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Neurofilament Light- Chain in Ataxia Telangiectasia

NCT04605523 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 40

Last updated 2020-10-30

No results posted yet for this study

Summary

Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility. Currently there are no curative therapy options. The clinical presentation of the disease has a wide variety is linked to the proven mutation, immunological status and residual ATM kinase activity. Apart from these prognostic markers, hardly any biomarker to predict disease course is available. Aim of the present proposal is to evaluate serum concentrations of neurofilament - light chain in the serum of whole blood as biomarker of neurodegeneration prospectively. In addition to that, the investigators will examine the evolution of neurofilament - light chain longitudinally by blood samples from our biobank as well as the concentration of neurofilament - light chain in cerebrospinal fluid (CSF) of affected A-T patients from our biobank.

As in other neurodegenerative disorders and ataxias, the investigators expect that neurofilament- light chain levels are increased in the A-T cohort and correlated to the neurological status of A-T patients evaluated by means of AT-score.

Conditions

  • Ataxia Telangiectasia

Interventions

PROCEDURE

blood withdrawal

Additional blood sample will be taken within blood collection as part of standard care

Sponsors & Collaborators

  • Johann Wolfgang Goethe University Hospital

    lead OTHER

Principal Investigators

  • Stefan Zielen, Prof. Dr. · University Children´s Hospital, Pediatric Pulmonology

Eligibility

Min Age
2 Years
Max Age
45 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-02-01
Primary Completion
2020-12-31
Completion
2020-12-31

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 NCT04605523 on ClinicalTrials.gov