Syn-One Test Displays Significant Clinical Utility for the Diagnosis of Synucleinopathies

Jonathan R. Isaacson, MD

(Credit: LinkedIn)

In a newly published study, skin biopsy detection of phosphorylated α-synuclein using the Syn-One Test (CND Life Sciences) demonstrated a high level of clinical utility, leading to changes in clinical diagnosis and treatment among patients with suspected synucleinopathies such as Parkinson disease (PD), multiple system atrophy (MSA) and Lewy body dementia (DLB).¹ Published in Frontiers in Neurology, these findings highlight the important role of this diagnostic test in facilitating referrals to medical specialties and rehabilitation disciplines such as physical, occupational and speech therapy.

In the study, use of the Syn-One test led to changes in clinical care by 78% of patients, including diagnostic changes in 66% and treatment modifications in 55%, regardless of whether the biopsy result was positive or negative. Diagnostic changes were most frequent among patients with parkinsonism and prominent action tremor (93%), postural instability and gait difficulties (90%), and parkinsonism with significant cognitive dysfunction (76%).

“Parkinson’s disease and related disorders are often misdiagnosed or face delays in diagnosis, particularly in the early stages or in atypical forms of parkinsonism. Our study demonstrated that synuclein skin biopsy influenced the diagnosis or management in 78% of cases, underscoring the potential of the Syn-One test to change the paradigm in diagnosing these conditions, providing greater clarity, and ensuring patients receive appropriate care and treatment options," Jonathan R. Isaacson, MD, who led the study at the Center of Autonomic and Peripheral Nerve Disorders at Beth Israel Deaconess Medical Center (BIDMC), told NeurologyLive^®.

In this study, investigators conducted a retrospective chart review of patients who underwent skin biopsy for the Syn-One Test at a tertiary care academic institution. The test, used to detect the abnormal form of α-synuclein, aimed to evaluate changes in diagnosis and medical management based on the detection of phosphorylated α-synuclein. For the analysis, researchers included 97 patients suspected to have a synucleinopathy which included 54 patients with PD, 19 patients with DLB, and 24 patients with MSA.

"For too long, neurologists have needed a simple, accurate test to help diagnose Parkinson's disease, dementia with Lewy bodies and other related disorders," Todd Levine, MD, chief medical officer at CND Life Sciences, said in a statement.¹ "This study shows that by examining nerves in the skin, the Syn-One Test® fulfills that need, and contributes to clinical practice and decision making. Importantly, it builds on evidence from our previous study, which validated the accuracy of the Syn-One Test and its use as an essential diagnostic tool for physicians and their patients."

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This study had several limitations, including its retrospective design, small sample size, and reliance on chart reviews, which might have introduced bias in interpreting clinical results. The study did not assess the relative contribution of other diagnostic methods, such as biofluid tests or imaging. Additionally, the impact of test results on the doctor-patient relationship and other social or emotional factors may require further investigation. Finally, since the study was conducted at a large academic center, its findings may not be generalizable to broader populations.

"In this manuscript, we show how cutaneous detection of alpha-synuclein with a simple skin biopsy, when used in our tertiary care, academic medical center, informs clinical decision making and improves patient care," coauthor Roy Freeman, MD, professor of neurology, director of the Center for Autonomic and Peripheral Nerve Disorders at BIDMC, said in a statement.¹ "This important evidence supports how this test can become a useful diagnostic tool in community settings to evaluate patients with signs and symptoms of these challenging diseases and triage them to more specialized care when needed."

Sameea Husain-Wilson, DO, a neurologist and director of movement disorder neurology at the Marcus Neuroscience Institute of Baptist Health, has been using the Syn-One test for several months at her institution. In a recent interview with NeurologyLive®, she discussed the utility of the test, and why its ability to quantify the presence or absence of α-synuclein is critical for movement disorder specialists worldwide. Additionally, she provided context on the test’s function to distinguish PD from other synucleinopathies, highlighting how some of the subtle, early differences are crucial to ensuring accurate diagnosis.

REFERENCES
1. CND Life Sciences Announces Publication of Study Demonstrating Clinical Utility of the Syn-One Test® as an Important Aid in the Diagnosis and Treatment of Neurodegenerative Diseases. News Release. Published December 18, 2024. Accessed December 18, 2024. https://cndlifesciences.com/syn-one-clinical-utility-study/