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.
Full Title of Study: “Metabolome of Children With Spinal Muscular Atrophy Treated With Nusinersen”
- Study Type: Observational
- Study Design
- Time Perspective: Prospective
- Study Primary Completion Date: September 30, 2020
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.
- Drug: Nusinersen
- Treatment with nusinersen
Arms, Groups and Cohorts
- Children with SMA
- All children with SMA are eligible for the study
Clinical Trial Outcome Measures
- Metabolomic difference from healthy children
- Time Frame: Beginning of study
- Metabolomic difference between children with SMA and healthy children
- Metabolomic change before and after treatment
- Time Frame: At least 14 months of treatment
- Metabolomic change in children with SMA before and after treatment with nusinersen
Participating in This Clinical Trial
- Genetically confirmed SMA
- Age up to 21 years
Gender Eligibility: All
Minimum Age: N/A
Maximum Age: 21 Years
Are Healthy Volunteers Accepted: No
- Lead Sponsor
- University Medical Centre Ljubljana
- Provider of Information About this Clinical Study
- Principal Investigator: Damjan Osredkar, Associate Professor in Pediatrics – University Medical Centre Ljubljana
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