Clinical Trial: Body Composition and Hormonal Status in Ataxia Telangiectasia
Study Status: Completed
Recruit Status: Completed
Study Type: Interventional
Official Title: Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls
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 Summary:
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:
- Same as current
Current Secondary Outcome:
Original Secondary Outcome:
Information By: Johann Wolfgang Goethe University Hospital
Dates:
Date Received: January 19, 2015
Date Started: April 2013
Date Completion:
Last Updated: January 22, 2015
Last Verified: January 2015