Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia
1 other identifier
interventional
30
1 country
1
Brief Summary
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability and cancer susceptibility. The immunodeficiency is expressed by recurring infections. It's characterised by decreased lymphocytes data as well as lack of immunglobulin A, immunglobulin G subclasses and specific antibodies against pneumococcus. Aim of the present clinical trial is to investigate frequency-, intensity- and duration of the infections as well as changes oft immune status, dimension of liver disease and tumor risk in patients with A-T, with and without immunoglobulin G substitution therapy. Transient elastography (FibroScan) will be performed in order to measure liver stiffness as an indication of fatty liver and liver fibrosis. A bioelectrical impedance analysis (BIA) is conducted to investigate the exact body composition. Ataxia Score is determined to define neurological problems. Every subject receives a diary to compile symptoms of infection.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for not_applicable
Started Oct 2016
Typical duration for not_applicable
1 active site
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
October 1, 2016
CompletedFirst Submitted
Initial submission to the registry
April 24, 2017
CompletedFirst Posted
Study publicly available on registry
November 30, 2017
CompletedPrimary Completion
Last participant's last visit for primary outcome
September 30, 2018
CompletedStudy Completion
Last participant's last visit for all outcomes
September 30, 2019
CompletedNovember 30, 2017
November 1, 2017
2 years
April 24, 2017
November 29, 2017
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Infections in A-T
Evaluation of frequency, severity and intensity of infections in A-T patients with and without immunoglobulin G substitution
24 months
Secondary Outcomes (2)
Liver disease
24 months
Cancer risk
24 months
Study Arms (1)
A-T patients
OTHERA-T patients aged 2 to 45 years with and without immunoglobulin G Substitution * bioelectrical impedance Analysis * blood draw * transient elastography (FibroScan) * ataxia score * Five-Times-Sit-to-Stand Test
Interventions
Electrophysical measurement that allows to determine the exact composition of single body compartments by producing a magnetic field and detecting the potential difference through the body
FibroScan is a noninvasive tool to measure liver stiffness as an indication of fatty liver and liver fibrosis using ultrasound
Klockgether ataxia score ranges from 0 to 35 points in which 0 means no symptoms and 35 stands for final stage of disease. It includes seven ataxia associated symptoms: dysarthria, intention tremor, ataxia of gait, stance, dysdiadochokinesia, upper limb and lower limb
The test measures the complete time which is necessary for an individual to stand up and sit down on a chair five times in series
Eligibility Criteria
You may qualify if:
- aim group: genetically and/or clinically diagnosed A-T
- age 2-45 years
- written informed consent
You may not qualify if:
- age \< 2 or \> 45 years
- other diseases with influence on the immune system (i.e. diabetes mellitus, malignoma, dialysis-dependent renal failure)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Children's Hospital, Allergology, Pneumology and Cystic Fibrosis, Goethe University Frankfurt
Frankfurt am Main, Hesse, 60590, Germany
Related Publications (1)
Zielen S, Duecker RP, Woelke S, Donath H, Bakhtiar S, Buecker A, Kreyenberg H, Huenecke S, Bader P, Mahlaoui N, Ehl S, El-Helou SM, Pietrucha B, Plebani A, van der Flier M, van Aerde K, Kilic SS, Reda SM, Kostyuchenko L, McDermott E, Galal N, Pignata C, Perez JLS, Laws HJ, Niehues T, Kutukculer N, Seidel MG, Marques L, Ciznar P, Edgar JDM, Soler-Palacin P, von Bernuth H, Krueger R, Meyts I, Baumann U, Kanariou M, Grimbacher B, Hauck F, Graf D, Granado LIG, Prader S, Reisli I, Slatter M, Rodriguez-Gallego C, Arkwright PD, Bethune C, Deripapa E, Sharapova SO, Lehmberg K, Davies EG, Schuetz C, Kindle G, Schubert R. Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia. J Clin Immunol. 2021 Nov;41(8):1878-1892. doi: 10.1007/s10875-021-01090-8. Epub 2021 Sep 3.
PMID: 34477998DERIVED
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Stefan Zielen, Prof. Dr.
Children's Hospital, Allergology, Pneumology and Cystic Fibrosis, Goethe-University
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Purpose
- DIAGNOSTIC
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Prof. Dr. med. Stefan Zielen
Study Record Dates
First Submitted
April 24, 2017
First Posted
November 30, 2017
Study Start
October 1, 2016
Primary Completion
September 30, 2018
Study Completion
September 30, 2019
Last Updated
November 30, 2017
Record last verified: 2017-11