Dr Oliver Quarrell is compiling the 3rd edition of HD facts. This book is designed to give information to families and carers and is published by Oxford University Press.
Are you able to write up to 500 words on one of these topics to be included as a perspective or experience of a patient, carer, or someone at risk? There will not be a payment for the entry but your contribution can be acknowledged if you wish.
Please send your up to 500 words to HD.firstname.lastname@example.org
Dr Quarrell cannot guarantee that every entry will be used but the idea is to publish a perspective from families as part of the book. If a lot of entries are received then Dr Quarrell will write to you and ask if they can be published separately on a website.
Thank you for your contribution.
The Board of Huntington’s NSW ACT is very pleased to announce the appointment of Lewis Kaplan as Executive Officer to lead our team from 4 February 2019.
Lewis is replacing our long-term Executive Officer, Robyn Kapp, who is retiring.
Lewis brings a wealth of experience across the public and primary health sector. Over 35 years, his previous roles have included national CEO of Diabetes Australia, Executive Director of Australian Red Cross NSW, CEO of Alzheimer’s Australia NSW and Executive Director of Council on the Ageing NSW.
The Board warmly welcomes Lewis and looks forward to working with him as we serve the Huntington’s community across NSW and ACT.
Brian Rumbold, Chairman
It’s a time of huge developments in the field of huntingtin-lowering drugs, which aim to reduce production of the huntingtin protein that causes Huntington’s disease. At the European Huntington’s Disease Network (EHDN) meeting this past week, Roche announced firm details of the first ever pivotal study of a huntingtin lowering drug – RG6042, which you might know better as Ionis-HTTRx. So what do we know about the trial? Read more here https://en.hdbuzz.net/263
Use of Genetic Information in Insurance Underwriting
You are invited to participate in a short 15 to 20-minute anonymous online survey about your experiences and attitudes concerning use of genetic information in health, life and travel insurance in Australia.
You can participate if you are aged 18 years or over, have a family history of a genetic condition, and were asymptomatic at the time of your experience.
If you are interested in participating, please go to: https://www.surveymonkey.com/r/insurance18 Here, you will be provided with a participant information sheet with details about the research study. For further questions, please contact the student researcher, Brenely Vargas Murillo at email@example.com.
On Monday, 11th December, 2017 Huntington’s disease was back in the international spotlight – the last time the disease hit the headlines was when the gene was discovered in 1993. Social media has been buzzing with news of a research breakthrough. A study showed that a drug, Ionis-HTTRx, could lower the amount of the mutant protein “huntingtin” (mHTT) in individuals with early stage HD. This is important because toxic mHTT is believed to be part of the mechanism leading to HD symptoms.
When testing new drugs, the very first thing we need to know is that they are safe - and this study found no evidence that patients experienced unpleasant or dangerous side-effects or other adverse events.
There is no doubt that this is extremely exciting news. This first study of Ionis-HTTRx, which began in July, 2015, had 46 participants, recruited from 9 centres in Great Britain, Canada and Germany. The trial was not designed to address the question of whether the drug has an effect on the onset or the course of the disease, and a further, larger trial will be needed to demonstrate this.
The press release issued by the company which ran the study, Ionis Pharmaceuticals, reported that the next phase of research will be handled by the pharmaceutical company Roche. The only information provided by Roche about the next stage of research is that “future studies for the program will be conducted globally” and “information will be provided as soon as possible.”
Like others around the world, we are eagerly awaiting announcements about the next stage of the study. Until then, there is nowhere in Australia, or anywhere else in the world, where one can join an Ionis-HTTRx study.
The Westmead HD Service and Huntington’s NSW & ACT work extremely closely together. We will ensure that any news about new trials will be distributed immediately through the Association’s website, Facebook page or directly through emails (if you are a member or client of the Association).
Watch this space!
Dr Clement Loy Robyn Kapp OAM
Director & Neurologist Executive Officer
HD Service HNSW & ACT
Westmead Hospital www.huntingtonsnsw.org.au
For a good, reliable source of information about this study, including an informative Q&A about the research and most HD research results, we suggest you look at the HD-Buzz website: https://en.hdbuzz.net
If you or anyone you know have any concerns about HD, you can make an appointment to attend the Westmead Hospital HD clinic. To discuss what a clinic visit involves, you can ring the Outreach Team 8890 9960, or to make an appointment ring 8890 6544.
If you are interested in participating in research, you may also want to consider the global Enroll-HD study (https://www.enroll-hd.org) This is an observational study (no drug treatment) for HD families. You can find out more about Enroll-HD by contacting the researchers at Westmead Hospital, on 8890 6310 or 0438 604 719 (Mondays and Thursdays).
In an announcement likely to stand as one of the biggest breakthroughs in Huntington's disease since the discovery of the HD gene in 1993, Ionis and Roche have announced that the first human trial of a huntingtin-lowering drug, IONIS-HTTRx, demonstartes that it reduces mutant huntingtin in the nervous system, and is safe and well-tolerated. More information can be found at HDBuzz
Westmead Fertility Centre (WFC) which is affiliated with Westmead Hospital and the University of Sydney offers PGD at a more affordable cost for those who would like to have an HD-free child.
The following is an approximate guide to the type of treatment costs, which are all inclusive, you can expect to pay.
An IVF cycle costs between $1,735–$5,085 at WFC but after Medicare refunds, out-of-pocket expenses are usually between $317–$1,586 for a first cycle. Additional Health Fund Insurance is not required to have treatment at WFC.
In addition, PGD charges billed by the Genetics Laboratory range from $2,250 – $3,000.
Huntington’s NSW is excited to announce that the Enroll-HD study is now up and running at Westmead Hospital. This international study presents an opportunity for all family members affected by HD to be involved in research. If you are interested in participating, contact the study coordinator, Therese Alting, telephone 9845 6310 or 0438 604 719 or email firstname.lastname@example.org. This is an observational study, and not a drug trial. For more information about the study visit www.enroll-hd.org