HD is a rare genetic condition that causes the nerve cells in the brain to break down, severely affecting a person’s everyday functions, such as mobility and thinking. It has no treatment or cure: those that carry the mutation will develop an onset of signs and symptoms, usually between the ages of 30 and 50. Tragically, the disease then progresses for 10 to 20 years, ultimately resulting in premature death and profoundly affecting entire families.

Scott Schobel, Associate Group Medical Director and Clinical Science Leader for Roche’s late-stage Huntington’s disease programme has dedicated the last five years of his career to exploring new ways to approach old questions around HD. Like with many neurological and neuropsychiatric diseases, the traditional monitoring of clinical signs and symptoms of HD is done via annual in-clinic assessments. “Typically, the patient and their caregiver meet with the physician for 20 to 30 minutes to discuss how they are feeling and functioning, while their caregiver provides a sense of the patient’s clinical status and whether they have progressed”, Scott explains. “While in-person assessments are crucial, due to their limited timeframe, the physicians often only gain a snapshot into the person’s condition. It is naturally also common for patients to want to ‘perform their best’ for their doctors, which may further interfere with their assessment.” A similar situation is often also experienced in clinical trials.

This is where meaningful innovation can make a real difference. “Using sophisticated consumer apps and wearables in clinical trials, we can now measure the involuntary movements that characterise HD through simple motor tests on a smartphone, or by passively monitoring changes in activity on a smartwatch,” he says. This offers more intricate real-time data and deeper insights into the disease outside of a study participant’s visits to their physician in a traditional clinical trial setting.

In the future, leveraging this type of technology may also have the potential to bridge the gap between initial symptoms and diagnosis. HD is typically diagnosed when more prominent motor symptoms have developed, which is relatively late in the disease’s pathophysiological process – in fact, it has been shown that individuals with HD can experience measurable brain and biochemical abnormalities up to 25 years before these symptoms appear. “Whilst this specific digital monitoring platform is only going to be used in clinical trial settings, the hope is that we can eventually use this type of technology to enable earlier diagnosis and ultimately improve the trajectory of people’s disease. This is a major potential contribution to the field that couldn’t have been achieved before – simply because these technologies didn’t exist,” says Scott.

While digital innovation has driven this development, Scott stresses how “we wouldn’t be where we are today without the people behind it. Our work has brought together and been informed by scientists, healthcare professionals and the patient community, and it is powerful and humbling to experience the energy and spirit of collaboration as we continue to develop the technology further,” he says. “It seems that when diseases get serious and life-threatening, the collaborative quality of the community increases several fold and this work has been a true testament to that.”

“Being part of this project and Roche’s broader commitment to HD is every doctor’s dream. It is the opportunity to advance our understanding of HD to ultimately make a difference in people’s lives and offer hope to patients and families that didn’t have reason to hope before. It was an irresistible opportunity and it has been the privilege of a lifetime to embark on this journey – it motivates you to get up and roll out of bed in the morning, each and every day.”