Neurovisual Function in CHARGE Syndrome

NCT ID: NCT05764980

Last Updated: 2023-03-13

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

UNKNOWN

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-03-15

Study Completion Date

2024-01-01

Brief Summary

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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

Detailed Description

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CHARGE syndrome is a malformative condition characterized by coloboma in about 70-95% of patients. This anatomical abnormality results in severe visual impairment that strongly affects the characterization of the disability profile.

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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CHARGE Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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visual function evaluation

visual function evaluation

Intervention Type BEHAVIORAL

Eligibility Criteria

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Inclusion Criteria

Patients with molecularly confirmed CHARGE syndrome.

Exclusion Criteria

Patients with CHARGE syndrome that has not been molecularly confirmed
Minimum Eligible Age

0 Years

Maximum Eligible Age

90 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Fondazione Policlinico Universitario Agostino Gemelli IRCCS

OTHER

Sponsor Role lead

Responsible Party

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Zampino Giuseppe

Associate Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

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

Site Status RECRUITING

Countries

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Italy

Central Contacts

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Giuseppe Zampino, medicine

Role: CONTACT

00393392381870

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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