Members of the HDYO NZ team with guest speakers. From Left to Right: Malvindar, Leanne, Charles Sabine, Professor Julie Stout, Daniel, Sam
The New Zealand National Huntington’s disease Conference, hosted by the Huntington’s Disease Association of Auckland (HDAA), was held on the 4th and 5th of May. The conference brings together HD researchers, clinicians, carers, patients and their families from around the country.
In this blog post we will cover some of the most popular talks from the conference, however if you want to hear take home messages from all the talks check out our collection of live tweets from the conference here: http://wke.lt/w/s/u7l7Q
Charles Sabine - My Story and HDdennomore
Charles Sabine, a former television journalist and war correspondent for NBC News, was a special guest this year. Charles, who is positive for the mutant HD gene along with his brother who is in final stages of the disease, is now an advocate for HD patients and their families.
Charles gave us two amazing talks, both highlights for everyone at the conference. On day 1 Charles spoke about his life, and his personal HD journey. On day 2 Charles shared with us snippets of a documentary he is making about HDdenomore (Hidden No More) and Pope Francis’ audience with the HD community. The idea behind the HDdennomore movement is to raise awareness of HD, lift the stigma surrounding the disease, and improve the lives of people living with HD (Charles Sabine talking about HDdennomore: https://www.youtube.com/watch?v=nsGF0OYi-ac).
Charles was inspired to start HDdennomore after witnessing the terrible conditions that HD patients and their families were living within South America. In particular, he told us the stories of two young people; a young girl suffering from Juvenile HD who has no one to play with because the other children are afraid of ‘catching’ HD, and a young boy who is teased by his peers because his dad suffers from HD.
The original plan for the event at the Vatican was to take a couple of HD patients and a banner saying Hidden No More, and get a photo of Pope Francis holding the banner. Well..the event ending up being so much more! On May 18th 2017, HD patients, their families, scientists, and clinicians from over 20 different countries around the world attended the event at the Vatican. AND even better than holding the banner, the Pope said the words “Hidden No More”!!!
Keep an eye out for Charles’ documentary coming out later this year titled ‘Dancing at the Vatican’.
Professor Julie Stout - Clinical trials of therapies for HD
Julie Stout is a Professor at Monash University in Melbourne, Australia. Her research focuses are psychology, cognition (thinking), and assessing cognition in patients with movement disorders (i.e Huntington’s disease).
Professor Stout gave us an update on the latest clinical trials for HD therapies and explained how some of these therapies work. Firstly, the trial that has received a lot of media coverage, HTT gene silencing using antisense oligonucleotides (ASOs) conducted by IONIS Pharmaceuticals. What researchers have found so far is that the treatment is safe in humans (doesn’t have any major negative side effects), it reduces the amount of mutant huntingtin protein in the cerebrospinal fluid (CSF), and there is an association between the reduction of mutant huntingtin in the CSF and a potential improvement in clinical symptoms.
The image below (adapted from Antisense and Sensibility, Dove 2002) shows the idea behind antisense oligonucleotide drugs. A gene (DNA) creates a messenger from of itself (mRNA), and this messenger tells the cell what protein to make. In HD, the mutant HD gene makes a messenger with the wrong message, meaning the protein that is made from this message is also not right (mutant protein), and it forms aggregates. Traditional therapies have aimed to target the mutant protein, and this hasn’t been very successful. Gene silencing therapy on the other hand, works by targeting the mutant gene messenger, so the mutant protein can’t get made in the first place!
This all sounds promising, and is very exciting for the HD community, however we must keep in mind that this study was done on a small group of patients. The next step is to do a larger clinical trial on a big group of patients from around the world to hopefully back-up the results from the small trial - and that is exactly what Pharmaceutical company Roche is planning to do! The ultimate aim for Roche is to fast-track a ‘pivotal study’ for this gene-silencing drug. A pivotal study is one that can produce enough data to then go to regulatory agencies to try and get the drug approved for use in patients. So, watch this space as the gene-silencing trials continue!
Richard Roxburgh - Get Involved: Enroll-HD
Enroll-HD is, in a nutshell, a worldwide longitudinal observational study. Whoa...what a mouthful, let’s break that down. An observational study is a study that simply observes individuals without intervening or controlling any factors in the study. A longitudinal study is a study that tracks people over time, rather than just looking at them once. So Enroll-HD studies HD patients and those at risk, and looks at how the disease starts and how it progresses in different people in many countries around the world.
What does Enroll-HD involve? A blood sample (for DNA testing - you don’t have to know the result if you don’t want to), and a yearly visit for a physical assessment, and a cognitive (thinking and mood) assessment. Dr Roxburgh demystified the physical assessment, something that participants are often nervous about, by performing some of the assessments on HD Association Auckland chairman Chris.
The information that is collected through Enroll-HD is used to improve our understanding of HD, to develop guidelines for clinical care, and also contributes to studies working towards therapies for HD. If you look on the Enroll-HD website and look under 'current projects' and you will see there are over 150 studies going on right now using the data from people enrolled in Enroll-HD worldwide!! https://www.enroll-hd.org/for-researchers/current-enroll-hd-data-projects/
There are currently Enroll-HD study centres in Auckland and Christchurch, with another centre coming soon to Wellington! Go to www.enroll-hd.org for more information, or get in touch with us to get more information on your local contacts for Enroll-HD.
