Neurovisual Function in CHARGE Syndrome

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS (Other)

Overall Status

Recruiting

CT.gov ID

NCT05764980

Collaborator

(none)

Enrollment

Location

33.6

Anticipated Duration (Months)

0.6

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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

Condition or Disease	Intervention/Treatment	Phase
CHARGE Syndrome	Behavioral: visual function evaluation

Detailed Description

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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

20 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Assessment Study of Neurovisual Function in CHARGE Syndrome

Actual Study Start Date :

Mar 15, 2021

Anticipated Primary Completion Date :

Mar 15, 2023

Anticipated Study Completion Date :

Jan 1, 2024

Outcome Measures

Primary Outcome Measures

To demonstrate the correlation between severity of anatomical impairment and neurovisual ability. [4 years]
to detect aspects of visual function by studying ocular motility, visual acuity, contrast sensitivity, distance attention, and binocular visual field

Eligibility Criteria

Criteria

Ages Eligible for Study:

0 Years to 90 Years

Sexes Eligible for Study:

All

Inclusion Criteria:

Patients with molecularly confirmed CHARGE syndrome.

Exclusion Criteria:

Patients with CHARGE syndrome that has not been molecularly confirmed

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Fondazione Policlinico Universitario A. Gemelli Irccs	Roma		Italy	00168

Sponsors and Collaborators

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Investigators

Principal Investigator: Giuseppe Zampino, medicine, Fondazione Policlinico Universitario A. Gemelli, IRCCS

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Zampino Giuseppe, Associate Professor, Fondazione Policlinico Universitario Agostino Gemelli IRCCS

ClinicalTrials.gov Identifier:

NCT05764980

Other Study ID Numbers:

3373

First Posted:

Mar 13, 2023

Last Update Posted:

Mar 13, 2023

Last Verified:

Mar 1, 2023

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by Zampino Giuseppe, Associate Professor, Fondazione Policlinico Universitario Agostino Gemelli IRCCS

CHARGE syndrome

Visual function

Additional relevant MeSH terms:

CHARGE Syndrome

Syndrome

Study Results

No Results Posted as of Mar 13, 2023