huntington disease (HD) requires a fine balance between the responsibilities related to HD and the responsibilities of keeping sight of who you are as a person. In speaking with caregivers, several synonyms could describe caregivers: go-getters, advocates, politicians, nurses aids, HD specialists, case managers and angels, to name a few.
John Hickson was the first caregiver panelist to speak about his experience caring for his wife Sylvia who, although at the advanced stages of the disease, continues to reside at home. John said, Caring and being an advocate for my wife requires caring skills, common sense, management skills, people skills, commitment, dedication and personal sacrifices, knowing all along that I will lose the final battle. But by maintaining focus on the small victories, Ive made it through so far. Its not easy to deal with; to me its a duty.
To help him take care of Sylvia, John is getting help from both government-funded home care and private home care. Although hes retired, he acknowledges that it doesnt always feel like it. Caring for someone with HD is a full-time job. Home care services have allowed John to get respite so he could take time for himself, connecting with others or just being alone. To him, this is necessary to be able to find some balance. He also finds having other caregivers involved provide him with different perspectives, which make problem solving much easier.
What John wanted other caregivers to remember was that they are not alone and what they are doing is beyond what most can imagine. Acknowledging that gives you the right and obligation to take care of yourself mentally and physically. If you dont, how is that caring with commitment and compassion?
Our second caregiver panelist, Don Forsey cares for his wife Joan who was diagnosed in 1997. Joan is still able to carry out the routine household functions but experiences some difficulties emotionally and coping effectively with new situations.
Don shared with everyone that he first realized he was losing sight of himself when it was becoming increasingly difficult to work through situations at home. He turned to professionals from the HD clinic in the community to help him through this. Unanimously they informed him that he needed to take better care of himself as he was assuming increasing caregiver responsibilities. Don took the guidance seriously and began taking weekly breaks where he would do things for himself. Realizing that physical and mental health are important he makes a point to have his annual medical check-up and schedules bi-monthly appointments with his psychiatrist. Don finds it helps him cope better when he can spend one-on-one time with someone like his psychiatrist.
Don highlighted that one of the struggles in trying to maintain balance is the feeling of guilt. At first, he felt guilty for enjoying himself while Joan was at home. But after some practice, he realized that with a brief respite, he was a better caregiver and the quality of care he gave Joan improved. Dons take-home message was, By achieving the proper balance, you will be more committed and better prepared to carry out your role as a caregiver with commitment and compassion.
Julie wrapped up the session by using the following analogy:
Do you take better care of your car than your body?
Do you drive your car on empty?
If your car needs new tires to make it safer and more effective, do you change them?
Do you expect your car to float?
If you inherit your brothers boat and your vehicle doesnt have the proper tools to pull it, do you get them installed?
Caregivers, gas up your car regularly, make sure you have proper support to carry any precious cargo you may have and most of all do not lose sight of yourself!
Many people provide unpaid help and support to someone else, usually a family member who has a disability or serious health program. People who take on this role are often called carers. Being a carer often involves talking to doctors about the persons health care and medicines, and obtaining, managing and giving them their medicines. This can be a huge responsibility, so its useful to know a few things about managing medicines, and where to get information and advice.
Tips It helps if you know about the persons medicines, and why they need to take them. So, find a doctor and pharmacist whom you feel comfortable talking with and asking such questions of. Also make sure each of the persons health professionals are aware of your role in managing their medicines, and see you as part of the team.
Write down your questions, and take the list with you when you see the persons doctor or pharmacist, so you dont forget anything. You might like to write down the answers too, or get them to do it for you.
Questions to ask include:
Keeping a list of the persons medicines to take with you whenever you accompany them to their health professionals may save you a lot of time and confusion. The Medimate booklet contains a form for listing medicines.
Keeping a diary of the persons problems, including any suspected side effects, will make it easier for you to tell the doctor about them.
Medicines, including medicines from pharmacies and health food shops, can interact with each other, and have unintended effects. If possible, buy all the persons medicines from one pharmacy to make it easier to pick up any possible interactions between medicines. Always read the medicines label and accompanying leaflets carefully, and seek advice from your doctor or pharmacist if you have any doubts. If you need more information about a prescription medicine, ask your pharmacist for the medicines Consumer Medicine Information (CMI) leaflet. CMI leaflets are also available from www.nps.org.au/consumers
If the person takes several medicines, talk to their doctor about having a pharmacist come to their home to do a Home Medicines Review. And last but not least, dont forget about your needs, including your health needs. The principles discussed above apply equally to you!
The use of material published by Carers Australia is gratefully acknowledged.
Reprinted:Medicines Talk, Information for Consumers and Consumer Groups No. 12, Summer 2004.
Community Assistance We have received, and gratefully acknowledge major financial assistance from the following donors:
Colmat Pty. Ltd.
Throughout the year the Association is fortunate to receive donations from people or groups who take our cause on board and raise funds for us in a variety of ways - eg craft, raffles, recycled toys. In recent times we have received support from the following people:
Mr & Mrs D & F Craig sale of recycled toys The Sew n Sews sale of craft
Upcoming Fundraising Events
Sausage Sizzle at Bunnings, Rocklea Sunday 6th February. Bunnings at Rocklea have provided us with this opportunity to raise funds; a great start to our fundraising for the year. Arrangements are in hand, and we will just cross our fingers for fine weather.
Movie Night Friday, 11th March. Please contact Barb at the office for tickets.
National HD Awareness Day Morning/Afternoon Tea - Friday 20th May.
If you are interested in hosting a Morning/Afternoon Tea please contact the HD Office for more details. We can provide you with an invitation to attend your Morning Tea for distribution to your friends/work colleagues and also some pamphlets on HD and the Association. This is a great opportunity to support National HD Awareness Day. In anticipating a good response, we would need some feedback from you by early April, so that the necessary arrangements can be put in place.
Can you support our Cork Recycling Fundraising Program?
For several years now a regular supply of used wine corks turn up at the HD Centre for sorting and sale to a company in Brisbane that remanufactures the cork. Products such as gasket kits for motor vehicles; horse-float mats; StandEasy mats; cricket ball inners and a range of safety flooring all incorporate corks recycled through this fundraising program.
Many of our readers are assisting our efforts by contacting restaurants and clubs in their local area seeking their support. If you are interested in assisting with this fundraising activity, and live in the south-east corner, please contact the HD Office.
Barry, our volunteer cork sorter, carefully goes through each bag of corks detecting and discarding stray plastic corks and other interesting objects before bagging them for delivery to the remanufacturing company. Hundreds of corks must be sorted in any one month! Thank you Barry for your efforts.