Patients in research: from participants to partners

Posted on Wednesday, July 29, 2020

By Jessica Sinclair
Research Writer

The six-minute walk test is a validated, standardized measure of functional exercise capacity. It measures the distance a patient can walk in a six-minute period and is widely used in everything from heart failure to Duchenne muscular dystrophy. But when patients and their families are actually consulted, they may say that walking distance may not be the most meaningful thing to measure for a boy with a neuromuscular disorder who expects to spend much of his life in a wheelchair. They may tell researchers that being able to use their arms for longer —to write, to play video games, to drink from a cup—would be a more important outcome for them.

These are the types of revelation Dr. Beth Potter and Dr. Pranesh Chakraborty say emerge all the time when patients are active partners in clinical research. Funded by a four-year CIHR grant, they are embarking on a rare disease research project called INFORM RARE that will  allow them to build and improve upon registries of longitudinal clinical and patient-reported data; and to use these registries as the basis for randomized clinical trials. The project begins with three patient-oriented clinical trials for children with spinal muscular atrophy (SMA), phenylketonuria (PKU) and mucopolysaccharidoses (MPS). The team expects to expand this work to incorporate additional rare diseases in the future.

Dr. Chakraborty is an associate professor in the University of Ottawa’s Pediatrics Department, an Investigator at the Children’s Hospital of Eastern Ontario (CHEO) Research Institute and the Medical Director of Newborn Screening Ontario. Dr. Potter is an associate professor in uOttawa’s School of Epidemiology and Public Health (SEPH) and an Affiliate Investigator at the CHEO Research Institute. The two researchers have been working together for about 15 years, having co-created the Canadian Inherited Metabolic Diseases Research Network in 2012. The network now has more than 50 Canadian investigators from 13 sites following a cohort of 800 children with inherited metabolic diseases. The new INFORM RARE grant expands this network and partners with the Canadian Neuromuscular Disease Registry. Among the 60 investigators who are contributing to INFORM RARE, several additional members have appointments with the University of Ottawa: Drs. Doug Coyle, Dean Fergusson, Michael Geraghty, Julian Little, Alex Mackenzie, Monica Taljaard, Kednapa Thavorn, and Kumanan Wilson.

“We don’t always understand as much about rare diseases as we do about common diseases, including their natural history, which makes it hard to determine whether an intervention will actually help,” says Dr. Potter. “There are so few patients available to study that it can be quite difficult to conduct robust clinical trials.”

Those answers about intervention effectiveness are crucial because they determine whether drugs and other treatments will be reimbursed by provincial health authorities; whether physical therapies will be incorporated into the system of care; and even whether newborns will be screened for a disease in the first place.

“There is a rich pipeline of drugs and gene therapies coming for some of these diseases,” says Dr. Chakraborty. “Health policies are going to be set, and when decision-makers have questions they will need evidence as to whether these treatments help patients and how they can best be used.”

At the core of the project is the patient engagement program led by co-Principal Investigator Maureen Smith with Dr. Potter. A former teacher and long-time patient advocate with the Canadian Organization for Rare Disorders, Smith creates a bridge between families and researchers to make sure patients have everything they need to participate fully as advisors on the project. Each clinical trial currently has two parent advisors who will provide their perspectives on matters such as engagement with the wider patient communities, outcomes, measurement instruments, and participation in the registries. The investigators expect to bring in up to 20 more advisors as feedback on next stages is required.

Although Smith is a rare disease patient herself, her role is not to share her lived experience —the patient advisors are doing that. Still, that lived experience does help her to be a good liaison. She has noticed, for example, that researchers often hold back on requests out of sensitivity especially in challenging times such as this pandemic, when really many patients are motivated to contribute as much as they can to the search for answers.

“My feeling is to be transparent and never assume that someone doesn’t want to do something. Always ask them first, and don’t make assumptions for patients,” says Smith. “Even though they may be overwhelmed, or they have lost some of their services during COVID, they may still feel that it is urgent that they be involved in this research.”

The INFORM RARE network is enthusiastic about its innovative work and thoroughly committed to meaningful patient partnerships that will help to ensure the relevance of this research for children and their families.


Image: Dr. Kumanan Wilson and Dr. Pranesh Chakraborty

Maureen Smith


Dr. Beth Potter


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