Collaborative Initiative for Research on Healthy Mutation Carriers

Since the start of systematic prion disease research, diagnostic advancements have significantly improved.

Seeded Amplification Assays (e.g. PrPSc, PrPSc Real-Time Quaking-Induced Conversion) have enhanced clinical accuracy, and blood-based biomarkers are nearing clinical use.

In recent years, new biomarkers have been indentified to assess preclinical disease activity, using easily accessible samples like olfactory mucosa, skin, tear fluids, and plasma.

While clinical diagnoses can be very precise, ongoing research into biomarkers remains essential, especially for detecting preclinical abnormalities through non-invasive methods.

This project focuses on exploration of biomarkers that predict prion disease onset or track its progression, critical for future therapeutic trails.

Individuals at risk (healthy mutation carriers) are seen in open protective clinical registries at our centers.

Our approach may redefine how we view disease onset and risk, opening new avenues for trial designs, risk calculation and disease monitoring.