An observational study in Spinal Muscular Atrophy, sponsored by University Medical Centre Ljubljana. Completed at 2 sites in Slovenia. Open to participants aged Up to 21 Years. Per ClinicalTrials.gov, last updated 2022-11-10.
Sponsored by University Medical Centre Ljubljana · Observational
The aim of the proposed project is to evaluate whether the metabolome of patients with spinal muscular atrophy (SMA) before the initiation of treatment with nusinersen differs from the metabolome of healthy individuals and whether it changes 14 months after treatment with nusinersen.
Spinal muscular atrophy (SMA) is a severe, debilitating disease and is an important source of morbidity and mortality of children. Novel disease modifying therapies can alter the natural course of the disease. However, many aspects of their action remain unknown. Metabolomics is the large-scale study of metabolites, within cells, biofluids, tissues or organisms. Collectively, these small molecules and their interactions within a biological system are known as the metabolome.
The aim of this study is to evaluate whether the metabolome of patients with SMA before the initiation of disease modifying therapy with nusinersen differs from the metabolome of healthy individuals. Next, we would like to asses whether tretament with nusinersen alters the metabolome of patients with SMA. Utilizing metabolomics, we would like to assess whether we can identify parameters reflecting the state of the disease in a particular patient, and parameters with diagnostic and/or prognostic value. Using metabolomics, we will aim to identify SMA patients that will positively respond to gene therapy.
494 studies on the registry are indexed under Muscular Atrophy; 94 are open to participants now.
This study's enrollment of 35 is below the median of 72 across 139 observational studies indexed under Muscular Atrophy.
Browse Muscular Atrophy studies →University Medical Centre Ljubljana is the lead sponsor of 284 studies on the registry; 71 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Children with genetically diagnosed SMA
Exclusion Criteria:
All children with SMA are eligible for the study
Drug: Nusinersen
Treatment with nusinersen
Metabolomic difference from healthy children
Metabolomic difference between children with SMA and healthy children
Time frame: Beginning of study
Metabolomic change before and after treatment
Metabolomic change in children with SMA before and after treatment with nusinersen
Time frame: At least 14 months of treatment
Plan to share: No
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This study is completed, as verified in Nov 2022. You cannot join it, but the record below documents what was studied.
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University Medical Centre Ljubljana