Insights

Minimally Invasive, Maximally Important

By April 30, 2020 May 20th, 2020 No Comments

Minimally Invasive, Maximely Important

Todd Levine, MD – Founder & Medical Director

Neurodegenerative diseases like Parkinson’s and dementias continue to represent some of the most significant threats to human health and the healthcare system at large. Between 2000 and 2018, deaths from heart disease increased by 8% in the US while deaths from dementia increased by 146%. The current estimates are that 1 in 3 Americans will die of a neurodegenerative disease and that the cost to the healthcare system in 2050 will exceed $1 trillion.

While this can feel like an insurmountable problem, I think that we are moving closer to truly effective treatment options. But one huge problem exists in neurodegenerative diseases: having a reliable and effective way to diagnose and track these diseases. Today more than any other time we realize the need for rapid, safe, and effective testing measures, as we hear news every day related to COVID-19. And only when researchers can identify, treat, and track a disease can we begin to truly change its course. The neurodegenerative diseases, however, are more complex than COVID-19 because unlike a nasal swab or blood test that we can use to detect viruses, the only way to be certain about a diagnosis of Parkinson’s disease or dementia has been to look at a piece of the brain. And for obvious reasons, obtaining brain tissue is typically not done during life. In fact, large autopsy studies of Parkinson’s disease and dementia patients indicate that the misdiagnosis rate may be as high as 30% even in the best of hands. So until we have a safe, reliable, minimally invasive test for these diseases, our clinical trials will be muddled with patients who don’t have the diseases we are treating, and as clinicians we will be wrong too often about the diagnoses we make, the prognoses we deliver, and the drugs we choose to treat our patients.

The concept of a minimally invasive test for neurodegenerative diseases is not a new one. Many in our field have called it the holy grail. For decades scientists have looked for biomarkers in the blood and spinal fluid. Researchers have tried to use highly advanced radiographic methods to image the changes in the neurons in the brain. Yet these tests have lacked sensitivity and specificity, meaning that they often missed people with the diseases or found results consistent with the diseases in people that didn’t have them.

The challenge, however, has been that because these diseases occur within nerves, blood tests have not been an effective way to measure the changes inside the nerves or brain. At CND Life Sciences, we have developed the first commercially available test to look inside the nerves of the body and identify the proteins that accumulate in patients with Parkinson’s disease, dementia with Lewy bodies, multiple system atrophy, and pure autonomic failure–a group of diseases known as the synucleinopathies. These diseases share a common pathologic step in which an abnormally folded form of protein called alpha-synuclein accumulates within the nervous system. This abnormal protein is seen only in patients with a synucleinopathy. Our relatively non-invasive skin biopsy (a punch biopsy with no stitches) can allow physicians to know if these proteins are accumulating within a patient’s nerves.

We believe the skin punch biopsy is an effective, reliable, non-invasive test to detect these proteins, and we hope that it can provide momentum toward finding a cure for these neurodegenerative diseases. And in fact, clinicians are already using this minimally invasive test to aid in their diagnosis of these synucleinopathies.

References
Alzheimer’s Association. www.alz.org