A recent National Institutes of Health (NIH)-sponsored clinical trial has demonstrated the effectiveness of a skin biopsy test in detecting the presence of alpha-synuclein protein clumps associated with Parkinson's disease and related conditions. The test, known as the Syn-One Test, successfully identified the toxic aggregates of phosphorylated alpha-synuclein in over 90% of the enrolled patients.

Led by Dr. Roy Freeman, senior scientific advisor and co-founder of CND Life Sciences, the study showcased the significant potential of this innovative diagnostic tool. The findings were published in the Journal of the American Medical Association under the title, "Skin Biopsy Detection of Phosphorylated α-Synuclein in Patients With Synucleinopathies."

The accumulation of alpha-synuclein into clumps, called Lewy bodies, is a defining characteristic of Parkinson's disease, as well as related conditions such as Lewy body dementia, multiple system atrophy, and pure autonomic failure. Collectively, these disorders are known as synucleinopathies. The toxic clumps contribute to the death of nerve cells.

Early diagnosis plays a crucial role in providing appropriate neurological care for patients with these conditions. However, more than 30% of cases, especially in the early stages, are misdiagnosed. Furthermore, existing diagnostic methods, such as spinal taps that require the collection of cerebrospinal fluid, are invasive and not always convenient for patients.

The Syn-One Test offers a less invasive approach. Skin biopsies, taken from the neck, thigh, and calf, are analyzed to determine the presence of phosphorylated alpha-synuclein in nerve fibers. The NIH-funded Synuclein-One Study (NCT04700722) aimed to evaluate the test's ability to detect alpha-synuclein clumps.

The study included 96 Parkinson's patients, 127 individuals with various synucleinopathies (including multiple system atrophy, Lewy body dementia, and pure autonomic failure), and 120 individuals with no known neurological disease who served as controls. The results revealed a high positivity rate for the Syn-One Test, with 92.7% of Parkinson's patients, 98.2% of multiple system atrophy patients, 96% of Lewy body dementia patients, and 100% of pure autonomic failure patients testing positive. In the control group, 96.7% of participants tested negative.

Dr. Christopher Gibbons, senior scientific advisor and co-founder of CND Life Sciences, expressed the significance of this study in terms of improving diagnostic tools for physicians and patients. He emphasized the challenges faced in accurately pinpointing the pathology of synucleinopathies and the importance of accessible testing modalities.

CND Life Sciences and their academic partners are committed to further developing and enhancing the Syn-One Test. Ongoing research is focused on improving early disease diagnosis, studying correlations with neurological biomarkers, and identifying specific disease subtypes.

The Syn-One Test has garnered substantial interest from the medical community, with over 1,200 neurologists from 46 states ordering the test to aid in the diagnosis of approximately 20,000 patients within the past few years. By providing objective evidence of the pathological marker of Parkinson's disease and other synuclein disorders, the Syn-One Test not only increases diagnostic confidence but also enables clinicians to provide better care to their patients.

The publication of this NIH-sponsored study marks a significant step in the field of neurodegeneration, paving the way for precision diagnostics, new treatments, and a more promising future for patients and their families.