Videoocular Assessment of Eye Movement Activity in an Ataxia Telangiectasia

NCT05471310 | Completed

• 1 other identifier: LB_03/17/22
• Study Type: observational
• Target: 5
• Locations: 1 country
• Sites: 1

Brief Summary

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).

Conditions

Ataxia Telangiectasia; Dysmetria

Keywords

Eye movements; Saccades; Unstable gaze holding; Rehabilitation

Outcome Measures

Primary Outcomes (3)

• Gaze holding task

  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.)

  baseline, during the intervention-rehabilitation course (once)

• Visual search task

  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.

  baseline, during the intervention-rehabilitation course (once)

• Visually guided saccade task

  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°);

  baseline, during the intervention-rehabilitation course (once)

Secondary Outcomes (1)

• Scale for the assessment and rating of ataxia

  baseline, during the intervention-rehabilitation course (once)

Eligibility Criteria

• Age: 8 Years - 17 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

The young citizens of Russia suffered from ataxia telangiectasia.

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Federal Research Institute of Pediatric Hematology, Oncology and Immunology: lead

Study Sites (1)

Clinical Rehabilitation Research Center "Russkoe pole"

Chekhov, 142321, Russia

Location

MeSH Terms

Conditions

Ataxia Telangiectasia; Cerebellar Ataxia

Condition Hierarchy (Ancestors)

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

Study Officials

• Alexander F. Karelin, PhD

  Clinical Rehabilitation Research Center "Russkoe pole"

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 7, 2022
• First Posted: July 22, 2022
• Study Start: March 15, 2021
• Primary Completion: March 31, 2022
• Study Completion: June 30, 2022
• Last Updated: July 22, 2022

Record last verified: 2022-07

Locations

RU (1)