Neurovisual Function in CHARGE Syndrome

CHARGE Syndrome Clinical Trial

Official title:

Assessment Study of Neurovisual Function in CHARGE Syndrome

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05764980
• Other study ID #: 3373
• Status: Recruiting
• Start date: March 15, 2021
• Est. completion date: January 1, 2024

Study information

• Verified date: March 2023
• Source: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Contact: Giuseppe Zampino, medicine
• Phone: 00393392381870
• Email: giuseppe.zampino[@]unicatt.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

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.

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: January 1, 2024
• Est. primary completion date: March 15, 2023
• Gender: All
• Age group: 0 Years to 90 Years

Eligibility

Inclusion Criteria:

Patients with molecularly confirmed CHARGE syndrome.

Exclusion Criteria:

Patients with CHARGE syndrome that has not been molecularly confirmed

Related Conditions & MeSH terms

• CHARGE Syndrome
• Syndrome

Intervention

Behavioral:
• visual function evaluation
visual function evaluation

Locations

Country	Name	City	State
Italy	Fondazione Policlinico Universitario A. Gemelli Irccs	Roma

Sponsors (1)

Lead Sponsor	Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	To demonstrate the correlation between severity of anatomical impairment and neurovisual ability.	to detect aspects of visual function by studying ocular motility, visual acuity, contrast sensitivity, distance attention, and binocular visual field	4 years