Metabolomics of Children With SMA

NCT ID: NCT04587492

Last Updated: 2022-11-10

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 35 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2017-01-01
• Study Completion Date: 2020-09-30

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.

Conditions

Spinal Muscular Atrophy

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Children with SMA

All children with SMA are eligible for the study

Nusinersen

Intervention Type: DRUG

Treatment with nusinersen

Interventions

Nusinersen

Treatment with nusinersen

Intervention Type: DRUG

Eligibility Criteria

Inclusion Criteria

• Genetically confirmed SMA
• Age up to 21 years

Exclusion Criteria

• None

• Maximum Eligible Age: 21 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Medical Centre Ljubljana

OTHER

Sponsor Role: lead

Responsible Party

Damjan Osredkar

Associate Professor in Pediatrics

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

Biotechnical faculty

Ljubljana, , Slovenia

University Medical Centre Ljubljana

Ljubljana, , Slovenia

Countries

Slovenia

Other Identifiers

0120-305/2018/11

Identifier Type: -

Identifier Source: org_study_id