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Dr. Matthias Schmitz

Grant Title: Validation of a non-invasive diagnostic test for prion diseases using tear fluid

Location: Dementia Research Unit, Dept. of Neurology in Göttingen, National Reference Center for TSE and German Center for Neuro-degenerative diseases, Germany

Grant Year: 2024
The real-time quaking-induced conversion (RT-QuIC) assay is a worldwide used, accurate laboratory test for detection of minuscule amounts of misfolded proteins in body fluids. The detection of pathological prion proteins in the cerebrospinal fluid (CSF) by using RT-QuIC assay became a standard method to confirm the clinical diagnosis of prion diseases, such as Creutzfeldt-Jakob disease.  Gaining CSF usually by lumbar puncture is an invasive medical procedure; therefore, it is less appropriate for follow-up and treatment studies when samples at different time points from the same patient are needed. 

Due to modifications of the standard RT-QuIC protocol, we can now reliably detect pathological prions in tear fluid (TF) collected by using a simple paper strip from the patient eyes. 

In our project, we aim to validate our TF-RT-QuIC method by testing a big patient cohort. This can enable us to implement this assay as a new non-invasive, therefore for the patient less demanding and more cost-effective laboratory test. Additionally, we intend to examine the suitability of TF-RT-QuIC for predicting the disease onset and progression, which may open new perspectives for further understanding the mechanisms of prion disease development and searching for medical treatments. 

About the Researcher:

Matthias Schmitz received his PhD at the Max-Planck Institute for experimental Medicine in Goettingen. His postdoctoral training at the University Medical Center of Goettingen (Germany) started in 2007 before he finished his habilitation in 2019.

During this time, Matthias Schmitz published extensively in the field of prion diseases and other neurodegenerative diseases. He made substantial contributions to biomarker research in cerebrospinal fluid and other peripheral body fluids. His current work focuses on the development of a reliable and accurate test system for prion disease diagnostic, prognosis as well as in monitoring disease progression. He plans to optimize the prion aggregation assay, RT-QuIC, for the detection of pathological prions in tear fluid.

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