Jordan Payne is a senior sociology major at Christopher Newport University. She’s working, like so many others, on her senior seminar. But the connection she has to her project is uniquely personal.
Payne is interviewing people diagnosed with myotonic dystrophy, or DM1, the most common form of muscular dystrophy. According to the Myotonic Dystrophy Foundation, DM1 is a genetic condition that affects more than just muscle systems.
Payne received her own DM1 diagnosis at 21 years old.
Her body behaved in unexpected ways starting around age 15 . “I’d always been a very athletic kid growing up, and I was just noticing that I wasn’t improving my times in cross country. I was stumbling a lot - tripping, falling,” Payne says. “My legs just weren’t really cooperating and I honestly had no idea what was going on.”
Since then, Payne says the biggest struggle for her has been intense daytime sleepiness - especially as a college student with no shortage of academic and social commitments. Her doctor, Kazi Ullah, says she would sometimes sleep “20 hours straight.”
Payne says she found solace in a few DM1 support groups on Facebook - “it’s nice to be able to ask a question and hear from people who have the condition,” - and now wants to take it a step further with her final university project.
Payne says she’s studying how the condition “can change how society reacts to you, and how you react to society, and how it can change your perception of yourself.”
But Payne’s involvement in her community goes beyond even lived experience and sociological study. She’s also deeply involved in an effort to treat DM1 at its roots - all the way down to the molecular level.
Treating the untreatable
Payne says getting diagnosed was actually something of a relief - an explanation of previously mystifying physical ailments granted her some feeling of control.
But there’s no existing treatment for the disease. Patients have to rely instead on symptom management, which is difficult since the condition can affect any organ system in the body.
“It looks different for everyone who has it,” Payne says, adding, “it’s a progressive disease, so what it looks like now isn’t always what it’s going to look like.”
Dr. Nicholas Johnson is an associate professor at VCU Health, where he studies the progression and causes of muscular dystrophies. He describes DM1 as a “repeat expansion in your genes” that binds up essential molecular building tools.
Johnson says you can think about it like an overloaded clothing factory.
“You have a pair of scissors that’s supposed to cut squares of fabric into shirts or pants or dresses,” he says, “but your pair of scissors is bound up by that repeat expansion.”
That results in proteins not ending up in the correct shape. Instead, they’re left as squares of fabric.
Johnson says the technology to actually address that root problem was just not available until recently. It’s got a mouthful of a name - Antibody Oligonucleotide Conjugates - but is called AOC 1001.
A type of “silencing RNA” developed by Avidity Biosciences, AOC 1001 has the ability to connect with and remove the “repeat proteins” found in DM1 patients - actually targeting the condition at its source. At least, that’s what Johnson, Ullah and Payne are hoping.
A world first
In October, Payne was the first person to receive a transfusion of the new drug in the national MARINA trial sponsored by Avidity. In total, 44 patients across the U.S. will get the treatment or a placebo. Johnson and Ullah are both researchers on the study.
When Payne got word that she’d be involved, her parents were apprehensive. But Payne says she only felt excitement, even knowing she could be one of the patients to receive a placebo.
“You know that you’re being part of something that can lead to a cure later on or a treatment later on, and that’s huge,” she says.
Besides, if the treatment is shown to be safe and effective - Payne is hopeful that it will - it will become more widely available after further study.
“It’s bigger than myself, it’s about this huge community of people who really just - they need hope,” Payne says. “Having a condition where you’re told there’s no cure, no treatments, really does feel like kind of a punch in the gut.”
Ullah, who works with many muscular dystrophy patients, shares Payne's excitement.
“She’s the person who’s taking it, but she’s taking it for hundreds of thousands of our patients who are outside there waiting for it,” he says.
Finding community, finding hope
“I’ve just been very, very fortunate to have the resources I have, like Dr. Johnson and Dr. Ullah,” Payne says.
She’s grateful not just for being part of the trial, but also for having doctors who helped her understand a condition she hadn’t even heard about before the diagnosis, and who have supported her. Ullah actually stayed up all night monitoring her vitals on the night after her infusion, which happened at VCU Health. He says it was tense, her being the first study subject.
“We tried to stay with her the whole time, outside of her door,” Ullah says, “to make sure our patient is perfectly okay.” Fortunately, Payne had no adverse reactions.
The treatment is, of course, very new. Payne is enrolled in the PhaseI/II trial, which are mainly focused on the drug’s safety - meaning the broader Phase III trial is still a ways away, with full approval beyond that. It will be years before trials are complete.
While she waits for results, Payne is continuing to work on her seminar project.
“It turned out to be very cathartic, for them and for myself,” she says. “We just get to sit there and sit across from someone who has - who really just understands you.”
