There may be no cure yet for Huntington’s disease, but patients — and their families — can still do plenty to extend their life expectancy through proper diet, exercise, and emotional support.
That’s the message Norway’s Astri Arnesen wants to share with the world.
She said her organization, based in the Norwegian city of Søgne, was inspired in the early 1980s by U.S. activist Marjorie Guthrie — the widow of U.S. folk singer Woody Guthrie, who died of the disease in 1967. The EHA today represents the national Huntington’s associations of 28 countries. This includes several non-European Union member states such as Israel and Russia.
“The mean survival time for a patient diagnosed with Huntington’s is 15 to 20 years,” Arnesen said. “Most people, when they are diagnosed, have had symptoms or problems, but they didn’t know what it was about.”
Europe is home to roughly 50,000 Huntington’s patients, though prevalence varies widely — from 7 per 100,000 inhabitants in Finland to 20 per 100,000 in Scotland.
Arnesen herself comes from a Huntington’s family. Her mother had the disease, and her brother died at 46. But he was a heavy smoker who worked night shifts, ate plenty of pizza, and drank lots of beer.
“He got sick 20 years before my sister, who lived a normal, healthy life,” she said. “That’s why I advise people to stay healthy and get exercise.”
Arnesen added: “There’s more talk these days than before about lifestyle factors. Exercise is probably the single important factor. The question is when and how. You can’t influence whether you get Huntington’s or not, but you may potentially influence how early you get it.”
A ‘lack of understanding’
The organization Arnesen runs survives on an annual budget of only €150,000 (about $170,000). Unlike the professionally staffed, New York-based Huntington’s Disease Society of America, the EHA is entirely managed by volunteers.
The EHA is not to be confused with the European Huntington’s Disease Network, a nonprofit group based in Germany that’s dedicated to advancing research, conducting clinical trials, and improving care for people affected by the disease.
“There’s a lack of understanding and knowledge among health professionals,” she said. “It’s a complex disease and, also because there is no cure, many doctors — even neurologists — will simply say ‘sorry for you, see you next year.’ Because they can’t cure you, they think they can’t help you. But people who get the proper support live longer and have much better lives.”
More to the point, Arensen said, “we can’t expect the general public to know about a rare disease, but we do expect some channels of knowledge for families to turn to, and people with the right expertise. The EU has already put into place an infrastructure called the European Reference Network, but we need to make sure it’s actually helping people’s lives.”
Only two Huntington’s therapies have been approved by the U.S. Food and Drug Administration. The first is Xenazine (tetrabenazine), which was developed by Denmark’s Lundbeck Pharmaceuticals to treat chorea — or involuntary, random, sudden twisting, or writhing movements — associated with 90 percent of Huntington’s patients. The second is Austedo (deutetrabenazine), a medicine developed by Israel’s Teva Pharmaceuticals for the same condition.
The EU’s European Medicines Agency has also cleared Xenazine for marketing, but not Austedo, since Teva has not yet sought EMA approval.
“In Huntington’s, we have very limited options, though you can treat sleep disturbances and psychiatric symptoms,” Arnesen said. “You may be depressed because of Huntington’s, but you should be treated.”
She added: “We are not just about the patient. It’s also about supporting the family. The social and emotional burden is really big. Patients also need nutritional guidance. It’s very important to maintain your body weight, so you need a lot of calories. Also, your ability to work declines, so some adaptations are necessary.”
Potential Huntington’s therapies
To that end, for the first time, the EU will fund two projects aimed at improving life with Huntington’s.
The first, Healthe-RND, will be coordinated by Alzbeta Mühlbäck of the University of Prague. It involves online consultations with Huntington’s experts in the Czech Republic, Germany, Ireland, Italy, and the Netherlands. Each of the five sites will recruit both pro-dromal Huntington’s disease (gene positive but not yet visible symptoms) and symptomatic patients.
The second, DOMINO-HD, will be coordinated by Monica Busse in Cardiff, Wales; this one will explore the influence of physical activity, sleep, and diet on the age of Huntington’s onset. It will include 300 patients in the early to middle stages of Huntington’s and be carried out at five clinics in Germany, Ireland, Poland, Spain, and Switzerland.
When it comes to Huntington’s disease care and treatment, some of the most advanced countries in Europe are Belgium, Germany, and the Netherlands, Arnesen said.
“But even in Norway — which is one of the best welfare states in the world — 95 percent of Huntington’s families say they don’t get the support and health services they need. The Scottish have done an amazing job with their association, but still, when I meet families in Scotland, the reality is another story.”
Meanwhile, several companies are working on potential gene therapy treatments, including Wave Life Sciences, uniQure, and Roche. Updates on these efforts will be a main focus of the EHA’s next semi-annual conference scheduled for Oct. 4-6, 2019, in Bucharest, Romania.
Three clinics in Germany (Berlin, Bochum, and Ulm) and four in the U.K. (London, Manchester, Birmingham, and Cardiff) will soon start recruiting participants for the Roche natural history study. Participants will be observed for 15 months without any treatment to see how the diseases naturally progresses. Then, all participants will receive RG6042 — an experimental therapy that has shown some promise in a previous small-scale study by Ionis Pharmaceuticals, which originally developed it.
C. Frank Bennett, PhD, the senior vice-president of research at Ionis, recently called RG6042 “potentially the biggest breakthrough in neurodegenerative disease in the past 25 years.”
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