CSF-analysis in SMA - searching biomarkers in CSF of patients with spinal muscular atrophy via proteomic analysis and neurofilament-ELISA

• Conditions: G12.1; Other inherited spinal muscular atrophy

• Registration Number: DRKS00019834
• Lead Sponsor: niversitätsklinikum Freiburg

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Completion: 2022-03-22
• Study Start: 2022-04-05
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 31

Inclusion Criteria

• Genetically proven 5q spinal muscular atrophy of all subtypes
• Collection of CSF as part of a medically indicated lumbar puncture (e.g. intrathecal therapy with Nusinersen)
• Written declaration of consent from the legal guardians for the scientific use of data and samples from the corresponding biobanks
• Written declaration of consent from the patient to the scientific use of data and samples from the corresponding biobanks, provided that he is able to understand the nature, significance and scope of the study in terms of age and stage of development and to determine his will accordingly.

Exclusion Criteria

• Known intracranial or intraspinal malignancy

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification of prognostic biomarkers in the CSF of patients with spinal muscular atrophy treated with Nusinersen

Secondary Outcome Measures

Name	Time	Method
Analysis of pNFH and pNFL in CSF from Nusinersen-treated SMA patients