Clinical Trial Details
— Status: Enrolling by invitation
Administrative data
| NCT number |
NCT04605523 |
| Other study ID # |
168/18 |
| Secondary ID |
|
| Status |
Enrolling by invitation |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
February 1, 2020 |
| Est. completion date |
December 31, 2020 |
Study information
| Verified date |
October 2020 |
| Source |
Johann Wolfgang Goethe University Hospital |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial 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.
Description:
A-T is a neurodegenerative disease with mutation in the ATM gene. The clinical presentation
is complex and affects many different organ systems. Typical findings are progressive
cerebellar ataxia, malnutrition, immunodeficiency, chromosomal instability and cancer
susceptibility. In addition, new disease entities such as hepatopathy, diabetes and
endocrinological alterations are coming to the force.
The severity of the disease is closely related to presence of residual kinase activity,
immunological status and specific mutations. However, the individual course of the disease is
hard to predict. There is an urgent need to find and define reliable biomarkers for disease
progression in order to estimate the prognosis of individual disease course. According the
classification of estimated disease severity, the most suitable therapy and support can be
organized.
In many other neurodegenerative disorders neurofilament- light chain has been reported to be
a sensitive and reproducable serum biomarker for disease progression, activity and monitoring
of therapy efficaciousness. Neurofilament proteins indicate neuroaxonal damage independent of
causal pathway, the advantage of neurofilaments as a biomarker of disease progression is that
levels rise upon neuroaxonal damage not only in CSF but also in blood. Therefore, they can be
used to monitor disease activity without invasive procedures.
The aim of the proposal is to measure and evaluate neurofilament-light chain as serum
biomarker of disease progression in A-T patients. Additionally, the investigators will
measure neurofilament-light chain in CSF from their human biobank and characterize the
individual evolution in the serum of whole blood taken from the biobank.
In the prospective part of the study, the investigators will correlate the levels of
neurofilament to A-T scores for neurological assessment.
