Diagnostic test for Lou Gehrig's disease

You don't want to pass Robert Bowser's new medical test. Even he hopes you flat-out fail.

Bowser is director of the ALS Tissue Bank and an Associate Professor of Pathology at the University of Pittsburgh School of Medicine who is using a key piece of biomarker discovery equipment known as SELDI to find new ways to identify and eventually treat Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease.

He is so confident in his ALS research that he recently formed Knopp NeuroSciences to commercially market a more accurate and faster way of diagnosing the fatal disease, which begins by attacking nerve cells in the brain and spine until patients cannot walk, swallow, talk or breathe.

Better known as Lou Gehrig's disease, diagnosing ALS typically takes 10 to 13 months of medical tests, MRI exams and electrodiagnostic studies -- an excruciating long and anxiety-filled period for the estimated 10,000 to 15,000 individuals who desperately want to learn if they have the disease or not. Medical tests and doctor visits alone can wind up costing upwards of $6,000 per case.

Professor Bowser believes his biomarker discoveries and forthcoming diagnostic test can dramatically shorten that time to 24 hours with a spinal tap diagnostic exam that extracts a drop of cerebrospinal fluid -- all at a fraction of current costs.

"My goal is to develop a test that can rule out ALS as early as possible," said Professor Bowser, who named his company after Pittsburgh shopping mall developer Walter Knopp, an ALS patient who died last year. "This will be a certainty test -- you either have ALS or you don't -- nothing in between."

Mr. Knopp helped finance the purchase of a pivotal research tool known as SELDI (Surface Enhanced Laser/Desorption Ionization), which Professor Bowser used, along with two proprietary computer algorithms, to find a panel of protein biomarkers in cerebrospinal fluid for ALS patients and non-ALS patients.

Developed by Ciphergen Biosystems Inc. of Fremont, Calif., SELDI is a proprietary mass spectrometry system which uses ProteinChip(R) arrays specifically designed for discovering, validating and analyzing the biomarkers. Biomarker tests are quantitative measurements of biological activity that signal the presence of disease.

The technology enabled Professor Bowser to look for specific protein signatures and analyze approximately 37,000 signs of measurable biological activity that might correlate to observable disease changes. He was able to narrow the field down to a subset of 12 proteins in a single biomarker profile of which three that were identified play pivotal known biological roles in ALS disease pathology.

"To rule out ALS in a day rather than spiral into a year-long depression waiting to learn if you or a loved one has the disease, makes the work of Professor Bowser enormously important and demonstrates the power of SELDI biomarker discovery technology," said William Rich, President and Chief Executive Officer of Ciphergen, whose personal familiarity with ALS stems from the death of his father two years after being diagnosed with it.

In one of his first studies, Bowser, working with researchers at Pittsburgh and Massachusetts General Hospital, correctly identified 92 percent of the ALS cases -- data that he presented at an ALS conference in Italy and The American Society of Investigative Pathology last year. Since then, his group has done further studies involving cerebrospinal samples from Mass General.

Meanwhile, Knopp NeuroSciences is mapping out its options including raising $2 million from investors and looking at potential development partners.

"As far as commercialization is concerned, we are exploring different options with Ciphergen Diagnostics," said Tom Petzinger, Knopp NeuroSciences Interim CEO. "We think the market potential for a diagnostic test that can quickly rule out ALS is pretty compelling. With the SELDI technology, Bob Bowser was able to shed some light on ALS with biomarkers and his discoveries have provided us a window into the wider spectrum of neurodegeneration, where unmet needs abound."