Ataxia TelangiectasiaNCT02345200
Body Composition and Hormonal Status in Ataxia Telangiectasia
A study testing bioelectrical impedance analysis and blood draw in people with Ataxia Telangiectasia, run by Johann Wolfgang Goethe University Hospital.
Trial summary
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility. In addition to that, a high percentage of patients show dystrophy, growth retardation and poor weight gain. Read more about this study
- Who is it for?
- Ages 2 to 45 yearsHealthy volunteers can take part
- Conditions the study is for
- Ataxia Telangiectasia
- What is being tested?
- bioelectrical impedance analysis and blood draw
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 52 participants
- Where
- No sites listed yet
- Study dates
- Apr 2013to Apr 2014
- 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
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- aim group: clinically and/or genetically diagnosed A-T
- control group: age and sex matched healthy subjects
- age 2-45 years
- written informed consent
Who cannot join
- age < 2 or > 45 years
- other diseases with influence on the immunosystem (i.e. diabetes mellitus, malignoma, dialysis-dependent renal failure)
- current medication with hormones
About this study
Official title: Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility. In addition to that, a high percentage of patients show dystrophy, growth retardation and poor weight gain. Nevertheless, there are only a few studies assessing this problem. Aim of the present proposal is to investigate the exact body composition, manual muscle strength and hormonal status in patients with A-T compared to healthy controls matched for gender and age. A pelvic sonography in females was performed in order to evaluate the sexual maturity of their inner genitalia. Tanner score was determined to define the physical development. Every subject received a nutritional diary to review its calorie intake and the quality of diet. The investigators expect that the A-T cohort shows an altered body composition, impaired muscle strength, changed hormonal status concerning the sexual hormones and a delayed physical development compared to healthy controls.
Read the detailed description
Ataxia telangiectasia (A-T) is a devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility. In addition to that, a high percentage of patients show dystrophy, growth retardation and poor weight gain. There are only a few studies assessing this problem and the exact variations concerning body composition, muscle strength and hormonal status are widely unknown.
Major factors may be responsible for altered body composition:
- Immunodeficiency and chronic disease are important influences on growth and physical development. The constantly catabolic situation of A-T patients has a major impact on dystrophy.
- Due to the progressive cerebellar ataxia most of the patients are bound to wheelchair so that their muscle mass is decreased
- Impaired muscle strength is related to apraxia, dystonia, contractures and dyskinesia.
- Low levels of growth hormones (GH). Extracerebellar MRI - lesions in A-T go along with deficiency of the GH axis thus causing nanism.
- Delayed puberty and physical development suggest an abnormal metabolism in muscle cells
- There are autopsy reports informing about reduced mass of the adrenal cortex that may be reflected in a lower hormone release of steroid hormones.
The aim of the proposal is to explore the exact body composition, the manual muscle strength, the hormonal status in patients with A-T compared to healthy subjects matched for sex and age. One study visit is performed in all A-T patients and healthy subjects:
- 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 determine the subcutaneous fat fold thickness using calipometry
- To investigate the nourishment habits and diet detected by nutritional diary
- To analyze the manual muscle strength with a hand dynamometer
- To determine the physical development in the A-T cohort by Tanner scores
- To evaluate stage of sexual development and puberty in female A-T patients by ultrasonic of the inner genitalia
- To get a detailed hormonal status including thyroid-stimulating hormone (TSH), luteinizing hormone (LH), follicle stimulating hormone (FSH), GH, cortisol, DHEAS, estradiol, testosterone, progesterone, insulin like growth factor-binding protein 3 (IGF-BP3), etc in serum blood
- Conditions
- Ataxia Telangiectasia
- Being tested
- bioelectrical impedance analysis, blood draw
- Keywords
- dystrophy, body composition, malnutrition
- Medical subject headings
- Ataxia Telangiectasia, Malnutrition
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
bioelectrical impedance analysisProcedure or surgery
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 drawProcedure or surgery
blood samples are taken at 8 am in order to pay attention to the circadian rhythmicity to get a detailed hormonal status
| Study group | Role | What they receive |
|---|---|---|
| Ataxia telangiectasia | Active comparator | 26 patients with clinically and/or genetically diagnosed Ataxia telangiectasia will be examined with bioelectrical impedance analysis (BIA), muscle force measurement, calipometry and get a blood draw Receives: Procedure: bioelectrical impedance analysis; Procedure: blood draw |
| Healthy subjects | Active comparator | 26 age and sex matched subjects without any chronic disease or hormone displacement will be examined with bioelectrical impedance analysis (BIA), muscle force measurement, calipometry and get a blood draw Receives: Procedure: bioelectrical impedance analysis; Procedure: blood draw |
What is being measured
The primary outcome is the main question the study is designed to answer.
Body mass index
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jan 2015 (estimated)
- Study startApr 2013
- Primary completionApr 2014
- Study completionApr 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (8)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
- Supportive care
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 52 participants (actual)
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 Childrens´ Hospital Frankfurt
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02345200
- Sponsor's protocol ID
- BIA_AT2014
- Status last verified
- Jan 2015
- First submitted
- 19 Jan 2015
- Last updated
- 26 Jan 2015
- Results posted
- No
- Data monitoring committee
- No
Publications
DUNN HG, MEUWISSEN H, LIVINGSTONE CS, PUMP KK. ATAXIA-TELANGIECTASIA. Can Med Assoc J. 1964 Nov 21;91(21):1106-18.
PubMed 14229760Schubert R, Reichenbach J, Zielen S. Growth factor deficiency in patients with ataxia telangiectasia. Clin Exp Immunol. 2005 Jun;140(3):517-9. doi: 10.1111/j.1365-2249.2005.02782.x.
PubMed 15932513Voss S, Pietzner J, Hoche F, Taylor AM, Last JI, Schubert R, Zielen S. Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia. Growth Factors. 2014 Jun;32(3-4):123-9. doi: 10.3109/08977194.2014.939805.
PubMed 25060036Kieslich M, Hoche F, Reichenbach J, Weidauer S, Porto L, Vlaho S, Schubert R, Zielen S. Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age. Cerebellum. 2010 Jun;9(2):190-7. doi: 10.1007/s12311-009-0138-0.
PubMed 19898915Cosentino C, Grieco D, Costanzo V. ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair. EMBO J. 2011 Feb 2;30(3):546-55. doi: 10.1038/emboj.2010.330. Epub 2010 Dec 14.
PubMed 21157431Baldin AD, Fabbri T, Siviero-Miachon AA, Spinola-Castro AM, de Lemos-Marini SH, Baptista MT, D'Souza-Li LF, Maciel-Guerra AT, Guerra-Junior G. Growth hormone effect on body composition in Turner syndrome. Endocrine. 2011 Dec;40(3):486-91. doi: 10.1007/s12020-011-9504-z. Epub 2011 Jul 1.
PubMed 21720878Menotta M, Biagiotti S, Bianchi M, Chessa L, Magnani M. Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity. J Biol Chem. 2012 Nov 30;287(49):41352-63. doi: 10.1074/jbc.M112.344473. Epub 2012 Oct 10.
PubMed 23055520Pommerening H, van Dullemen S, Kieslich M, Schubert R, Zielen S, Voss S. Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study. Orphanet J Rare Dis. 2015 Dec 9;10:155. doi: 10.1186/s13023-015-0373-z.
PubMed 26645295
Study at a glance
From the registry record, last updated by the sponsor on 26 Jan 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls
- ClinicalTrials.gov ID
- NCT02345200
- Acronym / sponsor ID
- BIA_AT2014
- Conditions
- Ataxia Telangiectasia
- Keywords
- dystrophy, body composition, malnutrition
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 52 participants (actual)
- Lead sponsor
- Johann Wolfgang Goethe University HospitalUniversity, hospital or other
- Study start
- Apr 2013
- Primary completion
- Apr 2014 (actual)
- Study completion
- Apr 2014 (actual)
- First posted
- 26 Jan 2015 (estimated)
- 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. In addition to that, a high percentage of patients show dystrophy, growth retardation and poor weight gain. Nevertheless, there are only a few studies assessing this problem. Aim of the present proposal is to investigate the exact body composition, manual muscle strength and hormonal status in patients with A-T compared to healthy controls matched for gender and age. A pelvic sonography in females was performed in order to evaluate the sexual maturity of their inner genitalia. Tanner score was determined to define the physical development. Every subject received a nutritional diary to review its calorie intake and the quality of diet. The investigators expect that the A-T cohort shows an altered body composition, impaired muscle strength, changed hormonal status concerning the sexual hormones and a delayed physical development compared to healthy controls.
Detailed description
Ataxia telangiectasia (A-T) is a devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility. In addition to that, a high percentage of patients show dystrophy, growth retardation and poor weight gain. There are only a few studies assessing this problem and the exact variations concerning body composition, muscle strength and hormonal status are widely unknown.
Major factors may be responsible for altered body composition:
- Immunodeficiency and chronic disease are important influences on growth and physical development. The constantly catabolic situation of A-T patients has a major impact on dystrophy.
- Due to the progressive cerebellar ataxia most of the patients are bound to wheelchair so that their muscle mass is decreased
- Impaired muscle strength is related to apraxia, dystonia, contractures and dyskinesia.
- Low levels of growth hormones (GH). Extracerebellar MRI - lesions in A-T go along with deficiency of the GH axis thus causing nanism.
- Delayed puberty and physical development suggest an abnormal metabolism in muscle cells
- There are autopsy reports informing about reduced mass of the adrenal cortex that may be reflected in a lower hormone release of steroid hormones.
The aim of the proposal is to explore the exact body composition, the manual muscle strength, the hormonal status in patients with A-T compared to healthy subjects matched for sex and age. One study visit is performed in all A-T patients and healthy subjects:
- 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 determine the subcutaneous fat fold thickness using calipometry
- To investigate the nourishment habits and diet detected by nutritional diary
- To analyze the manual muscle strength with a hand dynamometer
- To determine the physical development in the A-T cohort by Tanner scores
- To evaluate stage of sexual development and puberty in female A-T patients by ultrasonic of the inner genitalia
- To get a detailed hormonal status including thyroid-stimulating hormone (TSH), luteinizing hormone (LH), follicle stimulating hormone (FSH), GH, cortisol, DHEAS, estradiol, testosterone, progesterone, insulin like growth factor-binding protein 3 (IGF-BP3), etc in serum blood
Study design
- Primary purpose
- Supportive care
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Ataxia telangiectasia | Active comparator | Procedure: bioelectrical impedance analysis, Procedure: blood draw26 patients with clinically and/or genetically diagnosed Ataxia telangiectasia will be examined with bioelectrical impedance analysis (BIA), muscle force measurement, calipometry and get a blood draw |
| Healthy subjects | Active comparator | Procedure: bioelectrical impedance analysis, Procedure: blood draw26 age and sex matched subjects without any chronic disease or hormone displacement will be examined with bioelectrical impedance analysis (BIA), muscle force measurement, calipometry and get a blood draw |
Who may qualify
- Ages
- 2 to 45 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (4 listed)
- aim group: clinically and/or genetically diagnosed A-T
- control group: age and sex matched healthy subjects
- age 2-45 years
- written informed consent
Key exclusion criteria (3 listed)
- age < 2 or > 45 years
- other diseases with influence on the immunosystem (i.e. diabetes mellitus, malignoma, dialysis-dependent renal failure)
- current medication with hormones
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 | Procedure or surgery | Ataxia telangiectasia, Healthy subjects |
| blood drawblood samples are taken at 8 am in order to pay attention to the circadian rhythmicity to get a detailed hormonal status | Procedure or surgery | Ataxia telangiectasia, Healthy subjects |
Primary outcome
Body mass index
Time frame: 12 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Jan 2015.
- Background: PubMed 14229760DUNN HG, MEUWISSEN H, LIVINGSTONE CS, PUMP KK. ATAXIA-TELANGIECTASIA. Can Med Assoc J. 1964 Nov 21;91(21):1106-18.
- Background: PubMed 15932513Schubert R, Reichenbach J, Zielen S. Growth factor deficiency in patients with ataxia telangiectasia. Clin Exp Immunol. 2005 Jun;140(3):517-9. doi: 10.1111/j.1365-2249.2005.02782.x.
- Background: PubMed 25060036Voss S, Pietzner J, Hoche F, Taylor AM, Last JI, Schubert R, Zielen S. Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia. Growth Factors. 2014 Jun;32(3-4):123-9. doi: 10.3109/08977194.2014.939805.
- Background: PubMed 19898915Kieslich M, Hoche F, Reichenbach J, Weidauer S, Porto L, Vlaho S, Schubert R, Zielen S. Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age. Cerebellum. 2010 Jun;9(2):190-7. doi: 10.1007/s12311-009-0138-0.
- Background: PubMed 21157431Cosentino C, Grieco D, Costanzo V. ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair. EMBO J. 2011 Feb 2;30(3):546-55. doi: 10.1038/emboj.2010.330. Epub 2010 Dec 14.
- Background: PubMed 21720878Baldin AD, Fabbri T, Siviero-Miachon AA, Spinola-Castro AM, de Lemos-Marini SH, Baptista MT, D'Souza-Li LF, Maciel-Guerra AT, Guerra-Junior G. Growth hormone effect on body composition in Turner syndrome. Endocrine. 2011 Dec;40(3):486-91. doi: 10.1007/s12020-011-9504-z. Epub 2011 Jul 1.
- Background: PubMed 23055520Menotta M, Biagiotti S, Bianchi M, Chessa L, Magnani M. Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity. J Biol Chem. 2012 Nov 30;287(49):41352-63. doi: 10.1074/jbc.M112.344473. Epub 2012 Oct 10.
- Derived from this study: PubMed 26645295Pommerening H, van Dullemen S, Kieslich M, Schubert R, Zielen S, Voss S. Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study. Orphanet J Rare Dis. 2015 Dec 9;10:155. doi: 10.1186/s13023-015-0373-z.
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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 Childrens´ Hospital Frankfurt
Questions about this trial
What is this clinical trial studying?
A study testing bioelectrical impedance analysis and blood draw in people with Ataxia Telangiectasia, run by Johann Wolfgang Goethe University Hospital.
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 4 inclusion and 3 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: finished, as of the sponsor's last update on 26 Jan 2015. Status can change between updates, so confirm with the study contact before making plans.
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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Body mass index (time frame: 12 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 NCT02345200, which also lists 8 linked publications.
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 26 Jan 2015.