Body Composition and Hormonal Status in Ataxia Telangiectasia

Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls

Sponsors

Lead Sponsor: Johann Wolfgang Goethe University Hospital

Source 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.

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

Overall Status Completed
Start Date April 2013
Completion Date April 2014
Primary Completion Date April 2014
Phase N/A
Study Type Interventional
Primary Outcome
Measure Time Frame
Body mass index 12 months
Enrollment 52
Condition
Intervention

Intervention Type: Procedure

Intervention Name: bioelectrical impedance analysis

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: blood draw

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

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

Gender: All

Minimum Age: 2 Years

Maximum Age: 45 Years

Healthy Volunteers: Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Stefan Zielen, Prof. Dr. Principal Investigator University Childrens´ Hospital Frankfurt
Verification Date

January 2015

Responsible Party

Type: Principal Investigator

Investigator Affiliation: Johann Wolfgang Goethe University Hospital

Investigator Full Name: Stefan Zielen

Investigator Title: Prof. Dr. med.

Keywords
Has Expanded Access No
Condition Browse
Number Of Arms 2
Arm Group

Label: Ataxia telangiectasia

Type: Active Comparator

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

Label: Healthy subjects

Type: Active Comparator

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

Study Design Info

Allocation: Non-Randomized

Intervention Model: Parallel Assignment

Primary Purpose: Supportive Care

Masking: None (Open Label)

Source: ClinicalTrials.gov