Study Results
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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UNKNOWN
20 participants
OBSERVATIONAL
2021-03-15
2024-01-01
Brief Summary
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Detailed Description
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Although the ocular anatomical deficits associated with the syndrome have been extensively described in the literature, coloboma being a major criterion for diagnosis, little is reported about the characteristics of visual function, such as acuity, visual field ocular motility, and other features.
Patients with CHARGE syndrome have multiple sensory deficif often accompanied by intellectual disability, which often makes the classical methods used in ophthalmologic evaluation inapplicable. According to the few studies in the literature, visual acuity in patients with CHARGE syndrome is often severely impaired with mean values below 20/60 (McMain et al 2008; Nishina et al 2012; Russell-Eggitt et al. 1990; Stromland et al. 2005; Tellier et al. 1998) However in opposition to the recurrent pessimistic findings resulting from ophthalmologic assessment in clinical practice, such patients present with good visual and adaptive abilities in daily life.
The rationale of the study is to analyze visual function and correlate them with adaptive functions in patients with CHARGE syndrome in order to identify a pattern of specific indicators to enable better patient care
Conditions
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Study Design
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COHORT
PROSPECTIVE
Interventions
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visual function evaluation
visual function evaluation
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
0 Years
90 Years
ALL
No
Sponsors
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Fondazione Policlinico Universitario Agostino Gemelli IRCCS
OTHER
Responsible Party
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Zampino Giuseppe
Associate Professor
Principal Investigators
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Giuseppe Zampino, medicine
Role: PRINCIPAL_INVESTIGATOR
Fondazione Policlinico Universitario A. Gemelli, IRCCS
Locations
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Fondazione Policlinico Universitario A. Gemelli Irccs
Roma, , Italy
Countries
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Central Contacts
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Facility Contacts
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GIUSEPPE ZAMPINO, MEDICINA
Role: primary
Other Identifiers
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3373
Identifier Type: -
Identifier Source: org_study_id
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