Body Composition and Hormonal Status in Ataxia Telangiectasia
Condition: Ataxia Telangiectasia
MeSH terms: Ataxia; Cerebellar Ataxia; Ataxia Telangiectasia; Telangiectasis
Study type: Interventional

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:

        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
    

Intervention name(s): bioelectrical impedance analysis; blood draw
Intervention type(s): Procedure; Procedure
Intervention description(s): 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 samples are taken at 8 am in order to pay attention to the circadian rhythmicity to get a detailed hormonal status
Allocation: Non-Randomized
Intervention model: Parallel Assignment
Masking: None (Open Label)
Primary purpose: Supportive Care
Keywords: dystrophy; body composition; malnutrition