Skip to main content
OpenTrials
Completed

NCT Number: NCT05471310

Videoocular Assessment of Eye Movement Activity in an Ataxia Telangiectasia

Ataxia-telangiectasia (A-T) is a multisystem auto-somal recessive disorder linked to the A-T mutated gene (ATM) on chromosome 11q22-23, and characterized by progressive neural degeneration, immunodeficiency, and progressive ocular motor dysfunction. In previous studies, the quantitative description of the ocular motor deficits from clinical examination was limited to various defects in saccade and gaze control, dysmetric saccades, impairments of smooth pursuit, gaze holding, convergence, vestibular and optokinetic nystagmus slow phases, and cancellation of the vestibulo-ocular reflex. The aim of our research is to add existing findings with quantitative description of oculomotor patterns in A-T patients using videooculography (VOG).

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Ataxia Telangiectasia Ataxia Brain Diseases Cardiovascular Diseases Central Nervous System Diseases Cerebellar Ataxia Cerebellar Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Dyskinesias Dysmetria Genetic Diseases, Inborn Immune System Diseases Immunologic Deficiency Syndromes Metabolic Diseases Nervous System Diseases Neurocutaneous Syndromes Neurologic Manifestations Nutritional and Metabolic Diseases Pathological Conditions, Signs and Symptoms Primary Immunodeficiency Diseases Signs and Symptoms Spinocerebellar Ataxias Telangiectasis Vascular Diseases

Age range

8 year–17 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Clinical Rehabilitation Research Center "Russkoe pole"

Chekhov, 142321, Russia

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • confirmed diagnosis of ataxia telangiectasia,
  • informed consent,
  • stay at the Clinical Research Rehabilitation Center "Russkoe Pole" for 14 days.

Exclusion criteria

  • epilepsy,
  • poor visual acuity, inability to percept from a computer monitor,
  • inability to hold head and posture satisfactory to perform the tasks,
  • difficulty to obtain adequate recordings due to corrective lenses,
  • visual field defects.

Treatment and study plan

Primary outcomes

  1. Gaze holding task

    Time frame: baseline, during the intervention-rehabilitation course (once)

    A fixation task in which the subject will require to look at a target-a green circle (diameter ~1) sequentially presented at eccentric (15 rightward and leftward, 8 upward and downward) positions, each eccentric position being sustained for 20 s. Gaze-holding score will be assessed for each circle by approximating the gaze position coordinates by the least squares method to obtain the best correspondence using the fit function. The areas of the obtained ellipses, reflecting the spread of gaze position coordinates, will be determined for each of the four circle positions in each subject. Areas will be expressed in square visual degrees (sq. deg.)

  2. Visual search task

    Time frame: baseline, during the intervention-rehabilitation course (once)

    Ten black circles (diameter ~1) will be presented on the monitor distributed pseudorandomly over the screen. Subjects will be instructed to count silently the number of points and give a verbal response. Study parameters: the performance time, the number of fixations, their durations, the total length of the scanning trajectory, and the saccade amplitude.

  3. Visually guided saccade task

    Time frame: baseline, during the intervention-rehabilitation course (once)

    The subject will be required to follow a target jumping their gaze from one corner of the square to the next as quickly as possible as soon as a circle appeared; saccades will be required in order to do this (An image of a square with side length 10° will be presented on the monitor and a red circle (diameter ~1°) appeared in the corners sequentially in the clockwise direction.) Study parameters: the total number of saccades completed, the proportions of relatively accurate (A in the range 8.5-11.5°), hypometric (short, A < 8.5°), and hypermetric (long, A > 11.5°), and corrective saccades (occurring only after dysmetric saccades, 1.5° < A < 5°);

Secondary outcomes

  1. Scale for the assessment and rating of ataxia

    Time frame: baseline, during the intervention-rehabilitation course (once)

    A clinical scale that is based on a semi-quantitative assessment of cerebellar ataxia on an impairment level.

Sponsors and collaborators

Lead sponsor

Federal Research Institute of Pediatric Hematology, Oncology and Immunology

Other

Registry information

Official study title

Eye-tacking Method as a Diagnostic Tool for Assessment of Oculomotor Parameters (Gaze-holding Score, Scan Path, Visually Guided Saccades Etc) in Pediatric Patients With Ataxia Telangiectasia

Important dates

Study start
2021
Primary completion
2022
Study completion
2022
First posted
Jul 22, 2022
Registry last updated
Jul 22, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.