Metabolomics of Children With SMA

Completed

• Conditions: Spinal Muscular Atrophy
• Interventions: Drug: Nusinersen

• Registration Number: NCT04587492
• Lead Sponsor: University Medical Centre Ljubljana

Brief 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.

Study Timeline

• Study Start: 2017-01-01
• Primary Completion: 2020-09-30
• Study Completion: 2020-09-30
• Study First Submitted: 2020-10-07
• Study First Submitted QC: 2020-10-07
• Study First Posted: 2020-10-14
• Status Verified: 2022-11
• Last Update Submitted: 2022-11-04
• Last Update Posted: 2022-11-10

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 35

Inclusion Criteria

• Genetically confirmed SMA
• Age up to 21 years

Exclusion Criteria

• None

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Children with SMA	Nusinersen	All children with SMA are eligible for the study

Primary Outcome Measures

Name	Time	Method
Metabolomic difference from healthy children	Beginning of study	Metabolomic difference between children with SMA and healthy children
Metabolomic change before and after treatment	At least 14 months of treatment	Metabolomic change in children with SMA before and after treatment with nusinersen

Trial Locations

Locations (2)

University Medical Centre Ljubljana; 🇸🇮 Ljubljana, Slovenia

Biotechnical faculty; 🇸🇮 Ljubljana, Slovenia