Clinical trial · Interventional
Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia
Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia With and Without Substitution of Immunoglobulin G: a Prospective Observational Study
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Ataxia Telangiectasia | — | UNRESOLVED | — |
Interventions
Interventions (5)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| ataxia score | Diagnostic Test | — | UNRESOLVED |
| bioelectrical impedance analysis | Diagnostic Test | — | UNRESOLVED |
| blood draw | Diagnostic Test | — | UNRESOLVED |
| Five-Times-Sit-to-Stand Test | Diagnostic Test | — | UNRESOLVED |
| transient elastography (FibroScan) | Diagnostic Test | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- type
- OTHER
- label
- A-T patients
- description
- A-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
- interventionNames
- Diagnostic Test: bioelectrical impedance analysis
- Diagnostic Test: blood draw
- Diagnostic Test: transient elastography (FibroScan)
- Diagnostic Test: ataxia score
- Diagnostic Test: Five-Times-Sit-to-Stand Test
Primary outcomes (1)
- measure
- Infections in A-T
- timeFrame
- 24 months
- description
- Evaluation of frequency, severity and intensity of infections in A-T patients with and without immunoglobulin G substitution
Secondary outcomes (2)
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 2 Years
- Maximum age
- 45 Years
Show eligibility criteria text
Inclusion Criteria: * aim group: genetically and/or clinically diagnosed A-T * age 2-45 years * written informed consent Exclusion Criteria: * age \< 2 or \> 45 years * other diseases with influence on the immune system (i.e. diabetes mellitus, malignoma, dialysis-dependent renal failure)
References
Publications (1)
- DERIVEDZielen 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 34477998