U of S research shows 'unusually high' rates of rare neuromuscular disorder in Indigenous people in Sask.

Kennedy disease research on Indigenous people WATCH: Chad Leroux reports on researchers who've found an 'unusually' high rates of a rare neuromuscular disorder in Indigenous people.

SASKATOON — A neuromuscular neurologist and associate professor at the University of Saskatchewan, Dr. Kerri Schellenberg, began noticing a trend when it came to her patients who had a rare neuromuscular disease called Kennedy’s disease.

“It became apparent to me that there seemed to be a larger number of patients with Indigenous ancestry than expected. That caused me to consider if there might be a genetic process going on, such as a founder effect,” Schellenberg told CTV News.

Kennedy’s disease is a rare, hereditary neuromuscular disease that affects motor neurons exiting the brain stem and spinal cord into muscles in the face, throat, arms, legs, and lungs.

“This causes difficulty for muscles groups in various portions of the body. So difficulties with speaking, swallowing, breathing, and movement in arms and legs.  It can also cause some other multi-system abnormalities,” Schellenberg said.

She then began research with Dr. Gerald Pfeffer at the University of Calgary to discover if her theory was correct. When they began, Schellenberg said she was unsure what the results would yield because similar research hasn't been done.

“This is something we were wondering about, but it really is a new question. It hadn’t come up before in the literature, so I didn’t even know if this was going to be a real finding or not,” Schellenberg said.

The findings, which were published in the journal Neurology Genetics, found the rate of Kennedy’s disease in people of Indigenous descent in Saskatchewan is 14.7 per 100,000 people, while the average rate is one to two per every 100,000.

“This finding was actually very surprising to me, I didn’t expect it to be that high. One of my concerns is that I think that this is an underestimate,” Schellenberg said.

“I know from the patients in my clinic, that they have other family members who have the disease, who reside in Saskatchewan, but aren’t seen in my clinic for a variety of reasons.”

Schellenberg says one of the reasons the rate of Kennedy’s disease is so high in the Indigenous population is due to something called founder effects.

“There are lots of different genetic conditions that have shown a founder effect, and even within Kennedy’s disease there are multiple areas in the world who seem to have been seen to have a founder effect, such as in Italy or Finland,” Schellenberg explained.

“Patients who share some common portions of their DNA are all distantly related to each other, and it all goes back to one individual a number of years ago, who either was the first person to have the mutation or that mutation was introduced into the community at that point.”

Schellenberg said she hopes her research can bring more attention to the rare neuromuscular disease, and as a result, can make things easier for those who have it.

“We want to see increased awareness, and increased patient access to care."

Now that the initial portion of the research is done, Schellenberg says they are now expanding to Calgary, Edmonton, Winnipeg, Hamilton, and Thunder Bay, as well as continuing in Saskatoon.

CULTURALLY ENGAGING WITH PATIENTS

Dr. Alexandra King and her husband Malcolm King, who are both faculty members at the U of S and leading the Pewaseskwan Indigenous Wellness Research Group, were brought in to help researchers engage in a culturally safe manner with patients.

Malcolm recalls a virtual ceremony held during the research process that he feels was important to all those involved.

“It was emotional in many ways. We had a couple of very nice meetings with this initial community advisory group,” Malcolm told CTV News.

“It’s an important aspect to Indigenous research in general to incorporate ceremony into it. That was something.”

Malcolm said this study has its own set of difficulties because the work they did had them interacting with all kinds of Indigenous communities across the province, mainly Cree and Saulteaux.

“Some are living in urban areas, some are living on reserves, but there is no single geographic community or political community that we could go to,” Malcolm said.

KEEPING AN EYE ON THE RESEARCH

Homira Osman, VP of research and public policy at Muscular Dystrophy Canada (MDC), says it will be following along as more work is done around the country to further the research.

“This is an excellent research study.  It really highlights the power of clinicians participating in research.  You can see Dr. Schellenberg and Dr. Pfeffer encountered these experiences where they noticed these individuals with Indigenous descent also had a diagnosis of Kennedy’s disease,” Osman said.

“They were able to use that to fuel their research, their research questions, and to go back and study this.  For us at Muscular Dystrophy Canada, it really highlighted the value of clinic research and clinician-scientists.”

Osman said research like this goes a long way in helping organizations such as MDC with how they handle patients with Kennedy’s disease.

“We really want to maximize the impact of this study. It can help us to inform how we deliver our programs and services, what other areas of research to support, and it’s really telling story around founder effects, and how that’s really unique in Canada."

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