Ignite Creation Date:
2025-12-24 @ 3:25 PM
Ignite Modification Date:
2025-12-27 @ 7:55 AM
Study NCT ID:
NCT04587492
Status:
COMPLETED
Last Update Posted:
2022-11-10
First Post:
2020-10-07
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Metabolomics of Children With SMA
Sponsor:
University Medical Centre Ljubljana
Organization:
Study Overview
Official Title:
Metabolome of Children With Spinal Muscular Atrophy Treated With Nusinersen
Status:
COMPLETED
Status Verified Date:
2022-11
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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.
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 Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
True
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
False
Is an FDA AA801 Violation?: