Skip to main content
OpenTrials
Completed

NCT Number: NCT04587492

Metabolomics of Children With SMA

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Spinal Muscular Atrophy Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Age range

Up to 21 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Biotechnical faculty, Ljubljana, Slovenia

Loading trial locations.

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Genetically confirmed SMA
  • Age up to 21 years

Exclusion criteria

  • None

Treatment and study plan

nusinersen

Drug

Treatment with nusinersen

Primary outcomes

  1. Metabolomic difference from healthy children

    Time frame: Beginning of study

    Metabolomic difference between children with SMA and healthy children

  2. 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

Sponsors and collaborators

Lead sponsor

University Medical Centre Ljubljana

Other

Registry information

Official study title

Metabolome of Children With Spinal Muscular Atrophy Treated With Nusinersen

Important dates

Study start
2017
Primary completion
2020
Study completion
2020
First posted
Oct 14, 2020
Registry last updated
Nov 10, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.