Neurovisual Function in CHARGE Syndrome
Assessment Study of Neurovisual Function in CHARGE Syndrome
Study Overview
Status
Conditions
Intervention / Treatment
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.
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
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Giuseppe Zampino, medicine
- Phone Number: 00393392381870
- Email: giuseppe.zampino@unicatt.it
Study Locations
-
-
-
Roma, Italy, 00168
- Recruiting
- Fondazione Policlinico Universitario A. Gemelli IRCCS
-
Contact:
- GIUSEPPE ZAMPINO, MEDICINA
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
Patients with molecularly confirmed CHARGE syndrome.
Exclusion Criteria:
Patients with CHARGE syndrome that has not been molecularly confirmed
Study Plan
How is the study designed?
Design Details
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
To demonstrate the correlation between severity of anatomical impairment and neurovisual ability.
Time Frame: 4 years
|
to detect aspects of visual function by studying ocular motility, visual acuity, contrast sensitivity, distance attention, and binocular visual field
|
4 years
|
Collaborators and Investigators
Investigators
- Principal Investigator: Giuseppe Zampino, medicine, Fondazione Policlinico Universitario A. gemelli, IRCCS
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 3373
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.