Ataxia TelangiectasiaNCT03357978
Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia
A study testing bioelectrical impedance analysis, blood draw and transient elastography (FibroScan) in people with Ataxia Telangiectasia, run by Johann Wolfgang Goethe University Hospital at 1 site in Germany.
Trial 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. 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?
- bioelectrical impedance analysis, blood draw and transient elastography (FibroScan)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 1 siteGermany
- Study dates
- 1 Oct 2016to 30 Sep 2019
- Phase
- Interventional
- 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
- No healthy volunteers
- Child, Adult
Who may be able to join
- aim group: genetically and/or clinically diagnosed A-T
- age 2-45 years
- written informed consent
Who cannot join
- age < 2 or > 45 years
- other diseases with influence on the immune system (i.e. diabetes mellitus, malignoma, dialysis-dependent renal failure)
Trial locations and contacts
1 site in 1 country.
Germany1 site, 1 recruiting
- Recruiting
Children's Hospital, Allergology, Pneumology and Cystic Fibrosis, Goethe University Frankfurt
Frankfurt am Main, Hesse, 60590
Sandra Wölke, Dr., 004969630183063, sandra.voss@kgu.de
Stefan Zielen, Prof. Dr., 004969630183063, stefan.zielen@kgu.de
About this study
Official title: Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia With and Without Substitution of Immunoglobulin G: a Prospective Observational Study
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.
Read the detailed description
Ataxia teleangiectasia (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 as shown in many trials. Additionally the patients suffer from a fatty liver with increased transaminases and have the risk for a cirrhosis of the liver and a hepatocellular carcinoma. It's known that the dimension of the liver disease affects susceptibility to infection. Nevertheless there are only a few studies treating this problem.
Despite the proof of the immunodeficiency polyvalent immunoglobulins (IgG) are not given regularly. Own observations show that in spite of the treatment with immunoglobulins the progression of a chronic destructive lung disease with development of bronchiectasis hardly can prohibited.
Up to now it isn't cleared if a substitution therapy with immunoglobulins reduces the susceptibility to infection. Therefore the aim oft the present clinical trial ist to explore frequency-, intensity, and duration oft the infections as well as changes oft the immune status, measure of liver disease and tumor risk in patients with A-T, with and without immunoglobulin therapy. The study includes five visits, which are performed in all A-T patients. Visit 1, 3, 5 are realized in the context of annual follow ups:
- To evaluate weight and length of all subjects
- To analyze the exact structure of single body compartments such as the lean mass, the water compartment or the fat compartment using bioelectrical impedance analysis
- To define the neurological status by ataxia score
- To get a detailed immune status, vaccination status and liver values as well as special tumor markers in blood
- To check the lung function using spirometry
- To measure liver stiffness using transient elastography (FibroScan)
- To compile any symptoms of infection by diary
- To investigate the ataxia status and physical condition by means of the Five-Times-Sit-to-Stand Test
Visit 2 and 4 are additionally conducted as study visits:
- To get a detailed immune status in blood
- To check the lung function using spirometry
- Conditions
- Ataxia Telangiectasia
- Being tested
- bioelectrical impedance analysis, blood draw, transient elastography (FibroScan), ataxia score, Five-Times-Sit-to-Stand Test
- Keywords
- immunodeficiency, liver disease, cancer risk
- Medical subject headings
- Ataxia Telangiectasia, Immunologic Deficiency Syndromes, Liver Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
bioelectrical impedance analysisDiagnostic test
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
blood drawDiagnostic test
Blood samples are taken from sober patients
transient elastography (FibroScan)Diagnostic test
FibroScan is a noninvasive tool to measure liver stiffness as an indication of fatty liver and liver fibrosis using ultrasound
ataxia scoreDiagnostic test
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
Five-Times-Sit-to-Stand TestDiagnostic test
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
| Study group | Role | What they receive |
|---|---|---|
| A-T patients | Other | 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 Receives: 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Infections in A-T
Evaluation of frequency, severity and intensity of infections in A-T patients with and without immunoglobulin G substitution
Measured: 24 months
Secondary outcomes (2)
Liver disease
Evaluation of the degree of liver disease measured by liver enzymes and structural changes by transient elastography (Fibroscan) in A-T patients
Measured: 24 months
Cancer risk
Evaluation of tumor markers in A-T patients
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Nov 2017
- Study start1 Oct 2016
- Primary completion30 Sep 2018 (estimated)
- Study completion30 Sep 2019 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 30 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, Children's Hospital, Allergology, Pneumology and Cystic Fibrosis, Goethe-University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03357978
- Sponsor's protocol ID
- InfectionandLiver_AT2016
- Status last verified
- Nov 2017
- First submitted
- 24 Apr 2017
- Last updated
- 30 Nov 2017
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 34477998
Study at a glance
From the registry record, last updated by the sponsor on 30 Nov 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia With and Without Substitution of Immunoglobulin G: a Prospective Observational Study
- ClinicalTrials.gov ID
- NCT03357978
- Acronym / sponsor ID
- InfectionandLiver_AT2016
- Conditions
- Ataxia Telangiectasia
- Keywords
- immunodeficiency, liver disease, cancer risk
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Johann Wolfgang Goethe University HospitalUniversity, hospital or other
- Study start
- 1 Oct 2016 (actual)
- Primary completion
- 30 Sep 2018 (estimated)
- Study completion
- 30 Sep 2019 (estimated)
- First posted
- 30 Nov 2017 (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 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.
Detailed description
Ataxia teleangiectasia (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 as shown in many trials. Additionally the patients suffer from a fatty liver with increased transaminases and have the risk for a cirrhosis of the liver and a hepatocellular carcinoma. It's known that the dimension of the liver disease affects susceptibility to infection. Nevertheless there are only a few studies treating this problem.
Despite the proof of the immunodeficiency polyvalent immunoglobulins (IgG) are not given regularly. Own observations show that in spite of the treatment with immunoglobulins the progression of a chronic destructive lung disease with development of bronchiectasis hardly can prohibited.
Up to now it isn't cleared if a substitution therapy with immunoglobulins reduces the susceptibility to infection. Therefore the aim oft the present clinical trial ist to explore frequency-, intensity, and duration oft the infections as well as changes oft the immune status, measure of liver disease and tumor risk in patients with A-T, with and without immunoglobulin therapy. The study includes five visits, which are performed in all A-T patients. Visit 1, 3, 5 are realized in the context of annual follow ups:
- To evaluate weight and length of all subjects
- To analyze the exact structure of single body compartments such as the lean mass, the water compartment or the fat compartment using bioelectrical impedance analysis
- To define the neurological status by ataxia score
- To get a detailed immune status, vaccination status and liver values as well as special tumor markers in blood
- To check the lung function using spirometry
- To measure liver stiffness using transient elastography (FibroScan)
- To compile any symptoms of infection by diary
- To investigate the ataxia status and physical condition by means of the Five-Times-Sit-to-Stand Test
Visit 2 and 4 are additionally conducted as study visits:
- To get a detailed immune status in blood
- To check the lung function using spirometry
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| A-T patients | Other | 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 TestA-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 |
Who may qualify
- Ages
- 2 to 45 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- aim group: genetically and/or clinically diagnosed A-T
- age 2-45 years
- written informed consent
Key exclusion criteria (2 listed)
- age < 2 or > 45 years
- other diseases with influence on the immune system (i.e. diabetes mellitus, malignoma, dialysis-dependent renal failure)
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 |
|---|---|---|
| bioelectrical impedance analysisElectrophysical 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 | Diagnostic test | A-T patients |
| blood drawBlood samples are taken from sober patients | Diagnostic test | A-T patients |
| transient elastography (FibroScan)FibroScan is a noninvasive tool to measure liver stiffness as an indication of fatty liver and liver fibrosis using ultrasound | Diagnostic test | A-T patients |
| ataxia scoreKlockgether 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 | Diagnostic test | A-T patients |
| Five-Times-Sit-to-Stand TestThe test measures the complete time which is necessary for an individual to stand up and sit down on a chair five times in series | Diagnostic test | A-T patients |
Primary outcome
Infections in A-T
Time frame: 24 months
Evaluation of frequency, severity and intensity of infections in A-T patients with and without immunoglobulin G substitution
2 secondary outcomes
Liver disease
Time frame: 24 months
Cancer risk
Time frame: 24 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Nov 2017.
- Derived from this study: PubMed 34477998Zielen 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.
- Individual participant dataSharing planned: Undecided
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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
Children's Hospital, Allergology, Pneumology and Cystic Fibrosis, Goethe-University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing bioelectrical impedance analysis, blood draw and transient elastography (FibroScan) in people with 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 2 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 Nov 2017. 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?
Contact Sandra Woelke, Dr. (00496930183063, sandra.voss@kgu.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Infections in A-T (time frame: 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03357978, which also lists 1 linked publication.
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 Nov 2017.