| When Dutch-American biotech UniQure announced the first successful drug trial in the deadly neurodegenerative disorder Huntington’s disease last month, the news spread quickly through a cluster of potential patients in northern Scotland. Huntington’s is five times more common in the north of Scotland than elsewhere in the world, according to research by Zosia Miedzybrodzka, a genetics professor at the University of Aberdeen who treats Huntington’s patients in the region. The disease runs in families, many of whom have been long established in north Scotland. In a study earlier this year, she estimated that as many as 415 people there could benefit from a treatment — a number that hadn’t previously been known, because many people don’t get tested for the altered gene linked to the disorder. “The conversations have changed in the last two weeks,” Miedzybrodzka says. With the prospect of a treatment, people are more inclined to want to know whether they’re at risk of getting sick, she says. Huntington’s is linked to the huntingtin gene, which has a certain section of repeats in a triplet pattern. When that section is too long, a person is at a much higher risk of getting the disease, says Neil Ward, vice president of Europe for Pacific Biosciences of California, a genomic sequencing firm that markets tests to more accurately measure the length of these repeats. “People often don’t want to know, understandably, that they’ve got a lifetime risk of Huntington’s or any of these types of diseases if there isn’t any possibility of a cure,” Ward says. Changing those perspectives will be a “process over time,” he says. Huntington’s starts out with people becoming clumsy, having a hard time concentrating or flying off the handle easily. Eventually patients’ personalities change more dramatically and due to problems with motor skills, they lose the ability to care for themselves. In the UniQure study, a dozen patients who got a high dose of the biotech’s gene therapy AMT-130 saw their illness progress 75% slower over three years than a comparison group of patients. Though the biotech has yet to release detailed data on the trial, Chief Executive Officer Matt Kapusta says it anticipates being ready to seek approval for the drug in the US next year. Actually getting the therapy to patients once it’s approved will depend on pricing and logistics. Kapusta tells me the company hasn’t made firm decisions about what to do outside the US. In another factor that could make treating patients in north Scotland more complex, the treatment must be administered in a lengthy brain surgery that relies on a real-time MRI to guide the neurosurgeon. Most hospitals in the UK lack this kind of specialized equipment in their operating theaters, Miedzybrodzka says. UniQure estimates that half of people with Huntington’s haven’t been tested. In Scotland, setting up social services such as financial benefits and work support for the families of patients has already led to higher rates of testing, Miedzybrodzka says. About one-quarter of her patients come to the clinic before they have symptoms of the disease. “The people in our part of the world are those who go, ‘I cannae abide not knowing,’” Miedzybrodzka says. “There was a little sort of Scottish stoicism, just kind of wanting to know where you were.” — Naomi Kresge | 
