- Study demonstrates alpha-synuclein biomarker can be detected in 93-100% of patients with clinically defined pathologies using simple skin biopsy procedure

- Syn-One Test addresses key unmet needs by supporting accurate diagnoses for patients and serving as a reliable biomarker for clinical trials

CND Life Sciences (CND), a medical technology company pioneering the development of cutaneous neurodiagnostic tests and associated biomarker services, today announced a pivotal peer-reviewed publication entitled, “Skin Biopsy Detection of Phosphorylated α-Synuclein in Patients with Synucleinopathies”¹ in the Journal of the American Medical Association (JAMA). The publication by Gibbons et al. (2024) was a cross-sectional study of patients in academic and community-based neurology practices in people with a clinical diagnosis of Parkinson’s disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and pure autonomic failure (PAF), collectively known as synucleinopathies, and healthy subjects to evaluate the positivity rate of phosphorylated alpha-synuclein (P-SYN) detection through a skin biopsy test.

Supported by the National Institutes of Health (NIH), this blinded, 30-site, 428-patient study has the potential to unlock a new era in diagnostic testing and address urgent unmet needs by reducing common misdiagnoses while enhancing clinical drug development efforts. The primary goal of this study was to define the positivity rate of skin biopsies to detect P-SYN deposition in clinically confirmed cases of PD, MSA, DLB, and PAF. The proportion of patients with P-SYN was 92.7% in those with PD, 98.2% in those with MSA, 96.0% in those with DLB, and 100% in those with PAF. The proportion of healthy subjects with P-SYN was only 3.3%. The results from this study demonstrate the opportunity to use alpha-synuclein detection in cutaneous nerves as a reliable and convenient diagnostic tool for clinical practice and as a quantifiable biomarker to evaluate disease severity and progression.

“This study validates the role of skin biopsy detection of phosphorylated alpha-synuclein as an important diagnostic tool for physicians and patients,” said lead author Christopher Gibbons, MD, Senior Scientific Advisor and Co-Founder of CND Life Sciences and Professor of Neurology at Harvard Medical School. “Accessibility to accurate testing modalities that pinpoint the pathology of these diseases has been a real challenge for both clinical practice and clinical trials, so we are quite pleased to see the strong positivity and specificity results of using skin as a reliable diagnostic method.”

Scientific literature has suggested that synucleinopathies, including PD, may be misdiagnosed over 30% of the time, particularly earlier in the disease course. Furthermore, in a recent study of Medicare patients diagnosed with PD (published in npj Parkinson’s Disease in 2023), barriers to more specialized neurology care have created significant health disparities for patients. Future disease-modifying therapies will require convenient, accurate, and precise diagnostic tools to reach the right patients at the right time across a wide array of communities.

“Detecting phosphorylated alpha-synuclein through cutaneous nerves is a more convenient pathway than other tests requiring spinal fluid or nuclear medicine imaging,” said Todd Levine, MD, Chief Medical Officer of CND Life Sciences and principal investigator on the study. “The Syn-One Test has been ordered by over 1,200 neurologists in 46 states to aid the diagnosis of 20,000 patients in the last few years. By providing objective, visual proof of the known pathological marker of Parkinson’s disease, dementia with Lewy bodies, and other synuclein disorders, the Syn-One Test is truly helping clinicians increase diagnostic confidence and provide better care to patients.”

CND’s research team and collaborators continue to advance the science that underlies the Syn-One Test through a range of exploratory programs and clinical studies focused on early disease detection, biosignatures of specific disease subtypes, and correlations with other neurological biomarkers.

“We believe this is a crucial decade of innovation for the neurodegeneration field, one that will result in major progress in precision diagnostics, new treatments, and more promising futures for patients and families,” noted Roy Freeman, MD, Senior Scientific Advisor and Co-Founder of CND Life Sciences and Professor of Neurology at Harvard Medical School. “The publication of this important NIH-sponsored study is one big step forward with many more milestones to come.”

About CND Life Sciences

CND Life Sciences is dedicated to supporting the care of patients facing the potential diagnosis of a neurodegenerative disease and other neurological conditions. Operating a CLIA-certified and CAP-accredited laboratory in Scottsdale, Arizona, CND launched the Syn-One Test^® in 2019 as the world's first commercially available test to detect, visualize, and quantify phosphorylated alpha-synuclein located in cutaneous nerves. This laboratory-developed test analyzes three small skin biopsies collected from the patient in a physician’s office through a 15-minute minimally invasive procedure and includes an assessment of intraepidermal nerve fiber density and other important pathologic evaluations in the skin. The Syn-One Test is supported by technology and expertise licensed from Beth Israel Deaconess Medical Center in Boston through the Center for Autonomic and Peripheral Nerve Disorders and the research laboratory of Dr. Roy Freeman and Dr. Christopher Gibbons. The Company has research collaborations with multiple biopharmaceutical companies. It has been awarded three prestigious NIH SBIR grants to advance the validation and clinical utility of its Syn-One Test, including assessing the test’s ability to provide early disease detection and prognostic insights. For more information, visit cndlifesciences.com or connect with us on LinkedIn.

Disclosure: Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke and the National Institute on Aging (NIA) of the National Institutes of Health under Award Numbers R44NS117214, R44AG076072, and R44NS127696. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

¹Gibbons CH, Levine T, Adler C, et al. Skin Biopsy Detection of Phosphorylated α-Synuclein in Patients With Synucleinopathies. JAMA. Published online March 20, 2024. doi:10.1001/jama.2024.0792

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