Body Composition and Hormonal Status in Ataxia Telangiectasia

January 22, 2015 updated by: Stefan Zielen, Johann Wolfgang Goethe University Hospital

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

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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

Study Type

Interventional

Enrollment (Actual)

52

Phase

  • Not Applicable

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 45 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Supportive Care
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Body mass index
Time Frame: 12 months
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Johann Wolfgang Goethe University Hospital

Investigators

  • Principal Investigator: Stefan Zielen, Prof. Dr., University Childrens´ Hospital Frankfurt

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2013

Primary Completion (Actual)

April 1, 2014

Study Completion (Actual)

April 1, 2014

Study Registration Dates

First Submitted

January 19, 2015

First Submitted That Met QC Criteria

January 22, 2015

First Posted (Estimate)

January 26, 2015

Study Record Updates

Last Update Posted (Estimate)

January 26, 2015

Last Update Submitted That Met QC Criteria

January 22, 2015

Last Verified

January 1, 2015

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • BIA_AT2014

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Ataxia Telangiectasia

Clinical Trials on bioelectrical impedance analysis

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Kazakhstan

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe