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Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T

NCT02285348 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 18

Last updated 2021-08-31

No results posted yet for this study

Summary

Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility. The underlying mechanism and process of neurodegeneration leading to loss of cerebellar neurons and neurological function is largely unknown. Laboratory diagnostic approaches to neurodegeneration in A-T are hampered by sampling issues. It is dangerous, impractical, and not ethically to directly sample brain tissue by surgical biopsy. In contrast cerebrospinal fluid (CSF), a fluid that is in direct contact with brain tissue, is relatively easy to sample in a safe procedure (lumbar puncture). The aim of the proposal is to investigate oxidative stress, low grade inflammation and tissue break down in the brain of A-T patients by analyzing CSF. In addition the alterations in protein expression related to A-T will be quantified by liquid chromatography/mass spectrometry (LC/MS)-based proteomic analysis of CSF from healthy individuals and A-T patients to determine candidate proteins (new biomarkers) which relative expression levels could be used as surrogate marker of disease progression.

Conditions

  • Ataxia Telangiectasia

Interventions

PROCEDURE

Lumbar puncture

Lumbar puncture is done according to general practice

Sponsors & Collaborators

  • Johann Wolfgang Goethe University Hospital

    lead OTHER

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
2 Years
Max Age
40 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2013-04-01
Primary Completion
2015-05-30
Completion
2017-07-31

Countries

  • Germany

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02285348 on ClinicalTrials.gov