Rare disease research at the University of Minnesota holds global promise

A person poses for a portrait
Mekayla Holm shares her enthusiasm for rideATAXIA. Advocates, cyclists, their friends and families, ride bikes and recumbent trikes along 10 to 50 mile routes around the U.S., while raising funds for the Friedreich's Ataxia Research Alliance. In Woodbury, Minn., on July 1.
Kerem Yücel | MPR News

Mekayla Holm danced competitively for 12 years. In high school, that changed. She noticed she couldn’t keep up with her peers as they danced. At 17, she was diagnosed with Friedreich’s ataxia, or FA, a rare, genetic neuromuscular disease that affects roughly 4,000 people in the United States, and 15,000 worldwide. 

Mekayla’s brother, Seth, also has FA.

A person sits outside
Mekayla Holm spends time outside at her Minnesota home in June 2021.
Courtesy of Mekayla Holm

“We kind of found out that we had FA together, because [Seth] was exhibiting similar symptoms,” Mekayla said. “I know I can go to him if I'm having a bad day. He has definitely been a good brother to look up to.” 

Most notice their first symptoms between the ages of five and 15, often struggling with sports, running or climbing up the stairs.

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“When parents and children are given the diagnosis, they are told that it is a progressive disease, that the neurologic symptoms will get worse over time. They’re told that not only does the condition cause problems with balance and coordination, but it will also affect the heart and the muscles,”  said Jennifer Farmer, executive director of the Friedreich’s Ataxia Research Alliance. The organization provides support for families and facilitates scientific research.

Mekayla Holm, of Woodbury, Minn., continued to dance as her symptoms became more noticeable. Now 24, and a business analyst at 3M, she needs a wheelchair to get around, and she’s participating in a Friedreich’s ataxia research study at the University of Minnesota’s Center for Magnetic Resonance Research.

Christophe Lenglet and Pierre-Gilles Henry are collecting detailed images of her brain and spinal cord, even capturing different neurochemicals. They’re measuring how progression of Friedreich’s ataxia affects Mekayla — alongside many other participants in a study called TRACK-FA. At a study visit, Mekayla said she starts with a blood draw and a series of neurologic tests, like the 9-hole peg test. 

A person in a wheelchair sits at a table and completes a test
Mekayla Holm completes the 9-hole peg test for the TRACK-FA study at the University of Minnesota's Center for Magnetic Resonance Research in June 2021.
Courtesy of Mekayla Holm

“You have to take these tiny pegs and put them into holes that fit exactly those pegs, and you have to do it with the dominant hand and non-dominant hand and it can be frustrating, but once you finish the test, it’s very rewarding.” After that it’s time for MRI scans.

“I'm not claustrophobic or anything like that,” she said.

She keeps as still as she can on an exam table inside of an MRI scanner that looks like a giant magnetic cylinder. It’s noisy, but she wears earplugs with special tubes attached. “The tubes go outside the room and they play music for you. They ask you what your favorite style of music is.”

Holm prefers Doja Cat. The hard part, she said, is that it makes her want to get up and dance.

Precise images for a worldwide research network

Henry said neurochemicals look like sets of peaks on an image — long, zigzagging lines where each peak corresponds to a different chemical. Henry and Lenglet have already shown that the spinal cord gets smaller over time in Friedreich’s ataxia. 

A person looks on
Pierre-Gilles Henry, a professor in the Department of Radiology at the University of Minnesota's Center for Magnetic Resonance Research, stands for a portrait on June 29.
Kerem Yücel | MPR News

They are both fascinated by how much MRI technology can show about such a complex part of the human body. “The number of neurons in the brain is about 100 billion,” Henry said. “And then, the number of connections between those neurons is much, much higher than that.”

Their goal is for researchers all over the world to use these images of the brain and spinal cord to better understand disease progression and then, to measure how effective different therapies are during clinical trials. They’re working with researchers in Australia, Canada, Germany and Brazil, as well as Florida and Pennsylvania. The University of Minnesota has a crucial role to play.

“We’re in charge of coordinating the neuroimaging aspects,” Lenglet said. 

As researchers work together, gathering data, brain and spinal cord images from multiple participants, the process of finding new treatments to slow or halt disease progression could accelerate.

“Clinical trial-ready biomarkers are going to be very important to reduce the number of people needed in a clinical trial, or shorten the time, and eventually develop treatments, and eventually cures for FA,” Lenglet said.

A person looks on
Christophe Lenglet, a professor in the Department of Radiology at the University of Minnesota's Center for Magnetic Resonance Research, stands for a portrait on June 29.
Kerem Yücel | MPR News

For Henry, seeing patients who’ve come from across the U.S. to help is humbling.

“I really enjoy meeting with families, and just talking with them and listening to the difficulties that they have been facing, but also — you can feel the motivation to participate.”

Mekayla’s brother Seth has participated in the research, too. “What they’re doing there is beyond incredible,” he said.

A sense of urgency

FA patients can see a progressive loss of sensation in their arms and legs, and a decline in mobility and muscle strength over the years. They can have scoliosis, hearing loss, speech and vision difficulties. Some develop diabetes. Most lose the ability to walk 10 years after their initial diagnosis. And, Farmer said, individuals with FA develop a serious and life-shortening heart condition, which can lead to heart failure.

“We don’t have a lot of resources compared to other diseases that might be more common,” Farmer said. “We need to optimize resources, including the resource of time — because to our patient families, every day matters.”

After her diagnosis, Mekayla has become dedicated to participation in FA research and disability advocacy.

“We’re so underrepresented in so many different areas and spaces,” Mekayla said. “And so I think participating in trials, becoming an FA ambassador, has really pushed me to become the best version of myself, to advocate for those who aren’t able to.”

The University of Minnesota is actively enrolling participants. So far, 75 people with Friedreich’s ataxia have taken part in the TRACK-FA neuroimaging study.

“There’s a lot of hope, research and people that are on our side, that want to help us live the best lives we can,” Mekayla said.