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

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00019834

Enrollment

Registered

2022-04-05

Start date

2020-02-20

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

G12.1

Interventions

Group 1: Examination of CSF samples at therapy times day 1, day 63 and day 300

Eligibility

Sex/Gender

All

Age

0 Years to 17 Years

Inclusion criteria

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

Exclusion criteria: • Known intracranial or intraspinal malignancy

Design outcomes

Primary

Measure	Time frame
Identification of prognostic biomarkers in the CSF of patients with spinal muscular atrophy treated with Nusinersen	—

Secondary

Measure	Time frame
Analysis of pNFH and pNFL in CSF from Nusinersen-treated SMA patients	—

Countries

Germany

Contacts

Public ContactDavid Schorling

Zentrum für Kinder- und Jugendmedizin - Klinik für Neuropädiatrie und Muskelerkrankungen

David.Schorling@uniklinik-freiburg.de0761 270 43000

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026