MedDataX Logo

Neurofilament Light- Chain in Ataxia Telangiectasia

NCT ID: NCT04605523

Last Updated: 2020-10-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

40 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-02-01

Study Completion Date

2020-12-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Ataxia Telangiectasia

Keywords

Explore important study keywords that can help with search, categorization, and topic discovery.

Ataxia telangiectasia neurodegeneration biomarker disease progression CSF Neurofilament light chain

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Patients with Ataxia Telangiectasia

blood withdrawal

Intervention Type PROCEDURE

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

Healthy controls

blood withdrawal

Intervention Type PROCEDURE

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

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

blood withdrawal

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

Intervention Type PROCEDURE

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Informed consent
* Patients: aged ≥2 and 45 years
* known A-T

Exclusion Criteria

* cranial trauma in the last 6 months
* ongoing malignant disease
* Chronic diseases or infections (e.g. HIV, Tbc)
* Pregnancy
* Alcohol, substance or drug abuse
* inability to capture extend and consequences of the study
Minimum Eligible Age

2 Years

Maximum Eligible Age

45 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Johann Wolfgang Goethe University Hospital

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Stefan Zielen

Head of Pediatric Pulmonology

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Stefan Zielen, Prof. Dr.

Role: PRINCIPAL_INVESTIGATOR

University Children´s Hospital, Pediatric Pulmonology

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

University Children´s Hospital, Ped. Pulmonology

Frankfurt am Main, Hesse, Germany

Site Status

Countries

Review the countries where the study has at least one active or historical site.

Germany

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

168/18

Identifier Type: -

Identifier Source: org_study_id