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Clinical Trial 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).


Clinical Trial Description

n/a


Study Design


Related Conditions & MeSH terms


NCT number NCT05471310
Study type Observational
Source Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Contact
Status Completed
Phase
Start date March 15, 2021
Completion date June 30, 2022

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