Proteomic Biomarkers for Lysosomal Storage Disorders
A cross-disciplinary team spanning Stockholm, Cape Town, and Singapore mapped plasma proteomic signatures to enhance early detection and treatment monitoring for lysosomal storage disorders (LSDs).
Study Highlights
Using mass spectrometry, researchers profiled 1,200 proteins across Gaucher, Fabry, and Pompe cohorts versus healthy controls.
Diagnostic AUC
Panel reached 0.94 area under the curve, outperforming traditional biomarkers in early disease detection.
Therapy Monitoring
Protein signatures correlated with substrate reduction therapy response in Fabry disease.
Data Accessibility
Open repository hosts anonymized proteomic matrices and clinical metadata.
Methodological Insights
Quantitative tandem mass tag (TMT) labeling captured dynamic protein changes post-therapy. Machine learning models (elastic net, random forest) selected minimal marker sets.
- • Cross-validation ensures robustness against cohort imbalance.
- • Integration with genomics reveals modifier genes impacting biomarker levels.
- • Quality control pipeline shared via GitHub for reproducibility.
Participating Centers
- Karolinska Institute, Sweden
- University of Cape Town, South Africa
- National University Hospital, Singapore
- Mount Sinai Lysosomal Program, USA
Ethics approvals include community consultations with patient advocates.
Clinical Impact & Next Steps
Pilot labs in Ghana and Vietnam adopt the biomarker panel through portable mass spec units, improving time-to-diagnosis by 45%.
- • Validation cohorts in Latin America and the Middle East launching 2025.
- • Collaboration with newborn screening programs to translate markers into dried blood spot assays.
- • Implementation toolkit released for labs transitioning to proteomics workflows.