Ataxia TelangiectasiaNCT04605523
Neurofilament Light- Chain in Ataxia Telangiectasia
An observational study of Ataxia Telangiectasia, run by Johann Wolfgang Goethe University Hospital at 1 site in Germany.
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. Read more about this study
- Who is it for?
- Ages 2 to 45 years
- Conditions the study is for
- Ataxia Telangiectasia
- What is being tested?
- blood withdrawal
- Type of treatment
- Surgery or procedure
- How many people
- 40 participants
- Where
- 1 siteGermany
- Study dates
- 1 Feb 2020to 31 Dec 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 45 years
- All sexes
- Child, Adult
Study population: Patients with clinically / and or genetically confirmed diagnosis of ataxia telangiectasia
Who may be able to join
- Informed consent
- Patients: aged ≥2 and 45 years
- known A-T
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
Germany1 site
University Children´s Hospital, Ped. Pulmonology
Frankfurt am Main, Hesse, 60590
About this study
Official title: Neurofilament Light- Chain as Biomarker for Neurodegeneration in Ataxia Telangiectasia
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.
Read the detailed 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.
- Conditions
- Ataxia Telangiectasia
- Being tested
- blood withdrawal
- Keywords
- Ataxia telangiectasia, neurodegeneration, biomarker, disease progression, CSF, Neurofilament light chain
- Medical subject headings
- Ataxia Telangiectasia, Nerve Degeneration, Disease Progression, Charcot-Marie-Tooth disease, Type 1F
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood withdrawalProcedure or surgery
Additional blood sample will be taken within blood collection as part of standard care
| Study group | Role | What they receive |
|---|---|---|
| Patients with Ataxia Telangiectasia | Not described Receives: Procedure: blood withdrawal | |
| Healthy controls | Not described Receives: Procedure: blood withdrawal |
What is being measured
The primary outcome is the main question the study is designed to answer.
Neurofilament - light chain
Increase of neurofilament between age groups: A: 3-6 years; B: 6- <12 years ; C:12-18 years , D: >18 years. Comparison of absolute levels neurofilament (pg/ml) between groups
Measured: 01 Feb 2020 - 31 Dec 2020
Secondary outcomes (3)
Absolute increase per year of neurofilament (pg/ml)
Absolute increase per year of neurofilament (pg/ml)
Measured: 01 Feb 2020 - 31 Dec 2020
Correlation of neurofilament with age
Correlation of neurofilament with age
Measured: 01 Feb 2020 - 31 Dec 2020
Correlation of neurofilament with A-T score
Correlation of neurofilament with A-T score
Measured: 01 Feb 2020 - 31 Dec 2020
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Oct 2020
- Study start1 Feb 2020
- Primary completion31 Dec 2020 (estimated)
- Study completion31 Dec 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ataxia TelangiectasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Johann Wolfgang Goethe University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Stefan Zielen, Johann Wolfgang Goethe University Hospital
- Investigators
- Stefan Zielen, Prof. Dr., Principal investigator, University Children´s Hospital, Pediatric Pulmonology
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04605523
- Sponsor's protocol ID
- 168/18
- Status last verified
- Oct 2020
- First submitted
- 22 Oct 2020
- Last updated
- 30 Oct 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Oct 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Neurofilament Light- Chain as Biomarker for Neurodegeneration in Ataxia Telangiectasia
- ClinicalTrials.gov ID
- NCT04605523
- Acronym / sponsor ID
- 168/18
- Conditions
- Ataxia Telangiectasia
- Keywords
- Ataxia telangiectasia, neurodegeneration, biomarker, disease progression, CSF, Neurofilament light chain
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Johann Wolfgang Goethe University HospitalUniversity, hospital or other
- Study start
- 1 Feb 2020 (actual)
- Primary completion
- 31 Dec 2020 (estimated)
- Study completion
- 31 Dec 2020 (estimated)
- First posted
- 28 Oct 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with Ataxia Telangiectasia | – | Procedure: blood withdrawal |
| Healthy controls | – | Procedure: blood withdrawal |
Who may qualify
- Ages
- 2 to 45 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- Patients with clinically / and or genetically confirmed diagnosis of ataxia telangiectasia
Key inclusion criteria (3 listed)
- Informed consent
- Patients: aged ≥2 and 45 years
- known A-T
Key exclusion criteria (6 listed)
- cranial trauma in the last 6 months
- ongoing malignant disease
- Chronic diseases or infections (e.g. HIV, Tbc)
- Pregnancy
- Alcohol, substance or drug abuse
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| blood withdrawalAdditional blood sample will be taken within blood collection as part of standard care | Procedure or surgery | Healthy controls, Patients with Ataxia Telangiectasia |
Primary outcome
Neurofilament - light chain
Time frame: 01 Feb 2020 - 31 Dec 2020
Increase of neurofilament between age groups: A: 3-6 years; B: 6- <12 years ; C:12-18 years , D: >18 years. Comparison of absolute levels neurofilament (pg/ml) between groups
3 secondary outcomes
Absolute increase per year of neurofilament (pg/ml)
Time frame: 01 Feb 2020 - 31 Dec 2020
Correlation of neurofilament with age
Time frame: 01 Feb 2020 - 31 Dec 2020
Correlation of neurofilament with A-T score
Time frame: 01 Feb 2020 - 31 Dec 2020
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Oct 2020.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Stefan Zielen, Prof. Dr. principal investigator
University Children´s Hospital, Pediatric Pulmonology
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Ataxia Telangiectasia, run by Johann Wolfgang Goethe University Hospital at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 30 Oct 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Neurofilament - light chain (time frame: 01 Feb 2020 - 31 Dec 2020). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Oct 2020.