NCT04587492

Metabolomics of Children With SMA

Metabolome of Children With Spinal Muscular Atrophy Treated With Nusinersen

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 35 (actual)
• Sponsor: University Medical Centre Ljubljana · Academic / Other
• Sex: All
• Age: 21 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

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.

Conditions

• Spinal Muscular Atrophy

Interventions

Type	Name	Description
DRUG	Nusinersen	Treatment with nusinersen

Timeline

• Start date: 2017-01-01
• Primary completion: 2020-09-30
• Completion: 2020-09-30
• First posted: 2020-10-14
• Last updated: 2022-11-10

Locations

2 sites across 1 country: Slovenia

Regulatory

• FDA-regulated drug study