Elevating the patient voice in Huntington’s disease

In the traditional drug development model, patients themselves or their representatives are often absent or play a minimal role in discussions about drug development, where scientists, researchers, regulators and pharma industry experts take the lead in designing and developing treatments and trials. Though we may be an expert in developing medicines, no one knows more about living with a disease than patients and their families.

In rare diseases where research and treatment can be as rare as the disease itself, it is even more imperative to work with the community as early as possible to better understand what meaningful benefit means to patients; especially with rare neurological diseases where endpoints are often not clearly defined.

It is critical that patient representatives have a seat at the table, quite literally. Of the nine external advisors that make up a clinical advisory committee for Huntington’s disease, Cheryl Sullivan Staveley, a caregiver, is one of two family representatives providing the patient perspective. She sits alongside world-renowned researchers, scientists and clinicians where she directly contributes to the guidance and strategy of our Huntington’s disease research programme.

Cheryl is an expert on Huntington’s disease and healthcare in her own right. In addition to being a registered nurse, her husband John died from Huntington’s disease, as did her daughter Meghan from a juvenile form of the genetic neurodegenerative disease. Cheryl also runs two Huntington’s disease support groups and is a widely known and respected advocate in the patient community. “As much as the researchers are in their trenches, patients and families are in the trenches everyday 24/7 - in my case for 30 years. I can provide the family’s perspectives and the personal, human side of Huntington’s disease in our discussions - such as what’s meaningful, realistic or feasible - to help create better, more robust trials,” she says.

She’s playing a critical but uncommon role. As a patient representative, she is shaping the overall strategy of our approach to finding a treatment. But she is also forging a new era in healthcare where patients shape the future of development as equal partners.

There is no cure and only two approved treatments, which target the motor symptoms. However, directly engaging with the patient community reveals that the priority concern is not motor disability; it is cognition and function.

Cheryl explains how preserving cognitive function is an essential element for those living with the disease: “For some people with Huntington’s disease, they may be unaware of how much chorea - which are the motor symptoms - they actually have, and their chorea is less bothersome to them than it is to their loved ones that observe them daily. John and Meghan acknowledged they would have tolerated chorea all day long and stayed a bit more of themselves if cognitively and emotionally they were fine.”

Roche has embarked on a large clinical programme in Huntington’s disease together with the community. Mai-Lise Nguyen, Global Patient Partnership for Rare Diseases at Roche, is working closely with patient groups and representatives and is enthusiastic about the patient-centric approach: “Our teams are really focused on co-creating together with the patient community. We recognise the need as well as the potential that this approach has in order to design better pre-clinical and clinical programmes, move faster and develop more meaningful endpoints - and ultimately deliver a transformative medicine to patients.”

In planning for the clinical programme, the Huntington’s disease team sought advice on all aspects of study protocol. “It was clear from the community that the priority is to develop a treatment that could stop or slow the progression of Huntington’s disease. Patients would do whatever is needed to reduce the devastating impact of Huntington’s disease, but we want to understand their perspective on how we can build a meaningful clinical trial programme for them,” Mai-Lise says.

For Cheryl, one role she plays on the clinical advisory committee is to bring a human element to the equation. “Scientifically knowing the disease doesn't equate to a real human being or what living, breathing families experience with Huntington’s disease on a daily basis. In the committee we utilise my perspective as a family member and community representative to come up with a better drug, a better plan and the best possible clinical trial,” she says.

Conducting the first pivotal programme in Huntington’s disease is a learning process for everyone involved. Each piece of available data informs the next decision – and Cheryl and other patient partners are there every step of the way. “Clinical trials and observational studies in, progressive, neurological diseases can take time to be able to measure changes in the brain that affect patient outcomes and we are on this journey together, learning from each other,” says Mai-Lise.

In order to bring meaningful treatments to patients, we need to fully appreciate the mechanisms and impact of a disease on patients and families. In Rare Disease, we are embracing patient partnership across the product lifecycle. By having patient representatives like Cheryl and patient advocacy groups collaborating in decision-making, it allows their knowledge and unique insights to be captured throughout every stage of research and development.

Cheryl points out that “clinical development isn't just scientific knowledge found under a microscope. It’s also is about empathy and understanding the experience of patients and their families to create a better treatment; dare I say a cure. I hope in the future to see the patient community always sitting alongside the scientific community as equal partners from the very beginning.”

In 2006, together with the University of California, Ionis began developing a treatment for Huntington’s disease that attacks the underlying cause of the genetic neurodegenerative disease.

Promising research from Ionis showed the potential to slow the progression of Huntington’s disease through the lowering of HTT levels in the nervous system. In 2013, an

alliance was formed between Roche and Ionis

based on the promising technology developed by Ionis. At the end of 2017, Roche took over responsibility for all development and commercial activities related to the Huntington’s disease programme.

It further proves that when it comes to successful drug development, partnership is essential.