Videoocular Assessment of Eye Movement Activity in an Ataxia Telangiectasia

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

5 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-03-15

Study Completion Date

2022-06-30

Brief Summary

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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).

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Detailed Description

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Conditions

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Ataxia Telangiectasia Dysmetria

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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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.

Minimum Eligible Age

8 Years

Maximum Eligible Age

17 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes