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NCT04605523

Neurofilament Light- Chain in Ataxia Telangiectasia

Status unknown Last updated 30 October 2020
What this trial tests

trial testing blood withdrawal in Ataxia Telangiectasia in 40 participants. Status unknown.

Timeline
1 February 2020
Primary endpoint
31 December 2020
31 December 2020

Quick facts

Lead sponsorJohann Wolfgang Goethe University Hospital
StatusStatus unknown
Study typeOBSERVATIONAL
Enrollment40
Start date1 February 2020
Primary completion31 December 2020
Estimated completion31 December 2020
Sites1 location across Germany

Drugs / interventions tested

Conditions studied

Sponsor

Johann Wolfgang Goethe University Hospital

Who can join

Adults 2 to 45, any sex, with Ataxia Telangiectasia. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.

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Other trials of blood withdrawal

Trials testing the same drug.

Other recruiting trials for Ataxia Telangiectasia

Currently open trials in the same condition.

Other Johann Wolfgang Goethe University Hospital trials

Trials by the same sponsor.

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