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Newsletter Dec 2004
In this Issue
- President's Message
- GDP Flyer
- Welfare Update & National Meeting
- Living Cell Technology
- Nancys Choice
- Predictive Testing: Should you tell?
- Francis Crick, DNA Pioneer dies
- Bringing a Drug to Market in HD
- Getting a Good Nights sleep
- Fundraising
President's Message
Dear Friends
Its Christmas again where has the year gone and what a busy year it has been for the Association, the staff and our volunteers.
We have enjoyed a good year and I am taking this opportunity to sincerely thank everyone who has contributed to our success, especially our dedicated staff who give their time and effort far in excess of the hours expected. Thank you to Gwen and Jeff (Welfare) Iris and Theressa (Day Respite) and also Barb and Helen (Administration).
The staff is backed up by a wonderful team of volunteers and I extend to them a special thank you for their unselfish efforts in supporting the Family Support Groups throughout the State; the Day Respite Program in Annerley; fundraising activities and administration duties. We cannot maintain the services we offer without your valuable contribution. There is always room for extra volunteers and we welcome more assistance if anyone is able to spare their time.
The Family Support Groups throughout the State are doing a wonderful job for which we are very grateful. Thank you sincerely.
It is also timely to sincerely thank those generous financial supporters whose contributions make such a difference to our members.
Our Committee members have given freely of their time during the year and their individual contributions and support keep the wheels turning. I thank them for their support.
I would like to wish you all a very joyous festive season and Happy Christmas and I look forward to a wonderful New Year in 2005.
Ray Bellert, President
We would like to draw your attention to the flyer attached to this Newsletter. The flyer outlines a National Research Study currently underway. The study is GDP (Genetic Discrimination Project) and is interested in members experiences relating to genetic information, family history or genetic testing that they would want to tell the researchers about.
If you would like to contribute/participate in this important study you can call toll free 1800 554000 to request a questionnaire or you can download a copy from www.gdproject.org If you have any queries call the toll free number or contact Dr. Kristine Barlow Stewart on (02)9926 7324
or email: [email protected]
Welfare Update
Jeff and I have been travelling extensively both in regional Queensland and Interstate since our last Newsletter. Jeff has visited Bundaberg via Kilcoy, Goomeri, Gin Gin and returned via Maryborough and Hervey Bay and I have worked in Cairns and surrounding district, Townsville and Charters Towers and earlier in Rockhampton and Mackay. We view these visits as an essential part of the Queensland Welfare Service and I would like to thank those of you who extend such a warm welcome to us when we are in your area.
Recently I have attended the Annual National HD Meeting in Melbourne. Delegates from all Australian States attended and we addressed issues such as:
Research
Residential accommodation for younger people with HD
Sharing of informationNational HD Awareness Day (20th May, 2005)
Election of officer bearers and delegates to the World Congress on HD to be held in Manchester 10th 13th September, 2005. Two delegates represent Australia.
I also attended an HD Research Symposium in Melbourne which was held the day before the National Meeting. Topics arising included:
Gait disorders in HD
Neural tissue storage via a network of brain banks
Activity levels and age of onset of HD
Various aspects of Predictive Testing
There are a number of people researching HD across Australia and Victoria can feel justifiably proud of the contribution they are making.
I would like to thank the Victorian HD Association for hosting both the National Meeting and the Research Symposium and the Queensland Association for making it possible for me to attend.
On behalf of Jeff and myself, I would like to wish you all the compliments of the season. Kindest regards,
Gwen Pratten, Welfare Coordinator
The decision to hold the 2004 National Annual General Meeting in Melbourne
also enabled members of the National Body to attend the Huntington Research Symposium, presented by the Huntingtons Research Group Victoria and the AHDA (Victoria). I had the privilege of attending both of these meetings and in my haste to share my experiences, I have put pen to paper while on my return plane journey from Melbourne to Perth.
It is impossible to put into a few words the optimism and appreciation I felt at the Symposium, while listening to the many researchers and professionals who are so committed to making the lives of HD families more manageable on a day to day basis while we live in the hope of a cure.
The opportunity for the National Body to meet on an annual basis allows a face to face exchange of the years events in each State and I have the greatest admiration for their dedication to Huntingtons families throughout Australia. My role as National Chair in 2003 was the first time this position had been held by a community person, not involved with an Association on a day to day basis. I would therefore like to thank Robyn Kapp (NSW), Anne Middleton (SA & NT), Gwen Pratten (Qld), Joyce Abblitt (Tas), Jill Hitchcock (Vic) and Del Weston (WA) for their ongoing support and friendship throughout the year, which has given me a greater insight into the roles of each Association. Special thanks to Jill in Victoria for all her hard work and hospitality in making our stay in Melbourne so special. Del (WA) has recently resigned from her role as Executive Officer to take up another position, but we thank her for her commitment to the Association and Huntington Community over the past 6 years and wish her well for the future.
As a carer and the mother of two gene positive daughters I know all too well the enormous struggles faced by Huntingtons families, but I have met so many people both in the HD and wider community whose courage, strength and sense of humour, all help to make our days brighter. I have also learnt not to be afraid to ask for help and can only say sooner is better than later.
My role as National Chair will continue for a further year and my hope is that we can all share in our Huntingtons experiences and remember that we are not alone. My warmest wishes -
Ann Jones December 2004
Living Cells Technology
In response to a segment on Channel 7 news on Friday 5th of November, 2004, AHDA (Vic.) Inc. have been in contact with the company involved in the research project discussed, and have compiled some information regarding the research and its implications for people affected by Huntington Disease.
What are the details of the research that was discussed in the news story?
What did the trial involve?
The trial was conducted using a fairly standard rat model of Huntington's (The rats have quinolinic acid injected into the striatum (a part of the brain), which results in the rats displaying pathology and clinical presentation that mimics HD).
The rats were injected with either rat or piglet choroid plexus cell clusters (see attached abstract for details re: Choroid Plexus) encapsulated in alginate into the area immediately prior to inducing the lesions.
What were the results?
A remarkable prevention of the behavioural, pathological and clinical changes around 80%. The animals recovered extremely well.
Where to from here?
The trials are being repeated in non-human primates first, using piglet choroid plexus - these should be completed by mid February 2005.
This is a necessary step to applying for regulatory approvals in order to begin Phase 1 human trials. How long these approvals take is uncertain. There are strong non-scientific prejudices against the use of animal cells, which may be difficult to overcome. In Australia we hope to hear from the regulatory body in December, as to whether or not they will be able to process an application.
Further research is also required to determine how long the treatment effect will last. The therapeutic cells are very hardy and last a long time (6 months) in artificial conditions (cell culture). The animal experiments that were conducted went for 6 weeks and the restorative effect remained for that time. It now needs to be determined if predictions can be made as to how long the treatment may last.
If the human trials are approved, what will they involve?
At present the trial would involve the injection of a small volume of encapsulated pig choroid plexus cells into the brain striatum of patients who are already experiencing severe symptoms of the disease. A small 'burr hole' would be made in the skull and a needle positioned by stereotactic means. An alternative might be to inject into the ventricles of the brain - this is yet to be determined.
What sort of time-frame are we looking at?
There are two stages. The company will know whether the treatment works or not in the larger (primate) animal model, hopefully by February 2005.
If it works, they will apply to do the human phase 1 study. The company is hopeful that phase 1 could be underway by the middle of 2005 - but this is in the hands of the regulators.
Who is conducting the research?
The research is being conducted by a company called Living Cell Technologies.
This company describes its focus as being on market driven living cell products for the treatment of Huntingtons Disease, haemophilia and insulin-dependent diabetes.
Just type in Entrez PubMed and then search for articles using the authors surname.
(Related publications listed below)
Publications:
C V Borlongan, S J M Skinner, M Geaney, A V Vasconcellos, R B Elliott, D F Emerich Neuroprotection of encapsulated choroids plexus in a rodent model of Huntingtons disease Neuroreport Vol 15 No 15 2004
C.V. Borlongan; S.J.M. Skinner, M. Geaney; R. Elliott; A.V. Vasconcellos; D.F. Emerich. Neuroprotective effects of encapsulated choroid plexus in a rodent model of Huntingtons disease. 34th Annual Meeting, Society for Neuroscience. San Diego, CA, USA Oct 23-7, 2004
Dwaine F. Emerich; Stephen J.M. Skinner; Cesario V. Borlongan; Alfred Vasconcellos The Choroid Plexus in the rise, fall and repair of the brain. In Press (Nov 2004) BioEssays
Borlongan CV, Skinner SJM, Geaney M, Vasconcellos AV, Elliott RB, Emerich DF. CNS grafts of rat choroids plexus protect against cerebral ischemia in adult rats. Neuroreport Vol 15 No19 19 July 2004.
Borlongan CV, Skinner SJM, Geaney M, Elliott R, Vasconcellos AV and Emerich DF. Intracerebral transplants of choroids plexus provide structural and functional neuroprotection in a rodent model of stroke.
Eleventh Annual Conference of the American Society for Neural Transplantation and Repair. Florida, USA May 6-9, 2004.
Borlongan CV, Skinner SJ, Geaney M, Vasconcellos AV, Elliott RB, Emerich DF. Intracerebral Transplantation of Porcine Choroid Plexus Provides Structural and Functional Neuroprotection in a Rodent Model of Stroke. 2004, International Society for transplantation, Vienna, Austria.
Emerich DF, Vasconcellos AV, Elliott RB, Skinner SJ, Borlongan CV. The choroid plexus: function, pathology and therapeutic potential of its transplantation. Expert Opin Biol Ther. 2004 Aug;4(8):1191-1201 *
* Abstract attached
The choroid plexus: function, pathology and therapeutic potential of its transplantation.
Emerich DF, Vasconcellos AV, Elliott RB, Skinner SJ, Borlongan CV.
LCT BioPharma, 766 Laten Knight Rd, Cranston, RI 02921, USA. [email protected]
The choroid plexus (CP) produces cerebrospinal fluid (CSF) and forms the blood-CSF barrier. However, the CP may have additional functions in the CNS beyond these traditional roles. Preclinical and clinical studies in ageing and neurodegeneration demonstrate anatomical and physiological changes in CP, suggesting roles in normal and pathological conditions and potentially endogenous repair processes following trauma. One of the broadest functions of the CP is establishing and maintaining the extracellular milieu throughout the brain and spinal cord, in part by secreting numerous growth factors into the CSF. The endogenous secretion of growth factors raises the possibility that transplantable CP might enable delivery of these molecules to the brain, while avoiding the conventional molecular and genetic alterations associated with modifying cells to secrete selected products. This review describes some of the anatomical and functional changes of CP in ageing and neurodegeneration, and recent demonstrations of the therapeutic potential of transplanted CP for neural trauma.
PMID: 15268655 [PubMed - in process]
Compiled November 10th, 2004
Nancys Choice
US scientist Nancy Wexler helped identify the gene that causes Huntington's, an achievement that led to the genetic test. Earlier this year, she spoke to National Public Radio in New York about her decision not to be tested for HD; despite her mother's contracting the illness.
Huntington's Disease has always hung over Nancy Wexler. Her mother's father had it; her mother's three brothers had it. For a time, Nancy Wexler believed the disease only affected men, but in the late 1960s, she learned that was wrong.
My mother was on jury duty when I was 21, and she was walking across - there's a big diagonal in downtown LA, and so a policeman was watching her, walk across at 8 AM. And he pulled her over and accosted her and said, `Aren't you ashamed of yourself to be drunk so early in the morning?' And my mother was just horrified, because first of all, she wasn't drinking; she doesn't drink. Her world just fell apart because she knew that that's one of the first signs of Huntington's.
The diagnosis of her mothers illness eventually set Nancy Wexler on a career path to study HD. Wexlers office is now piled with papers, folders, research journals and dozens of pictures documenting her field research in Venezuela. She began working in Venezuela because Huntington's Disease is unusually common in the villages along Lake Maracaibo.
All of my life since the age of 21 was completely pushing aside every single barrier I could find in order to develop the test... The research in Venezuela was all about finding the test. It was finding a marker so you could take the test, finding a gene so you could take it. So, it was test, test, test. I want to know. I want to find out. I want to be tested.
Among Wexlers Venezuelan research papers is a photograph showing a clean, freshly painted room. In the room, a nurse is feeding a woman in a wheelchair. The room, once part of a local bar; is now a clinic for Huntington's patients.
Everybody that works there comes from a Huntington's family... The people who clean, the people who are the cooks, everybody has Huntington's in their family. So they all have the first priority. Since the staff are all expecting to get Huntington's and they're caring for their parents in that same place, they say it's very hard to walk in because every time I walk in, I think, `One of these days, it's going to be me.' And so they handle that by saying, `I want that bed. I want that room,'.
This picture - this family really helped us find the gene because there were nine children - seven out of the nine children all got Huntington's disease. So really, this family found the Huntington's disease gene for us. And, bingo, it was like one day you don't have a gene and the next half an hour, you've got the gene. So I love them.
The discovery of the gene was a scientific break-through, but it was also a personal turning point for Nancy Wexler. Soon, there was a genetic test that she and her sister could take that could end the uncertainty about whether a debilitating disease lay in their future. Together with their father, they began to work out the logistics of taking the test.
We discussed how we would send the blood, who we would give the results to. And as we started to talk about it, my father said, `I don't know how I feel about this test. I'm really having a lot of misgivings.' He said, `It's up to you; it's your life, it's your DNA. But for me, it would be tragic if either one or both of you was diagnosed with Huntington's disease, and we need to really think very carefully about what we're doing here.
His words really hit us like a thunderbolt because certainly, my sister and I have thought about Huntington's every day of our life, probably every moment, since 21... But there is a huge, huge mega-difference between thinking about something and... when you actually put yourself in the position of saying, `I am going to open that Pandora's box and find out if my life is over as I know it, as I want it to be'.
And I started to think to myself: `How would I go to Venezuela? How would I see all those people? How would I write? How would I be cheerful?' And it's a very hard place to both put yourself in and keep yourself. And so then we said, `Well, why do we want this, you know? What's on the plus side? Of course, you're very curious. You want to know that you don't have it.
In the end, Wexler and her sister decided not to take the test. The reason, she says, is there's no effective treatment for Huntington's disease; nothing she could do if the test showed she'd get the disease. But Wexler says there was one thing that would have changed her mind: children.
Because my sister and I had both decided - the first thing, in fact, we said when we learned that we were at risk is we weren't going to have children unless we could guarantee that they wouldn't get sick. And both of us... wanted to have children. We had said no to children because of the Huntington's, but suddenly, this other door was opening. And that seemed really the only driving force behind saying yes to being tested.
Neither Wexler nor her sister had children so they never had the predictive test. Until now, Wexler has been reluctant to discuss what she sees as her very private decision not to be tested. She says the increasing push for people to take the predictive test has changed her mind about sharing her story.
I think that there's an increasing push for people to be tested, and people are going to get pushed to get tested for all kinds of reasons. I guess part of what I would like to say is that people should not feel pressured to be tested. You can't take back the information - that is, it can be massively damaging information. It can be illuminating and it can be productive. People use it that way; I've seen people use it that way. I'm saying try to know your own inner self as much as you possibly can, because that should be the guiding force and not some outside job or outside boyfriend or father or Ma or doctor, who really push a lot, or public, impinging on because you're the one that has to live with that information and nobody else does.
Acknowledgement: This article was adapted from an interview originally broadcast on the USA National Public Radios Weekend All Things Considered program on May 16, 2004.
Reprinted: Gateway AHDA (NSW) Inc. September/October, 2004.
Predictive Testing:
Should you tell?
As a health professional I shared the fact that I was having predictive testing with my colleagues. I experienced a good level of support while going through the process and waiting for the results. Not to have my colleagues know why I was so fragile would have been very difficult since the process took some time, which added to the overall stress. I did not keep the gene positive results from my colleagues. Although I would have preferred to have only told less people, it is hard to keep secrets in a small working environment.
For a while nothing changed. I had a gene, not a disease and I thought my professional colleagues respected that. However after a while I had a few personal health issues not related to HD and was not myself. My trusted colleagues decided I now had HD. I saw a neurologist and had some psychology tests done. All proved to be OK. Us gene positive mob have the same risk as the rest of the world in having health problems!! It seems since then that any problem I have, someone relates it to my HD. I wonder how any of them with a gene positive test for heart disease would appreciate me treating them as a cardiac cripple, while they were asymptomatic?
What I am saying is if I could do it all over I would not have told anyone in my workplace that I was having testing done. It was a good support initially but the long-term results have been very traumatic for me. I feel I have to be covering my back all the time, being very sensible and never getting upset, in order to prevent being judged as an HD patient.
I am glad to hear of workplace support for people who are symptomatic. I would have thought working in the area of health care there would be an understanding that a gene positive test does not mean one actually has HD.
Name Supplied
Acknowledgement: Huntingtons News,
The Quarterly Newsletter of the Huntingtons Disease Associations of New Zealand,
Issue 86, September 2004.
Reprinted: Gateway AHDA (NSW) Inc. September/October, 2004.
Francis Crick, DNA Pioneer Dies
Francis Crick, who with James D Watson discovered the double helix structure of the DNA molecule in 1953 - one of the 20th century's most celebrated scientific breakthroughs - died on 28th July 2004 in a San Diego hospital. He was 88 and had colon cancer.
The importance of their discovery can hardly be overstated. It all but created the field now known as molecular biology, and led to an understanding of the genetic basis of diseases, which has revolutionized the search for drugs and other treatments. It also was the making of Dr Crick, who at the time was still pursuing his doctorate at Cambridge University. He acknowledged that personal importance by later naming his house in England The Golden Helix.
"I will always remember Francis for his extraordinarily focused intelligence and for the many ways he showed me kindness and developed my self-confidence," Watson said yesterday in a statement from his office in Cold Spring Harbor Laboratory in New York. "For two years I was almost a family member, the much-younger brother prone to intellectually stray... I always looked forward to being with him and speaking to him, up until the moment of his death."
Watson and Dr Crick received the 1962 Nobel Prize in Physiology or Medicine for discovering that the structure of DNA was a double helix. In making their discovery, Dr Crick and Watson drew upon the research of Maurice Wilkins, who shared the Nobel, and his colleague, Rosalind Franklin, who died in 1958.
Dr Crick always downplayed the significance of his achievement, saying in his 1988 memoir that "it is the molecule that has the glamour, not the scientists."
But the scientists who followed him never believed that.
"Francis Crick was a connection to that founding generation of molecular biologists who changed the world, and in terms of pure intellect he was the most extraordinary of them," said Eric S Lander, director of the Cambridge-based Broad Institute, who was instrumental in mapping the human genome.
Publicly, Dr Crick was less well known than Watson, who had a gaudier personality. Not that Dr Crick was a wallflower.
When at Cambridge, he and his wife, Odile (Speed) Crick, were famous for the liveliness of their parties. He was also renowned in scientific circles for his blunt honesty, puckish wit, and considerable self-assurance. As Watson wrote in the famous first sentence of his memoir, "The Double Helix" (1968): I have never seen Francis Crick in a modest mood."
Watson's greater fame was even more attributable to "The Double Helix," which was an immediate best seller and soon attained classic status. Dr Crick liked to joke how often he was complimented on his authorship of the book. Indeed, his and Watson's names were joined in the public mind. Even some colleagues lumped them together. In 1955, Watson was visiting his old haunts at Cambridge. Dr Crick introduced him to the new head of the university's Cavendish Laboratory. "Watson?" he said to Dr Crick. "I thought your name was Watson-Crick."
Francis Harry Compton Crick was born on June 8, 1916, in Northampton, England, the son of Harry Crick, a footwear manufacturer, and Anne Elizabeth (Wilkins) Crick. The family moved to London when Dr Crick was a boy.
Having demonstrated an early interest in science, Dr Crick studied physics at University College London. He earned his bachelor's degree in 1937 and began doing graduate work on the viscosity of water. He later described this as "the dullest problem imaginable," but it led to his working for the British Admiralty during World War II, developing naval mines.
With the war over, Dr Crick found himself at a crossroads, bored with physics and intrigued by what he called "the chemical physics of biology." Pondering the advisability of switching to biological research, he consulted various friends. "I've known a lot of people more stupid than you who've made a success of it," one told him.
Thus encouraged, Dr Crick went to Cambridge to work on his doctorate. He met Watson there in 1951. A certain youthful arrogance, a ruthlessness, and an impatience with sloppy thinking came naturally to both of us," Dr Crick later wrote. They almost immediately began their pursuit of what Watson once called "the most golden of molecules. Drawing on X-ray diffraction studies by Wilkins and Franklin, as well as work by the US chemist Linus Pauling, Dr Crick and Watson spent the better part of two years working on models of the DNA molecule. At one point, Dr Crick was forbidden to continue work on DNA (he was supposed to be researching proteins). When they finally hit upon the double helix as DNA's structure, Odile Crick was initially unimpressed.
"You were always coming home and saying things like that," she later explained, "so naturally I thought nothing of it. Dr Crick, who received his doctorate in 1954, later became a central figure in the study of
protein synthesis and genetic coding. Along with Sydney Brenner, he showed how DNA provides instructions to make amino acids and then proteins, the basic building blocks of life.
This itself was a profound insight, but he also showed the essence of how these instructions work: DNA can be thought of as a long string of letters, and every three letters is like a word that specifies a particular amino acid, he and Brenner showed. Dr Crick also theorized that molecules called "transfer" RNA play a crucial role in this process - a theory that was later proven correct.
"Not only did he discover with Jim Watson the double-helical structure of DNA, but Francis Crick intuited the mechanism by which the genetic code is written and read out," Lander said. "Those three things - the double helix, [RNA] molecules, and the triplet nature of the genetic code - I think of as the greatest intellectual hat trick in the history of biology, and they emerged from pure insight with very little data for guidance."
Dr Crick held several visiting professorships at universities in the United States, including Harvard and the Rockefeller Institute, while maintaining his affiliation with Cambridge. In 1976, he moved to the Salk Institute for Biological Studies in La Jolla, California where the focus of his work became brain research. He continued doing theoretical work until shortly before his death.
Lander recalled the experience of working with Dr Crick at Salk in the early 1980s.
"What I most remember was his pure joy in ideas. He just took such pleasure in thinking about hard problems," Lander said. "He was the most playful 70-year-old you might imagine, and there was the sense he was like that at every age."
Dr Crick also made headlines in 1981 with his "panspermia" hypothesis, which he propounded in his book (with Leslie Orgel) "Life Itself: Its Origin and Nature." Dr Crick suggested that life on Earth began when an unmanned spacecraft from another world crashed here billions of years ago, depositing microorganisms.
Dr Crick was also author of "Of Molecules and Men" (1966) and "The Astonishing Hypothesis: Scientific Search for the Soul" (1994). The latter book offers Dr Crick's thoughts on the brain and the nature of consciousness.
In it, he announces, "You, your joys and your sorrows, your memories and your ambitions, your sense of personal identity and free will, are in fact no more than the behavior of a vast assembly of nerve cells and their associated molecules."
Acknowledgements: Material from the Associated Press was used in this obituary by Mark Feeney of the Globe Newspaper Company.
Reprinted from the newsletter of the Association of Genetic Support of Australasia, Issue 70, August 2004.
Bringing a Drug to Market in Huntington Disease
By Isla Horvath, Executive Director and CEO, Huntington Society of Canada and Dr Lynn Raymond, HSC Research Council Member, Department of Psychiatry, Division of Neuroscience and Brain Research Centre, University of British Columbia, Canada
Now is an extremely exciting time in the Huntington's research world - new discoveries are made on a weekly basis from all corners of the world, each one providing a better understanding of HD and bringing us a bit closer to a treatment that will have an impact on Huntington disease.
Nowhere is this excitement more visible than in the area of clinical research. We continually hear about prospective compounds that may be used eventually for the treatment of HD. It's extremely encouraging for those in the Huntington's community.
But what exactly is involved in clinical research? How long after a drug is identified as a potential therapeutic compound can we actually expect an announcement that a treatment has been developed? Dr. Lynn Raymond, a neurologist at the University of British Columbia, is frequently asked this question by her patients who participate in an HD clinic. Here's the information she provides on bringing a drug to market in Huntington Disease:
There are basically six steps involved in the clinical trial process:
Step 1 - Preclinical:
Data is used to identify candidate drugs or nutritional supplements for testing in humans. This data is collected from in vitro research (neurons from the animal brain grown in culture dishes or test tube experiments); and through testing in animal models, like mice and fruit flies.Step 2 - Moving to clinical trials:
Based on the results of experiments in step 1, we generate a consensus among the research community (basic scientists and clinical researchers) as to which drugs are the best candidates to bring forward to human clinical trials. This is the focus of the SET- HD project, mentioned in this issue of Gateway.Step 3 - Tolerability test:
The first phase is to test the drug in non-HD-affected volunteers to look for side effects. If the drug is already on the market for other purposes, this step can be bypassed.Step 4 - Short trial in subjects with early HD:
This trial usually takes several weeks and involves a small number of participants - usually less than 60 people. The drug is tested against a placebo - a "sugar pill" with no medicinal properties - and the test is both randomized and double-blind. That means that neither the researchers nor the participants know who is taking the actual drug and who is taking the placebo. The main outcome of this step is to measure side effects, including behavioural and chemical side effects. Change in symptoms over this short period may also be measured.Step 5- Medium-length "futility" study in subjects with early HD:
This step takes about 18 months, and involves a medium number of subjects (usually about 200). Again, the study involves both the actual drug and a placebo, and is both randomized and double-blind. An outcome measure is the rate of progression, and there are two possibilities for the outcome: I) The drug has a large effect (either to increase or decrease the rate of progression) and the result is statistically significant - in this case, a decision can be made regarding the drug's usefulness as a therapy in HD; or 2) There is a trend toward change in rate of progression that is not statistically significant because of the small effect of the drug in a relatively low sample size and short trial. Drugs that give the second result may move forward to step 6.Step 6 - Full-length efficacy trial in subjects with early HD:
This trial can take up to 3-5 years. A large number of subjects are involved (at least 500) and again, the study involves both the drug and a placebo, and is randomized and double-blind. The study is designed to detect a statistically significant, relatively small effect of the drug to slow the progression of HD.
There are other key points to understand regarding the search for a treatment for HD:
The first round of drug testing is always done in symptomatic individuals, because we have no markers yet to follow in asymptomatic, gene-positive individuals to judge the efficacy of a drug. PREDICT-HD is underway to determine markers that will allow drug testing to delay onset of disease in this population.
Drug testing is in symptomatic individuals in the early stages of HD because in later stages, progression is no longer linear with time.
Randomized, placebo vs. drug trial is the only way to be sure a drug is actually effective, because taking a "sugar pill" and being closely monitored by HD experts can produce physiological effects that result in improved clinical status.
Steps 4 - 6 require large amounts of money, and raising funds for these trials ( e.g., preparing a proposal to submit to a funding agency, undergoing the review process, making revisions to the protocol, etc. ) can take a year or two.
Researchers around the world have expressed their sincere appreciation for the willingness of the HD community to provide support, both through financial contributions to enable trials to occur, and through participation in clinical trials. By working together, we WILL find a treatment that has an impact on Huntington disease.
Acknowledgement: Horizon, No 113, Summer 2004, Huntington Society of Canada.
Reprinted: Gateway AHDA (NSW) Inc. July/August, 2004.
Getting a good nights sleep
Most people have difficulty getting a good nights sleep at some stage in their lives. People often look to sleeping tablets to help them sleep. However, it is now realised that using these medicines for more than a few days at a time can cause major problems. It is usually better to deal with sleep difficulties using non-drug methods.
Sleeping tablets
Sleeping tablets disturb the natural rhythm of your sleep, so the sleep is not as deep or restful. They also cause side effects, such as drowsiness, dizziness, memory loss and poor concentration. The side effects often continue into the next day, particularly in seniors, and sometimes make people more likely to have falls and other problems.
Sleeping tablets can be addictive, and coming off them becomes harder the longer you take them. In addition, most people develop a tolerance to them after a few days, so they need increasingly larger doses to make them sleep.
Talk to your GP if you have been taking sleeping tablets for a while and want to come off them.
Non-drug tips
In the long term, overcoming sleep difficulties using non-drug methods is usually more successful than using sleeping tablets. The tips below have helped many people overcome insomnia, so it might be worthwhile trying some of them if you are having difficulty sleeping.
During the day
Maintain a regular routine for meals, chores and activities.
Spend 30-60 minutes outdoors in the late afternoon or early evening. Regular exposure to sunlight at this time will help you become sleepy in the late evening.
Avoid having a daytime nap.
Be as active as possible during the day.
In the evening
Do 20-30 minutes of light exercise, such as walking or stretching, early in the evening. Exercise tends to make you sleep more deeply 4-6 hours later.
Avoid drinks containing caffeine, such as coffee, tea, cola and cocoa, for at least 5 hours before bedtime. Caffeine makes it difficult to get to sleep and stay asleep.
Avoid alcohol near bedtime. Alcohol will help you get to sleep more quickly, but it will also make your sleep lighter and more disturbed and you will wake up more easily.
Relax and get ready for sleep by winding down with an hour of television, reading or listening to music before bedtime.
Switch off from the days activities and problems. If necessary, make a list of all the things on your mind, and decide to deal with them the next day.
If you have trouble switching off at night, learn a relaxation technique and practice it before using it to help you get to sleep.
Make sure your bed and bedroom are not too hot nor too cold.
At bedtime
Develop a bedtime routine (warm bath, snack, clean teeth, etc) and carry it out every night. Your body will learn to recognise that it is time for sleep.
Go to bed only when you feel sleepy.
Dont read or watch television in your bedroom.
Enjoy relaxing in bed even if you dont fall asleep immediately.
If you cant fall asleep or get back to sleep, think of pleasant things.
Get up at the same time each morning.
Acknowledgement: Medicines Talk, No.. 11 Information for Consumers and Consumer Groups
FUNDRAISING
The QUT Staff Community Welfare Fund recently donated $500.00 to the Association for the purchase of white boards for use at the HD Centre. This Group raises funds from staff by way of voluntary contributions or other fundraising activities, and disperses these to appropriate charitable organisations.
We appreciate their generosity and thank the staff for their ongoing support of the Association.
Community Assistance We have received, and gratefully acknowledge major financial assistance from the following donors:
NA & P Barnes
JR Bolton
RJ Bowhay
AA Harding Smith
LV & JM Hartkopf
JS Hildreth
BE Litow
I McAlister
IR McDonald
C & H Murray
J & G Philp
GR Phillips
L Prommitz
A Saffy
GM Spencer
The Deadly Australians
The following fundraising activities held in recent months were well supported and raised much needed funds for the Association. Our thanks to everyone involved.
The Sausage Sizzle at Browns Plains raised $775.00.
The Melbourne Cup Calcutta Another entertaining evening raising approx. $800.00.
Cookie Drive Our most successful yet - $810.00. Thanks to everyone for supporting this fundraiser and especially our friends from the North Coast region.
Rotary Club of Acacia Ridge Art Union As the Newsletter goes to print this Art Union is closing. If all tickets distributed are sold, the Association will receive $400.00 from ticket sales.
Please check the Febuary edition of the Newsletter for upcoming fundraising events.
Looking for a Computer?
But dont think you can afford one&.
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A Green PC is an affordable, high-quality second-hand computer that has been fully refurbished by skilled technicians, many of whom were formerly long term unemployed. Each PC is ready for Internet use and has a range of home office software already installed. Prices start from $225.00.
The only qualification for an individual or family to access a Green PC computer is that they be holders of current Health Care Cards or are able to verify their low income status.
Call Green PC by phone (07)3255 8300 for information.
Christmas Greetings
Wishing our readers
a joyful festive season
and a Happy New Year.