Advanced Multi-omics and -System Approaches to Identify Novel Biomarkers for SMA

Endpoints

Primary

Identification of biomarkers that distinguish patients with SMA from healthy controls and differentiate between disease phenotypes (p < 0.05).

Timeframe: through study completion, an average of 2 years

Functional validation of biomarkers in SMA organoids and their association with treatment response

Timeframe: through study completion, an average of 2 years

Identification of biomarkers predictive of clinical disease progression in newborns with SMA (accuracy >80%)

Timeframe: through study completion, an average of 2 years

Secondary (3)

Integrated molecular signatures predictive of treatment response (accuracy >80%).

Identification of ≥3 biomarkers conserved in C. elegans models and associated with phenotypic effects.

Development of a prognostic algorithm based on biomarker levels at neonatal diagnosis (sensitivity/specificity >80%).

Arms and interventions

Patients with a genetic diagnosis of SMA types 1, 2, or 3

Newborns diagnosed with SMA through screening and with genetic confirmation.

Healthy age-matched controls with no personal or family history of neuromuscular diseases.

Sites

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