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Minimally Invasive, Maximally Important

By February 16, 2023August 29th, 2023No Comments

Minimally Invasive, Maximally Important

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 2019, deaths from heart disease decreased by 7% in the US while deaths from dementia increased by 145%.1 The economic burden of Alzheimer’s will increase from $321 billion in 2022 to just under $1 trillion in 2025.1

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. Only when researchers can identify, treat, and track a disease can we begin to truly change its course.

The diagnostic process for neurodegenerative diseases can be long and complex. 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 while a person is alive.

Large autopsy studies of patients with Parkinson’s disease and dementia 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 who didn’t have them.

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, pure autonomic failure, and REM sleep behavior disorder—a group of diseases known as the synucleinopathies. These diseases share a common pathologic step in which an abnormally folded form of a protein called alpha-synuclein accumulates within the nervous system. This abnormal protein is seen only in patients with a synucleinopathy.

The Syn-One Test®, our relatively non-invasive skin biopsy (a punch biopsy with no stitches required) can provide visual proof to physicians that these proteins are accumulating within a patient’s nerves. In data presented by Gibbons et al at the 2020 meeting of the American Academy of Neurology, the Syn-One Test demonstrated >95% sensitivity and specificity.*

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. In fact, hundreds of clinicians across the US are already using this minimally invasive test to aid in their diagnosis of these synucleinopathies.

  1. 2022 Alzheimer’s disease facts and figures. Alzheimers Dement. 2022;18(4):700-789.

*Based on internal QI/QA data and data presented by Gibbons et al at the 2020 AAN (for patients with a clinically established synucleinopathy excluding RBD). Gibbons C. Wang N. Rajan S. et al. Cutaneous alpha-synuclein deposition across the synucleinopathies. Neurology. 2020:94(suppl15). American Academy of Neurology abstract 1886.