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Mayo Clinic has developed and launched a revolutionary diagnostic test, RT-QuIC Prion, CSF, aimed at distinguishing prion disease from other rapidly progressive dementias. This advancement is particularly significant in differentiating Creutzfeldt-Jakob disease (CJD) from autoimmune-related dementias and rapidly progressing forms of Alzheimer’s disease.
Dr. John Mills, co-director of Mayo Clinic’s Clinical Neuroimmunology Laboratory, emphasized the importance of a timely and accurate diagnosis for patients suffering from rapidly progressive dementias—conditions in which functional independence is lost within two years of symptom onset.
“In the early stages, these conditions present with nonspecific symptoms, making definitive diagnosis challenging. Identifying the correct cause quickly is critical because some forms, like autoimmune-driven dementia, are treatable,” Dr. Mills explained.
A Breakthrough in Prion Disease Diagnosis
Prion diseases, including CJD, result from the misfolding of a normally occurring prion protein. This misfolded protein propagates in the brain, leading to severe neurodegeneration with no known cure. Until now, laboratory tests for CJD have been largely indirect, detecting markers of neuronal damage but failing to pinpoint the root cause.
The development of the RT-QuIC assay represents a major milestone. This test is the first to provide a highly accurate, specific diagnostic result for prion disease while the patient is still alive. Previously, a definitive diagnosis was often only possible through postmortem brain autopsy.
Enhancing Laboratory Safety and Efficiency
Unlike earlier diagnostic methods requiring brain biopsies, the RT-QuIC Prion, CSF test relies on cerebrospinal fluid (CSF), significantly reducing transmission risks for laboratory personnel. To facilitate the safe processing of these specimens, Mayo Clinic constructed a specialized biosafety level 2+ (BSL-2+) laboratory, integrating engineered safety controls and automation to enhance both safety and efficiency.
Ellen Lexvold, technical specialist coordinator at Mayo’s Neuroimmunology Lab, played a key role in developing this new space. “We had to tailor the lab to include seamless floor tiles, corrosion-resistant steel tables, and a negative pressure airflow system. It was like building an airplane while flying it,” she noted.
A Global Effort in Advancing Diagnostics
The Mayo Clinic team traveled to Rocky Mountain Laboratories (RML) in Montana to learn the RT-QuIC technology firsthand. RML, a premier biomedical research facility, pioneered this assay in 2010 and remains selective about who they train in its use. “They ensure only qualified personnel implement RT-QuIC, requiring onsite training and performance assessments,” said Dr. Mills.
Upon returning to Rochester, the Mayo team spent over two years refining the test for clinical use, including integrating automation to streamline the traditionally manual assay process. “We needed a system that fit within a biosafety cabinet to ensure maximum safety. Our lab staff embraced the challenge, demonstrating the Mayo Clinic spirit of innovation,” said Dr. Mills.
A Faster Path to Answers
Before Mayo’s test launch, the only clinical RT-QuIC test in the U.S. was offered by the National Prion Disease Pathology Surveillance Center (NPDPSC) in Cleveland. However, long turnaround times posed a significant challenge for patients and families awaiting answers.
“We recognized the urgent need for faster results. By bringing this test in-house, we can now deliver results in under a week,” Dr. Mills said.
Now, patients with symptoms of rapidly progressive dementia can receive a definitive diagnosis more quickly, allowing clinicians to initiate appropriate care and, in some cases, life-saving treatments.
The Future of Prion Disease Testing
The development of the RT-QuIC Prion, CSF test underscores Mayo Clinic’s commitment to advancing medical diagnostics and improving patient care. “We take on daunting projects if they hold the potential to change lives. This test is a prime example of that dedication,” Dr. Mills concluded.
Disclaimer: This article is for informational purposes only and is not intended to serve as medical advice. Patients experiencing symptoms of rapidly progressive dementia should consult a qualified healthcare professional for diagnosis and treatment options. Mayo Clinic provides this information as a public service and does not endorse any specific medical treatments or decisions without professional consultation.
