Multiple sclerosis is a debilitating and unpredictable disease that often is difficult to diagnose.
Gaithersburg, Maryland-based molecular diagnostic startup DioGenix wants to change all that. The company is conducting a multicenter validation trial to show that its MSPrecise diagnostic technology can look for specific DNA changes in cerebrospinal fluid that ultimately causes auto-immune diseases like multiple sclerosis.
DioGenix is also developing a blood test to look for DNA changes that can portend MS thereby providing an alternative to testing cerebrospinal fluid (CSF) altogether.
President and CEO Larry Tiffany hopes that the test being studied in the validation trial currently will one day become the accepted method for diagnosing the disease because it will prove far superior to current standards of diagnosis, which often lead to false positives.
There really is no one standard test in diagnosing MS and physicians often do a combination of CSF analysis and MRIs as well look at the patient’s clinical history to make a diagnosis.
When analyzing CSF, the clinicians typically look to see if there is an inflammation and whether the body is producing the auto-immune response in the central nervous system. But DioGenix’s MSPrecise test of CSF, by contrast is looking for “specific DNA changes that create that downstream inflammatory process,” Tiffany explained.
Tiffany’s confidence stems from the fact that a previous clinical study showed the company’s test to more accurately diagnose MS than current CSF analysis. Now 150 to 160 patients are being enrolled in a larger validation trial that will help to commercialize the test a couple of years down the road.
A Deep-dive Into Specialty Pharma
A specialty drug is a class of prescription medications used to treat complex, chronic or rare medical conditions. Although this classification was originally intended to define the treatment of rare, also termed “orphan” diseases, affecting fewer than 200,000 people in the US, more recently, specialty drugs have emerged as the cornerstone of treatment for chronic and complex diseases such as cancer, autoimmune conditions, diabetes, hepatitis C, and HIV/AIDS.
Making an accurate and diagnosis of MS, which DioGenix is aiming for, is not simply a matter of helping the patient have a better handle of the disease. It has significant cost implications.
“Every patient wrongly diagnosed with MS is prescribed very expensive therapy and they may be on that therapy for years before it is determined that the person does not have MS,” he said.
MRIs are often used to diagnose the disease and that is problematic for several reasons – one, the MRI of a patient suffering from a severe migraine or Lyme disease looks similar to that of an MS patient. Also, the disease would have to had an impact on the central nervous system to be properly reflected in an MRI. That means a patient has already suffered MS attacks.
But with MSPrecise, there is the potential to put the patient on therapy sooner.
“If a patient has MS, then the earlier you put them on therapy, you reduce the severity of their attacks you reduce the frequency of those attacks and recent data has shown that you retard the progression of the disease,” he said.
DioGenix has raised about $8 million, including a grant from the National Multiple Sclerosis Society that is supporting the company’s research in ultimately being able to track DNA changes in immune blood cells instead of having to analyze CSF.
For now, however, the goal in 2013 is to establish a CLIA Lab, where the MSPrecise test may be commercially administered in the future.
[Photo Credit: Multiple sclerosis from Big Stock Photo]
