Diagnostics

A blood test for multiple sclerosis? Expect one in late May

“To our knowledge, we’re going to be the first blood-based RNA test for multiple sclerosis and definitely among the first – if not the first – in the field of autoimmune diseases,” said IQuity CEO Chase Spurlock.

Six panels of an MRI scan.

The medical toolbox for treating multiple sclerosis (MS) has progressed in leaps and bounds over the last two decades, as highlighted by the recent approval of Ocrevus for the most severe and treatment-resistant form of the disease.

Despite this success, the underlying disease mechanisms and triggers are not well understood. This makes diagnosis a challenge — with very high stakes. The longer the disease progresses without treatment, the more irreversible neurological damage can be done.

To that end, Nashville, Tennesee-based IQuity will launch a first-of-its-kind blood test for MS in late May. The technology, originally licensed from Vanderbilt University, analyzes long non-coding RNA (lncRNA) in the patient’s blood to identify patterns indicative of the disease.

“To our knowledge, we’re going to be the first blood-based RNA test for multiple sclerosis, and definitely among the first – if not the first – in the field of autoimmune diseases,” said Chase Spurlock, CEO and cofounder of IQuity, via phone.

Spurlock said the test, dubbed IsolateMS, has proven accuracy greater than 90 percent. It can also deliver results in as little as seven days. What’s more, the disease markers were present at the earliest stages of the disease.

“This was pretty exciting because, a lot of times, the molecular patterns that we can discern from the immune cells precede the physical manifestations of disease,” he shared.

By comparison, today’s diagnostic criteria actually include “the dissemination of space and time.” In other words, neurologists look for disease progression in successive MRI scans, combined with other tests such as lumbar punctures (spinal taps).

It’s an invasive process that can take months or years. The hope now is that the test can help fast-track diagnosis, allowing physicians to intervene more aggressively to prevent a loss of function.  

“This isn’t going to be the end-all be-all test,” Spurlock said. “It’s going to be woven into the tapestry of the physician’s diagnostic process and it’s going to be a tool in the toolbox that they can turn to in situations when it’s hard to say definitively yes or definitively no to MS.”

A spokeswoman for the National MS Society said the organization is still working on its official guidelines for the test ahead of its upcoming launch.

“The National MS Society is aware of this test, and in fact funded some of the research contributing to its development. However, before we provide information about it to the community, we will have our National Medical Advisory Committee evaluate how this fits in with the revised MS diagnostic guidelines which will be forthcoming later in 2017.”

Classified as a laboratory developed test (LDT), IsolateMS will not immediately be covered by insurers. CFO and CSO Julia Polk said the company has engaged a reimbursement consultancy firm to help the team build its case and early market research has uncovered a surprising source of clinical utility and value.

“We never really considered that the diagnosed population of 400,000 Americans was a testable population for us,” Polk explained. “What we’ve learned is that many of the community neurologists are taking care of patients that they didn’t originally diagnose. And they have people in their practices that they just don’t believe have MS.”

Many patients have also questioned whether they really have the disease, she said, given the many overlaps between MS and other neurological conditions. According to Polk, the literature indicates misdiagnosis in MS is between 5-35 percent.

“You do the math on that; around half of those will be on disease-modifying therapies,” she said. Given the drugs cost tens of thousands of dollars per year, between $0.5-3.5 billion may be spent annually on patients that don’t need the therapies. 

In the meantime, IQuity’s aim is to bring the price of the test down to $1,250 per test, “right around what a patient might pay for a second or third MRI when they have to pay out of pocket,” Polk said.

To say the company has many more shots on goal would be an understatement. Many more autoimmune – or simply immune-related – conditions could be decoded using the machine-learning lncRNA approach.

Next in line is a test that seeks to distinguish between irritable bowel syndrome (IBS) and irritable bowel diseases such as Crohn’s disease and ulcerative colitis. It’s currently undergoing validation. 

A third, blood-based test for fibromyalgia is expected to reach the market in early fall. It will also look at rheumatoid arthritis and lupus to differentiate between the three diseases.

Both the IBS and fibromyalgia tests tap into a deep, global unmet need. Not only do patients struggle to find a diagnosis, many contend with providers who don’t believe the conditions are real. Until now, there haven’t been many definitive biological clues. But as with the MS diagnostic, IQuity is decoding molecular patterns that are many layers deeper than what patients and providers can observe in a doctor’s office.

There is also room to expand on the MS test.

“One of the things we’re looking forward to doing in the future is developing a test that can be used to monitor disease progression or monitor – more importantly – disease activity,” Spurlock said. 

This would allow physicians and patients to quickly respond to a disease flare, potentially minimizing the damage done to the brain. The more information the better.

Photo: maciu17, Getty Images