NeuroDiagnostics Identifying
Alzheimer's disease With Precision

Since its first recorded case back in 1906, Alzheimer’s disease (AD) has remained an elusive degenerative disease of the brain, striking 3-4% of patients with an early onset who have a dominant, highly penetrant gene and most others with exponentially rising incidence after the age of 65. AD still does not have a cure or an accurate diagnostic since its emergence over a century ago. The world population is aging, with life expectancy increasing from 30 to 70 years of age by the end of the 20th century; AD has become a global healthcare crisis. In its attempt to find effective approaches to diagnosis and treatment, the healthcare sector’s major focus for the past three decades has been on the pathologic hallmarks in the brain called amyloid plaques and neurofibrillary tangles, whereas these markers are only definitely confirmed at autopsy. However, even after investing tens of billions of dollars on pre-clinical research and numerous failed clinical trials, healthcare professionals and drug developers have yet to find a breakthrough using the plaque and tau focus on AD treatment and diagnosis. Fortunately, start-up ventures like Maryland-based, NeuroDiagnostics (NDx) has developed, tested, and is now marketing an innovative, safe, and reliable biomarker technology-based DISCERN test that is set to revolutionize the way doctors diagnose AD. “Based on research conducted by teams led by our Chief Scientific Advisor, Dr. Daniel Alkon, we have developed a simple test (DISCERN) which requires a minimally-invasive skin-punch biopsy procedure, analyzed in our CLIA-certified laboratory to give doctors and patients a highly accurate diagnosis of AD,” states Frank Amato, CEO at NeuroDiagnostics.

Revolutionizing AD Diagnosis with Unparalleled R&D

Founded in 2016, NeuroDiagnostics is a cutting-edge commercial-ready start-up with a three-biomarker assay technology, developed through more than two decades of research led by veteran researcher Daniel Alkon, MD, at the NIH and the Blanchette Rockefeller Neuroscience Institute (BRNI) in West Virginia. “Our extensive research with collaboration from the Harvard Brain Tissue Research Center (HBTRC) enabled us to back our technology with the highest safety and accuracy standards in autopsy validation,” adds Dr. Alkon.

Through more than a decade of research we have developed a simple test (DISCERN) which requires a minimally-invasive skin-punch biopsy procedure, analyzed in our CLIA-certified laboratory to give doctors and patients a highly accurate diagnosis of AD

In fact, through their comprehensive effort into developing an AD diagnostic tool, the team at NeuroDiagnostics has identified a relationship between skin and brain cells for the detection of AD. NDx has also uncovered genomic profiles for late-onset AD and potentially therapeutic drug targets. A primary molecular NDx target, PKC epsilon, has been directly linked to the gene ApoE 4, and a major risk factor for the 97% of AD cases that occur as human beings age – also called Sporadic AD.

Demystifying AD Diagnosis

Conventionally, the diagnosis of AD has depended on a combination of PET Imaging and spinal taps for the collection of cerebrospinal fluid—but with limited accuracy. According to Amato, AD treatment and diagnostics have remained static over the last two decades. Physicians are unable to accurately diagnose the cause for a patient’s dementia due to the lack of accurate tools that can detect AD. This issue of misdiagnosis and the subsequent healthcare expense is a huge problem. There are 530,000 dementia patients diagnosed each year in the US, but only 65 percent arecaused by AD, the rest are demented due to other causes. He further mentions, “The lack of highly accurate diagnostic tests for AD also leads to subsequent mishandling of the dementia population especially those who are not suffering from AD, but potentially other very treatable disorders such as Lyme’s Disease, B-12 deficiency, hypothyroidism, depression, and others.” With its unique biomarker technology that has shown high accuracy in autopsy-validated clinical trials, NDx can help the healthcare community unequivocally detect both AD and non-AD dementias, thereby minimizing the billions of wasted healthcare dollars spent each year looking for an accurate diagnosis.

Powering through the Pandemic

More recently, as the world comes to grips with handling the impacts of the COVID-19 pandemic, NDx has recognized the challenges doctors face in the delivery of care for their patients. And in doing so, the company has developed services to allow healthcare professionals to safely collect patient samples from the comfort of their homes and consult with their physicians over digital media. From an organizational standpoint, NDx achieved a recent significant milestone when it received product specific codes from the American Medical Association for the DISCERN test. With these HCPCS codes under its belt, NDx was also awarded gap-fill status by the Centers for Medicare & Medicaid Services (CMS), which has set the company on a path to potentially have its test become the first AD diagnostic that is covered by the Medicare insurance. “The pandemic may have created issues for the way doctors provide procedures, but we have taken the steps to support them through these turbulent times. On the other hand, the HCPCS codes and CMS recognition have put us on track to become the go-to AD diagnostic tool for doctors across the U.S.,” extols Amato.

Enabling Quick Neurodegenerative Disorder Diagnosis

Presently, the U.S. has nearly six million AD patients, which is a number that could triple in the coming decades. At the same time, each year, the U.S. diagnoses 530,000 dementia patients that may not be treated effectively due to the lack of definitive diagnostic tools. With NDx’s DISCERN test, Amato wants to transform AD diagnosis and significantly reduce the potential for misdiagnosis by helping to equip clinicians with the tools they need, getting patients the answers they need, and greatly reducing the exorbitant expenditure of healthcare resources.

Moving forward, NeuroDiagnostics aims to scale up its operations to markets beyond the U.S. and move to the global stage. From a portfolio standpoint, the company plans to conduct additional R&D with its biomarker technology for the potential diagnosis of other neurodegenerative conditions. At the same time, the company is also developing a blood-based diagnostic as they move into 2021. To conclude, Amato reiterates the core mission behind NeuroDiagnostics, “We are poised to help transform the way clinicians and drug developers approach the management and treatment of AD, and we are continually working with the medical community to bring DISCERN to all the physicians and patients who need it.”