Working...
ClinicalTrials.gov
ClinicalTrials.gov Menu

Body Composition and Hormonal Status in Ataxia Telangiectasia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT02345200
Recruitment Status : Completed
First Posted : January 26, 2015
Last Update Posted : January 26, 2015
Sponsor:
Information provided by (Responsible Party):
Stefan Zielen, Johann Wolfgang Goethe University Hospital

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.

Condition or disease Intervention/treatment Phase
Ataxia Telangiectasia Procedure: bioelectrical impedance analysis Procedure: blood draw Not Applicable

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:

  1. 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.
  2. Due to the progressive cerebellar ataxia most of the patients are bound to wheelchair so that their muscle mass is decreased
  3. Impaired muscle strength is related to apraxia, dystonia, contractures and dyskinesia.
  4. Low levels of growth hormones (GH). Extracerebellar MRI - lesions in A-T go along with deficiency of the GH axis thus causing nanism.
  5. Delayed puberty and physical development suggest an abnormal metabolism in muscle cells
  6. 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

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 52 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Supportive Care
Official Title: Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls
Study Start Date : April 2013
Actual Primary Completion Date : April 2014
Actual Study Completion Date : April 2014


Arm Intervention/treatment
Active Comparator: Ataxia telangiectasia
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
Procedure: bioelectrical impedance analysis
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

Procedure: blood draw
blood samples are taken at 8 am in order to pay attention to the circadian rhythmicity to get a detailed hormonal status

Active Comparator: Healthy subjects
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
Procedure: bioelectrical impedance analysis
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

Procedure: blood draw
blood samples are taken at 8 am in order to pay attention to the circadian rhythmicity to get a detailed hormonal status




Primary Outcome Measures :
  1. Body mass index [ Time Frame: 12 months ]


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   2 Years to 45 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02345200


Sponsors and Collaborators
Johann Wolfgang Goethe University Hospital
Investigators
Layout table for investigator information
Principal Investigator: Stefan Zielen, Prof. Dr. University Childrens´ Hospital Frankfurt

Publications:

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Layout table for additonal information
Responsible Party: Stefan Zielen, Prof. Dr. med., Johann Wolfgang Goethe University Hospital
ClinicalTrials.gov Identifier: NCT02345200     History of Changes
Other Study ID Numbers: BIA_AT2014
First Posted: January 26, 2015    Key Record Dates
Last Update Posted: January 26, 2015
Last Verified: January 2015

Keywords provided by Stefan Zielen, Johann Wolfgang Goethe University Hospital:
dystrophy
body composition
malnutrition

Additional relevant MeSH terms:
Layout table for MeSH terms
Ataxia
Cerebellar Ataxia
Ataxia Telangiectasia
Spinocerebellar Ataxias
Telangiectasis
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Vascular Diseases
Cardiovascular Diseases
Neurocutaneous Syndromes
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Immunologic Deficiency Syndromes
Immune System Diseases