Body Composition and Hormonal Status in Ataxia Telangiectasia
Primary Purpose
Ataxia Telangiectasia
Status
Completed
Phase
Not Applicable
Locations
Study Type
Interventional
Intervention
bioelectrical impedance analysis
blood draw
Sponsored by
About this trial
This is an interventional supportive care trial for Ataxia Telangiectasia focused on measuring dystrophy, body composition, malnutrition
Eligibility Criteria
Inclusion Criteria:
- aim group: clinically and/or genetically diagnosed A-T
- control group: age and sex matched healthy subjects
- age 2-45 years
- written informed consent
Exclusion Criteria:
- 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
Sites / Locations
Arms of the Study
Arm 1
Arm 2
Arm Type
Active Comparator
Active Comparator
Arm Label
Ataxia telangiectasia
Healthy subjects
Arm Description
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
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
Outcomes
Primary Outcome Measures
Body mass index
Secondary Outcome Measures
Full Information
NCT ID
NCT02345200
First Posted
January 19, 2015
Last Updated
January 22, 2015
Sponsor
Johann Wolfgang Goethe University Hospital
1. Study Identification
Unique Protocol Identification Number
NCT02345200
Brief Title
Body Composition and Hormonal Status in Ataxia Telangiectasia
Official Title
Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls
Study Type
Interventional
2. Study Status
Record Verification Date
January 2015
Overall Recruitment Status
Completed
Study Start Date
April 2013 (undefined)
Primary Completion Date
April 2014 (Actual)
Study Completion Date
April 2014 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Johann Wolfgang Goethe University Hospital
4. Oversight
Data Monitoring Committee
No
5. Study Description
Brief 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. 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
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Ataxia Telangiectasia
Keywords
dystrophy, body composition, malnutrition
7. Study Design
Primary Purpose
Supportive Care
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
52 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Ataxia telangiectasia
Arm Type
Active Comparator
Arm Description
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
Arm Title
Healthy subjects
Arm Type
Active Comparator
Arm Description
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
Intervention Type
Procedure
Intervention Name(s)
bioelectrical impedance analysis
Intervention Description
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
Intervention Type
Procedure
Intervention Name(s)
blood draw
Intervention Description
blood samples are taken at 8 am in order to pay attention to the circadian rhythmicity to get a detailed hormonal status
Primary Outcome Measure Information:
Title
Body mass index
Time Frame
12 months
10. Eligibility
Sex
All
Minimum Age & Unit of Time
2 Years
Maximum Age & Unit of Time
45 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria:
aim group: clinically and/or genetically diagnosed A-T
control group: age and sex matched healthy subjects
age 2-45 years
written informed consent
Exclusion Criteria:
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Stefan Zielen, Prof. Dr.
Organizational Affiliation
University Childrens´ Hospital Frankfurt
Official's Role
Principal Investigator
12. IPD Sharing Statement
Citations:
PubMed Identifier
14229760
Citation
DUNN HG, MEUWISSEN H, LIVINGSTONE CS, PUMP KK. ATAXIA-TELANGIECTASIA. Can Med Assoc J. 1964 Nov 21;91(21):1106-18.
Results Reference
background
PubMed Identifier
15932513
Citation
Schubert 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.
Results Reference
background
PubMed Identifier
25060036
Citation
Voss 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.
Results Reference
background
PubMed Identifier
19898915
Citation
Kieslich 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.
Results Reference
background
PubMed Identifier
21157431
Citation
Cosentino 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.
Results Reference
background
PubMed Identifier
21720878
Citation
Baldin 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.
Results Reference
background
PubMed Identifier
23055520
Citation
Menotta 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.
Results Reference
background
PubMed Identifier
26645295
Citation
Pommerening 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.
Results Reference
derived
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Body Composition and Hormonal Status in Ataxia Telangiectasia
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