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 And research published in 2002 estimates the incidence of Parkinson’s to be 60,000 to 95,000 cases per year among adults ages 45 and older, significantly higher than previously reported estimates of 40,000-60,000 new cases per year.2
While the challenges presented by neurogenerative diseases can feel insurmountable, I think that we are moving closer to truly effective treatment options. But one major hurdle still exists: 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 minimally 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. The 15-minute procedure can be performed in-office by any licensed healthcare professional.
In data from an NIH-funded study presented at the 2023 meeting of the American Academy of Neurology, the Syn-One Test demonstrated >95% sensitivity and specificity,3 the highest accuracy of any alpha-synuclein biomarker test to date. CND is currently evaluating the utility of the Syn-One Test for distinguishing between the synucleinopathies and to distinguish dementia with Lewy bodies from Alzheimer’s disease in the early stages of mild cognitive impairment.
The skin punch biopsy is an effective, reliable, non-invasive test to detect the proteins implicated in various neurodegenerative disorders, and we hope that it can provide momentum toward finding a cure for these diseases. In fact, over a thousand clinicians across the US have used this minimally invasive test to aid in their diagnosis of these synucleinopathies for more than 15,000 patients.
References:
- 2022 Alzheimer’s disease facts and figures. Alzheimers Dement. 2022;18(4):700-789. doi:10.1002/alz.12638
- Willis AW, Roberts E, Beck JC, et al. Incidence of Parkinson disease in North America. NPJ Parkinsons Dis. 2022;8(1):170. Published 2022 Dec 15. doi:10.1038/s41531-022-00410-y
- Gibbons CH, Levine T, Bellaire B, et al. The Synuclein-One Study: Skin biopsy detection of phosphorylated alpha-synuclein for diagnosis of synucleinopathies. Neurology. 2023;100(17 suppl 2). 2023 Annual Meeting Abstracts
