NCT04587492

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
35

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Jan 2017

Typical duration for all trials

Geographic Reach
1 country

2 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2017

Completed
3.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 30, 2020

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 30, 2020

Completed
7 days until next milestone

First Submitted

Initial submission to the registry

October 7, 2020

Completed
7 days until next milestone

First Posted

Study publicly available on registry

October 14, 2020

Completed
Last Updated

November 10, 2022

Status Verified

November 1, 2022

Enrollment Period

3.7 years

First QC Date

October 7, 2020

Last Update Submit

November 4, 2022

Conditions

Spinal Muscular Atrophy

Keywords

Spinal Muscular Atrophy, nusinersen, metabolome

Outcome Measures

Primary Outcomes (2)

  • Metabolomic difference from healthy children

    Metabolomic difference between children with SMA and healthy children

    Beginning of study

  • Metabolomic change before and after treatment

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

    At least 14 months of treatment

Study Arms (1)

Children with SMA

All children with SMA are eligible for the study

Drug: Nusinersen

Interventions

NusinersenDRUG

Treatment with nusinersen

Children with SMA

Eligibility Criteria

AgeUp to 21 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodProbability Sample
Study Population

Children with genetically diagnosed SMA

You may qualify if:

  • Genetically confirmed SMA
  • Age up to 21 years

You may not qualify if:

  • None

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Biotechnical faculty

Ljubljana, Slovenia

Location

University Medical Centre Ljubljana

Ljubljana, Slovenia

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Cerebrospinal fluid, serum, urine

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Interventions

nusinersen

Condition Hierarchy (Ancestors)

Spinal Cord DiseasesCentral Nervous System DiseasesNervous System DiseasesMotor Neuron DiseaseNeurodegenerative DiseasesNeuromuscular Diseases

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Associate Professor in Pediatrics

Study Record Dates

First Submitted

October 7, 2020

First Posted

October 14, 2020

Study Start

January 1, 2017

Primary Completion

September 30, 2020

Study Completion

September 30, 2020

Last Updated

November 10, 2022

Record last verified: 2022-11

Data Sharing

IPD Sharing
Will not share

Locations

SL(2)