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RECRUITING
Updated: Oct 20, 2026
Advanced Multi-omics and -System Approaches to Identify Novel Biomarkers for SMA (MOSAiC-SMA)
Brief Summary
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by mutations in the SMN1 gene, leading to motor neuron degeneration and progressive muscle atrophy. Despite recent advances in therapeutic options, the clinical management of SMA remains challenging due to the heterogeneity of disease progression and variability in treatment response.
This study aims to identify and validate novel biomarkers to improve the diagnosis, prognosis, and therapeutic monitoring of patients with SMA through a multi-omics and translational research approach.
Key Information
Participation Criteria
Study Design
Locations & Contacts
Inclusion Criteria:
- Genetically confirmed diagnosis of SMA, with homozygous deletion or mutation of the SMN1 gene, for symptomatic patients.
- Diagnosis of SMA through newborn screening, with genetic confirmation, for newborns.
- Ability of parents/legal guardians to provide informed consent for minor patients.
- Willingness to undergo the study procedures, including blood sampling and collection of biological specimens.
Exclusion Criteria:
- Presence of other neuromuscular or neurological diseases that could influence the clinical phenotype and biomarker profile.
- Participation in other clinical trials involving investigational medicinal products for SMA within the 6 months prior to enrolment.
- Presence of medical or psychological conditions that could compromise patient compliance or study safety.
- Refusal to participate in the study or to provide informed consent.