Matthias Schmitz

Key facts

• 2024 grants: Kong (NPDPSC) ADAM8-based gene therapy; Schmitz (Goettingen) tear fluid diagnostic; Schmitt-Ulms (Toronto) small brain-penetrant molecule that reduces PrPC and mouse models of spontaneous prion emergence; Castilla (CIC bioGUNE) dominant-negative protein-based gene therapy; Aguzzi and Caredio (Zurich) GPNMB as therapeutic target; organoids from sporadic CJD donors (RML postdoc).
• Holds the CJD Foundation grant for validation of tear fluid RT-QuIC; the first-year report covers April to December 2024.
• The report states 84 percent sensitivity in sporadic CJD (27 of 32), 70 percent in genetic prion disease (7 of 10) and 99.5 percent specificity (1 of 184 controls positive) with a full-length E200K substrate.
• Tear seeding activity was stable for five days at room temperature.
• Aims include longitudinal monitoring and detection in asymptomatic PRNP mutation carriers.
• The related January 2026 paper reports the substrate raising CSF sensitivity in sporadic CJD from 71 to 92 percent.

Timeline

1. 2024Grant year begins.
2. 2024End of the first grant year.
3. 2026E200K substrate paper published.