NCT04605523

Brief 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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
40

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Feb 2020

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 1, 2020

Completed
9 months until next milestone

First Submitted

Initial submission to the registry

October 22, 2020

Completed
6 days until next milestone

First Posted

Study publicly available on registry

October 28, 2020

Completed
2 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2020

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2020

Completed
Last Updated

October 30, 2020

Status Verified

October 1, 2020

Enrollment Period

11 months

First QC Date

October 22, 2020

Last Update Submit

October 28, 2020

Conditions

Ataxia Telangiectasia

Keywords

Ataxia telangiectasianeurodegenerationbiomarkerdisease progressionCSFNeurofilament light chain

Outcome Measures

Primary Outcomes (1)

  • 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

    01 Feb 2020 - 31 Dec 2020

Secondary Outcomes (3)

  • Absolute increase per year of neurofilament (pg/ml)

    01 Feb 2020 - 31 Dec 2020

  • Correlation of neurofilament with age

    01 Feb 2020 - 31 Dec 2020

  • Correlation of neurofilament with A-T score

    01 Feb 2020 - 31 Dec 2020

Other Outcomes (3)

  • Variability of levels of neurofilament within 12 months

    01 Feb 2020 - 31 Dec 2020

  • Levels of neurofilament in cerebrospinal fluid (CSF)

    01 Feb 2020 - 31 Dec 2020

  • Correlation of neurofilament between serum and CSF

    01 Feb 2020 - 31 Dec 2020

Study Arms (2)

Patients with Ataxia Telangiectasia

Procedure: blood withdrawal

Healthy controls

Procedure: blood withdrawal

Interventions

blood withdrawalPROCEDURE

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

Healthy controlsPatients with Ataxia Telangiectasia

Eligibility Criteria

Age2 Years - 45 Years
Sexall
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodProbability Sample
Study Population

Patients with clinically / and or genetically confirmed diagnosis of ataxia telangiectasia

You may qualify if:

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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University Children´s Hospital, Ped. Pulmonology

Frankfurt am Main, Hesse, 60590, Germany

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Serum of whole blood CSF

MeSH Terms

Conditions

Ataxia TelangiectasiaNerve DegenerationDisease ProgressionCharcot-Marie-Tooth disease, Type 1F

Condition Hierarchy (Ancestors)

Spinocerebellar AtaxiasCerebellar AtaxiaCerebellar DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesNeurocutaneous SyndromesAtaxiaDyskinesiasNeurologic ManifestationsTelangiectasisVascular DiseasesCardiovascular DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesPrimary Immunodeficiency DiseasesDNA Repair-Deficiency DisordersMetabolic DiseasesNutritional and Metabolic DiseasesImmunologic Deficiency SyndromesImmune System DiseasesPathologic ProcessesPathological Conditions, Signs and SymptomsDisease Attributes

Study Officials

  • Stefan Zielen, Prof. Dr.

    University Children´s Hospital, Pediatric Pulmonology

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Head of Pediatric Pulmonology

Study Record Dates

First Submitted

October 22, 2020

First Posted

October 28, 2020

Study Start

February 1, 2020

Primary Completion

December 31, 2020

Study Completion

December 31, 2020

Last Updated

October 30, 2020

Record last verified: 2020-10

Data Sharing

IPD Sharing
Will not share

Locations

DE(1)