By Frank Amato
Alzheimer’s Disease (AD) is a progressive brain disease causing changes an individual’s mind by altering their thinking patterns, memory, reasoning and even behavior. Dementia is the word used to describe these kinds of symptoms, which is why dementia and AD are frequently confused. AD is the most common cause of dementia, making up 60-80% of dementia cases, with more than half of people with dementia also having mixed-dementia, or a combination of conditions other than AD that also contribute to the dementia symptoms.
Developing AD is not a normal part of the aging process, but rather complicated changes in the brain that likely occur years before symptoms present themselves. AD is the most well-known type of dementia, but there are many others, such as Lewy body dementia, vascular dementia and Huntington’s disease.
Diagnosing AD is a long process for many clinicians and patients. Physicians have faced adversity when caring for dementia patients as they lack the proper diagnostic tools to properly test and diagnose AD. Additionally, testing is frequently associated with high costs, highly inaccurate invasive procedures.
Synapses and Neurons
As people age, they develop amyloid plaques and tau tangles, which are deposits of protein fragments. These fragments, especially plaque, often develop in between the spaces of the nerve cells. Whereas the tangles form twisted protein fibers, which are found inside cells.
According to the Alzheimer’s Association, the presence of plaque and tau are hallmarks of AD at death, but do not necessarily correlate with decreased cognitive function in life. While they may be present in individuals with AD, it is now believed that the loss of activity of synapses and ultimately neurons is what is truly causing memory loss, behavioral changes and difficulty performing daily activities. There are many risk factors that contribute to the possible development of AD, including age, inflammation, genetics and presence of amyloid plaque and tau tangles. Age also plays a large role, but many people reach their 90s and older with significant amounts of amyloid plaque present at autopsy, without experiencing dementia.
Importance of Early and Definitive Diagnosis
In a recent survey, a majority of healthcare personnel were unsatisfied with the current approach to diagnosing AD. This is because standard testing is highly subjective and does not definitively diagnose AD, causing many patients to go years without a proper diagnosis as well as spending unnecessary money to find the root cause of their symptoms. According to the Alzheimer’s Association 50-70% of people presenting with symptoms of dementia are misdiagnosed in the primary care setting. The misdiagnosis rate drops to 25%-30% in specialty clinics. With new drugs to treat AD on the horizon, the current diagnostic pathway needs to be reassessed along with greater access to the tools to more accurately diagnose AD in the community setting. Drugs targeting AD at early onset of symptoms may be coming to the market soon. These have demonstrated a modest slowing of progression of AD symptoms, albeit with safety concerns and a potentially high patient financial and treatment burden. Physicians surveyed indicated that they would be four times more likely to prescribe these new treatments if they were confident in the diagnosis of AD.
A breakthrough has been made with a new available diagnostic test that is the first, minimally invasive skin test to inform a clinician’s definitive diagnosis of AD and other dementias. This test – DISCERN™– assesses several critical factors directly related to AD that regulate memory, the formation of synaptic connections among neurons and the levels of amyloid plaques and tau in the brain. This breakthrough test has the capacity to close the gaps of current testing in the community setting, with a simple skin punch biopsy performed in a clinician’s office.
Testing for an Accurate Diagnosis
Receiving a definitive diagnosis is essential for accurate and effective treatment for the patient. Having a diagnosis puts a name to the symptoms and helps ease the mental burden on the patient, their family and their caregivers. The earlier the disease is diagnosed, the longer the patient has to make decisions about their future and slow or stop the progression of the disease with recommended treatments or medications best suited for them.
This new breakthrough testing for AD allows physicians to offer patients a new and highly reliable diagnostic test with minimal financial strain for patients insured through Medicare, even in those recently diagnosed with dementia. This gives the physicians a chance to see their patients, administer the test and determine whether the patient has AD or not. Physicians can expect to make more conclusive diagnoses as the test has three assays that have each shown to have over 95% sensitivity and specificity. Additionally, payers will have the ability to create protocols and prior authorizations to organize the prescribing and reimbursing of treatment.
This test is a stepping stone to a patient with AD finding the diagnosis and receiving treatment to maintain their quality of life as long as possible. It assesses synaptic loss and can be used as a tool towards future treatments. It can pinpoint the specific degeneration biomarker that is used to identify AD, as well as discovering other degenerative diseases.
The use of this test not only improves the outlook of the patient’s health but eases the job of the physician by giving them an obtainable test to choose treatments that will best benefit their patients.
Frank Amato is president & CEO, SYNAPS Dx. SYNAPS Dx is a privately held company focused on the research, development and commercialization of a diagnostic test for Alzheimer’s disease (AD). The Company offers DISCERN™, the first highly accurate, minimally invasive test supporting a clinician’s definitive diagnosis of AD versus other forms of dementia, even in people recently diagnosed with dementia. SYNAPS Dx’s laboratory is certified under the Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing. Physicians and patients seeking more information can visit https://discernt