Skin Biopsy Test Offers Hope for Earlier Diagnosis of Parkinson’s, Lewy Body Dementia

By Patrick Walker

For millions worldwide, the journey to diagnosis for neurodegenerative diseases like Parkinson’s and Lewy Body Dementia can be long, frustrating, and filled with uncertainty. Now, a new, minimally invasive skin biopsy test is offering a glimmer of hope for faster, more accurate diagnosis, potentially opening doors to earlier intervention and improved patient care.

CND Life Sciences recently announced that over 50,000 Syn-One Tests have been completed, providing valuable data on its efficacy. The test identifies abnormal clumps of alpha-synuclein protein—a hallmark of synucleinopathies—in nerve fibers found in skin samples. While not a cure, earlier identification allows patients to access support, manage symptoms, and participate in clinical trials sooner.

How the Test Works & What the Research Shows

The Syn-One test is a relatively simple procedure. A small skin sample is obtained, processed in a specialized laboratory, and analyzed for the presence of phosphorylated alpha-synuclein. Research published in JAMA Neurology demonstrates the test boasts a sensitivity of 96.3% and a specificity of 92.1% in identifying patients with synucleinopathies. This means the test accurately identifies nearly all patients who have the disease while minimizing false positives.

“The diagnostic odyssey for these conditions can take years, involving numerous tests and specialist visits,” explained one neurologist, who requested anonymity. “A test that can reliably identify abnormal alpha-synuclein in a simple skin sample is a significant step forward.”

Recent findings from a study conducted at the Mayo Clinic, published in Neurology, support these claims. The study, involving over 500 patients, found that the Syn-One test led to diagnostic changes in 58% of cases and prompted management changes – such as medication adjustments or referrals – in 52%.

The Diagnostic Landscape & Competitive Alternatives

Currently, diagnosing synucleinopathies relies heavily on clinical assessment, imaging tests like DaTscan (which indirectly indicates dopamine neuron loss), and cerebrospinal fluid (CSF) analysis. However, these methods have limitations. DaTscan isn’t always conclusive, and CSF analysis is more invasive and may not be readily available.

“The CSF test can be helpful, but it’s not always feasible for patients, and the sensitivity isn’t as high as we’d like,” noted a researcher specializing in neurodegenerative disease biomarkers. “The skin biopsy is a much simpler procedure and offers a more accessible alternative.”

Other companies, like BioLegend and Thermo Fisher Scientific, are developing competing diagnostic assays for alpha-synuclein. However, the Syn-One test currently stands out as one of the few commercially available options with robust clinical validation.

Challenges & Future Directions

Despite the promising results, several challenges remain. The Syn-One test is classified as a Laboratory Developed Test (LDT), meaning it hasn’t undergone the same rigorous pre-market review as FDA-approved tests. This can create hurdles in terms of insurance coverage and reimbursement.

“Insurance coverage is a major concern,” said one patient advocate who works with families affected by Parkinson’s disease. “Many patients are forced to pay out-of-pocket for the test, which can be a significant financial burden.”

Furthermore, the long-term impact of earlier diagnosis on disease progression remains unknown. While identifying abnormal alpha-synuclein is a crucial step, it doesn’t address the underlying causes of these diseases.

CND Life Sciences is actively working to address these challenges. The company is developing a point-of-care version of the test, which would allow for faster results and wider accessibility. They are also conducting further research to understand the relationship between alpha-synuclein levels and disease progression.

Impact on Patients and Caregivers

For patients and caregivers, the potential benefits of earlier diagnosis are immense. Knowing what they’re facing allows them to access appropriate support, plan for the future, and participate in clinical trials that may offer hope for a cure.

“For years, I felt like I was constantly running into dead ends trying to get a diagnosis,” shared a patient diagnosed with Lewy Body Dementia after undergoing the Syn-One test. “Finally having a clear answer has been incredibly empowering.”

While the Syn-One test isn’t a magic bullet, it represents a significant advance in the fight against synucleinopathies. By providing a faster, more accurate way to diagnose these debilitating diseases, it offers hope for a brighter future for millions of patients and their families. The potential for earlier intervention, combined with ongoing research into disease-modifying therapies, could fundamentally change the landscape of neurodegenerative disease care.

Resources:

• Parkinson’s Foundation: https://www.parkinson.org/
• Lewy Body Dementia Association: https://www.lbda.org/
• CND Life Sciences: https://www.cndlifesciences.com/