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Metabolomics of Children With SMA

Sponsor
University Medical Centre Ljubljana (Other)
Overall Status
Completed
CT.gov ID
NCT04587492
Collaborator
(none)
35
Enrollment
2
Locations
44.9
Actual Duration (Months)
17.5
Patients Per Site
0.4
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

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 Design

Study Type:
Observational
Actual Enrollment :
35 participants
Observational Model:
Cohort
Time Perspective:
Prospective
Official Title:
Metabolome of Children With Spinal Muscular Atrophy Treated With Nusinersen
Actual Study Start Date :
Jan 1, 2017
Actual Primary Completion Date :
Sep 30, 2020
Actual Study Completion Date :
Sep 30, 2020

Arms and Interventions

Arm Intervention/Treatment
Children with SMA

All children with SMA are eligible for the study

Drug: Nusinersen
Treatment with nusinersen

Outcome Measures

Primary Outcome Measures

  1. Metabolomic difference from healthy children [Beginning of study]

    Metabolomic difference between children with SMA and healthy children

  2. Metabolomic change before and after treatment [At least 14 months of treatment]

    Metabolomic change in children with SMA before and after treatment with nusinersen

Eligibility Criteria

Criteria

Ages Eligible for Study:
N/A to 21 Years
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
Inclusion Criteria:

  • Genetically confirmed SMA

  • Age up to 21 years

Exclusion Criteria:
  • None

Contacts and Locations

Locations

Site City State Country Postal Code
1 Biotechnical faculty Ljubljana Slovenia
2 University Medical Centre Ljubljana Ljubljana Slovenia

Sponsors and Collaborators

  • University Medical Centre Ljubljana

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.
Responsible Party:
Damjan Osredkar, Associate Professor in Pediatrics, University Medical Centre Ljubljana
ClinicalTrials.gov Identifier:
NCT04587492
Other Study ID Numbers:
  • 0120-305/2018/11
First Posted:
Oct 14, 2020
Last Update Posted:
Oct 14, 2020
Last Verified:
Oct 1, 2020
Individual Participant Data (IPD) Sharing Statement:
No
Plan to Share IPD:
No
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
Keywords provided by Damjan Osredkar, Associate Professor in Pediatrics, University Medical Centre Ljubljana
Spinal Muscular Atrophy, nusinersen, metabolome
Additional relevant MeSH terms:
Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy

Study Results

No Results Posted as of Oct 14, 2020