Metabolomics of Children With SMA

November 4, 2022 updated by: Damjan Osredkar, University Medical Centre Ljubljana

Metabolome of Children With Spinal Muscular Atrophy Treated With Nusinersen

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

35

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Slovenia
      • Ljubljana, Slovenia
        • University Medical Centre Ljubljana
      • Ljubljana, Slovenia
        • Biotechnical faculty

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 21 years (ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Children with genetically diagnosed SMA

Description

Inclusion Criteria:

  • Genetically confirmed SMA
  • Age up to 21 years

Exclusion Criteria:

  • None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Children with SMA
All children with SMA are eligible for the study
Drug: Nusinersen
Treatment with nusinersen

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Metabolomic difference from healthy children
Time Frame: Beginning of study
Metabolomic difference between children with SMA and healthy children
Beginning of study
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
At least 14 months of treatment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Medical Centre Ljubljana

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

January 1, 2017

Primary Completion (ACTUAL)

September 30, 2020

Study Completion (ACTUAL)

September 30, 2020

Study Registration Dates

First Submitted

October 7, 2020

First Submitted That Met QC Criteria

October 7, 2020

First Posted (ACTUAL)

October 14, 2020

Study Record Updates

Last Update Posted (ACTUAL)

November 10, 2022

Last Update Submitted That Met QC Criteria

November 4, 2022

Last Verified

November 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 0120-305/2018/11

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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