Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia

Summary

Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability and cancer susceptibility. The immunodeficiency is expressed by recurring infections. It's characterised by decreased lymphocytes data as well as lack of immunglobulin A, immunglobulin G subclasses and specific antibodies against pneumococcus. Aim of the present clinical trial is to investigate frequency-, intensity- and duration of the infections as well as changes oft immune status, dimension of liver disease and tumor risk in patients with A-T, with and without immunoglobulin G substitution therapy. Transient elastography (FibroScan) will be performed in order to measure liver stiffness as an indication of fatty liver and liver fibrosis. A bioelectrical impedance analysis (BIA) is conducted to investigate the exact body composition. Ataxia Score is determined to define neurological problems. Every subject receives a diary to compile symptoms of infection.

Conditions

• Ataxia Telangiectasia

Interventions

DIAGNOSTIC_TEST

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

DIAGNOSTIC_TEST

blood draw

Blood samples are taken from sober patients

DIAGNOSTIC_TEST

transient elastography (FibroScan)

FibroScan is a noninvasive tool to measure liver stiffness as an indication of fatty liver and liver fibrosis using ultrasound

DIAGNOSTIC_TEST

ataxia score

Klockgether ataxia score ranges from 0 to 35 points in which 0 means no symptoms and 35 stands for final stage of disease. It includes seven ataxia associated symptoms: dysarthria, intention tremor, ataxia of gait, stance, dysdiadochokinesia, upper limb and lower limb

DIAGNOSTIC_TEST

Five-Times-Sit-to-Stand Test

The test measures the complete time which is necessary for an individual to stand up and sit down on a chair five times in series

Sponsors & Collaborators

• Johann Wolfgang Goethe University Hospital

  lead OTHER

Principal Investigators

• Stefan Zielen, Prof. Dr. · Children's Hospital, Allergology, Pneumology and Cystic Fibrosis, Goethe-University

Study Design

Allocation

NA

Purpose

DIAGNOSTIC

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

2 Years

Max Age

45 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2016-10-01

Primary Completion

2018-09-30

Completion

2019-09-30

Countries

• Germany

Study Locations