The first participant in Australia signed up for the study in Melbourne in August 2013. As of March 2014, the study is underway at two sites in Australia and two in New Zealand, with 76 people in the region signed up.
This wing of Enroll-HD covers a vast geographic area. It includes people on Australia’s west coast; participants in Melbourne, 2,200 miles (3,500 km) away on the continent’s south coast; people who live on the island of Tasmania 400 more miles (600 km) to the south; and stretches all the way to New Zealand, another 1,500 miles (2,500 km) to the southeast.
A big distance to cover
In Australia, a huge continental landmass with a population of only 26 million, one of the challenges is reaching everyone who requires HD services, says neurologist Andrew Churchyard, MD, who runs the Enroll-HD study site at Calvary Health Care Bethlehem in Melbourne: “The smaller states have a very sparse population, and there are issues about rural access to services.”
Tasmania, the island just south of the Australian mainland, is one of the world’s HD hotspots. Churchyard says the disease is two to three times more common there than anywhere in the US or Europe. But while Tasmanians have access to local social workers and psychiatric help there is no HD specialist neurologist on the island. Instead, Churchyard flies down to two Tasmanian towns, Launceston and Devenport, once every three months to hold HD clinics. He expects to begin enrolling people there into the study some time later this year.
This wing of Enroll-HD covers a vast geographic area.
New Zealanders have been involved in smaller-scale studies before, but Enroll-HD offers a unique opportunity for international collaboration, says Richard Roxburgh, FRACP, a neurologist and HD specialist at Auckland City Hospital. “What we do gets magnified, because we’re partaking in an international project,” he says. “It provides a fantastic way of collaborating in the future.”
“Engaging and participating in research gives me an opportunity to link in with people that are in the forefront of knowledge about HD,” says Tony Mims, a gene-positive Australian based in Melbourne who has signed up for Enroll-HD. “It also gives me a chance to feel like I’m contributing to the overall effort.”
Mims helped launch a youth support group called the Australian HD Youth Alliance, and has been involved in publicizing Enroll-HD. “It’s not advertising,” he says. “It’s helping people be knowledgeable about it—and getting the word out that there’s an important study out there if you do want to get involved.”
“The major value of the study is to get a really good idea about how the disease evolves over time, and getting a lot of information about many people over time is the best way to do that,” says Churchyard. “This is going to be a long-term project.” He expects to recruit several hundred people, but for now his team is moving cautiously: As of early February 2014, 26 people had signed up in Melbourne.
“We want to get the systems running and have the proper human resources so that when the study starts it starts smoothly, with high quality data collection,” he says. “In the end the quality of research depends on the quality of the data.” Additional sites are planned for Sydney and in the small city of Brisbane.
Enroll-HD and research in Australia
“From what I’ve seen, families are embracing Enroll-HD,” says Nellie Georgiou-Karistianis, PhD, a cognitive neuroscientist at Monash University, also in Melbourne. Georgiou-Karistianis conducts brain imaging studies in HD and other movement disorders, and is working on new ways to track the changes to the brain during the course of the disease. She says that the study offers “a fabulous platform” for new opportunities in research: “We’re hopeful that it will facilitate the research we do.”
“Families are embracing Enroll-HD,” says Monash University scientist Nellie Georgiou-Karistianis.
In one of her projects, she measures people’s walking speed and coordination with an electronic floor mat that records the length and speed of the stride, and how they deal with obstacles. “We try to understand how patients with HD walk, and what might characterize their walking pattern,” she says, as well as how distractions such as carrying on a conversation affect walking.
The idea is to find a sensitive way to identify subtle changes in movement. But the research should also provide recommendations about how people might better cope with physical changes and be able to walk and move around more easily. “We’re hoping to be better equipped to inform families in the everyday home about what things to do or what not to do” so that HD-affected people can walk stably and safely, says Georgiou-Karistianis.
She predicts that Enroll-HD will make it easier and faster to do studies like these because it will attract more people who may not have previously been aware of the research. That in turn will help her group attract new participants to their studies. She hopes to launch another study to investigate cognitive and emotional training for people with HD—programs that help people learn mental skills to improve memory and information processing, manage strong emotions like anger and frustration, or even slow the changes in brain tissue that happen over time in HD.
One of the major goals of Enroll-HD is to improve care for everyone with HD, not just those who participate in the study. “One problem worldwide is that HD clinics are poorly funded, and these are patients with complicated problems who need resources,” says Churchyard. “With a big study, people can employ new staff and develop their skills, upgrading the general quality of care.”
Ultimately, the decision to participate in studies like Enroll-HD is a personal one, says Mims: “I try to explain both ends of the story.” On the one hand, dealing with emotions that may come up during the research visit can be difficult. Mims advises people who do volunteer for the study to make sure they have someone to turn to before and after the visit, whether it’s a professional or a trusted friend or family member.
On the other hand, joining up with a study is also a concrete contribution toward the effort to find effective treatments. “One of the things that’s pervasive in the HD experience is the feeling of helplessness and isolation,” he says. “Participating in research is an incredible opportunity to reduce those feelings.”
This story was originally published in the March 2014 issue of Enroll!