Patient communities Patient stories

Partnering with Patients to Solve the Mystery of Myositis

When Lisa Christopher-Stine, MD, MPH and her colleagues formed the Myositis Center at Johns Hopkins University 13 years ago, they wanted to create a place where those affected by this collection of rare autoimmune muscle diseases could receive the very best care possible. The Center is a patient-centered, multidisciplinary clinic in which specialists in rheumatology, neurology, pulmonology, and rehabilitation come together to collaborate in the care of these very complex patients.

The Center also aims to better understanding myositis diseases and help develop new, more effective treatments. One way they are doing this is by partnering with patients. From the very beginning, the Center’s clinicians and researchers invited all of their patients to be part of a large, long-term registry, a research database that included blood samples, DNA, and clinical information acquired during clinic visits. This database now includes information from about 2,500 patients.

“That clinical care–research interface is an important way to think about rare diseases,” Dr. Christopher-Stine says. “You need lots of data points in order to see patterns that you just can’t see in caring for one, two, or three people. Especially when you follow people over time, you can look back and compare that data with their blood samples and DNA and find things that you weren’t even sure were true when you saw the patient in real time.”

Recently, this database facilitated one of the most significant discoveries in myositis. For many years, Dr. Christopher-Stine and her colleagues heard from patients that their muscle weakness and fatigue came on after they started taking statin medications, a widely used drug to lower cholesterol and prevent heart disease. The weakness didn’t go away after they stopped taking the drug, and the cardiologists who prescribed it said that meant their symptoms were unrelated to the statin. Scientists at the Center proved that wasn’t true.

“It’s a great example of how patients drive what we do,” Dr. Christopher-Stine says. “After a while, you hear that story enough times and you say that’s really curious.”

She remembers vividly the evening a young research assistant came up to her after clinic and said, “This is an unusual antibody here. What do you think this is?”

The research assistant, Grace Hong, had been working with Dr. Christopher-Stine in concert with the Myositis Center team, including Dr. Livia Casciola-Rosen PhD, an expert on autoantibodies, to understand how autoimmune diseases work in the body.

What Grace had first noticed turned out to be a new myositis-specific autoantibody that had not been described before. After comparing a number of the patient samples from the Center’s database, it became clear that many of the patients who said their weakness started after taking statins were the same people who had those antibodies. Now we know that that antibody—Anti-HMG-CoA reductase (HMGCR)—is associated with a form of myositis called necrotizing autoimmune myopathy (NAM), which causes muscle cells to die.

This was a valuable discovery, but there is still much more to learn about myositis diseases and how we can help improve patients’ lives. Among the first tasks that must be achieved, says Dr. Christopher-Stine, is to get more drugs approved by the Food and Drug Administration (FDA) for treatment of myositis diseases.

While a number of medications are very effective in treating myositis, most of these are used “off-label,” meaning outside the official approved indications. Insurance companies often challenge these uses, causing delays in treatment as patients and providers fight for access.

Along with this goal is finding an effective way to treat inclusion body myositis (IBM). Currently, the only treatment available for this chronically debilitating form of muscle disease is exercise, which only serves to slow the progress of disability. Those who live with IBM are understandably desperate for any therapy that can improve their condition.

Besides new therapies, a consistent treatment protocol is needed that has been scientifically verified, rather than based on “what we’ve always done.” Currently, there is no such standardized formula for deciding which drugs to try first when a patient is diagnosed with dermatomyositis (DM), for example. Providers differ widely on how they use corticosteroids and other treatments, how they evaluate effectiveness, and when they add to or change the regimen. Patients often suffer prolonged or worsening symptoms because of ineffective protocols.

Dr. Christopher-Stine also suggests that even the way providers refer to these diseases is confusing and not based on the science. Specifically, she challenges the term polymyositis (PM), calling it a diagnosis of exclusion. When myositis diseases were first classified more than 40 years ago, someone with the typical pattern of myositis muscle weakness but without the rash associated with DM was identified as PM. Modern science has refined the picture of all forms of myositis, yet old terminology remains, causing confusion and possibly hindering further progress in understanding these diseases.

“We need to put people into the right category so that they’re studied properly,” Dr. Christopher-Stine says. “The way the disease works is very different between NAM, DM and PM. If you put too many people in one box who have entirely different disease states, you’re going to bias the results.”

If a drug company has a new drug, for example, they need to test it on a fairly similar group of patients so they can tell if it is effective. If the group they study includes both DM and PM patients, the results may be mixed rather than showing a strong positive effect. This may mean that a treatment that worked well for, say, DM patients shows statistically that it isn’t effective because it didn’t work well for PM patients. 

None of these challenges are insurmountable, however. The myositis research community is one of the most collegial communities in academic medicine. Myositis experts from the Johns Hopkins Myositis Center are working together with colleagues from around the world to solve these and other questions with the goal of improving the lives of those who live with myositis diseases.

“I dream that one day we can take care of people with targeted therapies that are personalized just for them,” says Dr. Christopher-Stine. “When I retire, I want to leave the field knowing that I and others made a significant contribution to this personalized approach for all myositis patients.”

With the collaboration of the myositis research community along with data from patient registries like the one established at the Center, Dr. Christopher-Stine is optimistic they will achieve this goal.

The Johns Hopkins Myositis Center is one of the most highly respected centers in the country. It brings together a wide range of clinical expertise in rheumatology, neurology, pulmonology, and physical medicine rehabilitation along with basic science research. Patients with a suspected or confirmed diagnosis of myositis from across the country can be evaluated at the Center, with follow-up consultations with local practitioners.