Cerebral/ Cortical Visual Impairment: Screening, Identification and Outcome Prediction in Neonates

NCT ID: NCT07275021

Last Updated: 2025-12-10

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 60 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-07-07
• Study Completion Date: 2028-12-31

Brief Summary

Cerebral/Cortical Visual Impairment (CVI) is the leading cause of childhood visual impairment in the United States and other industrialized countries. CVI is a brain-based visual disorder in which visual acuity or visual fields are reduced despite a normal eye examination or greater-than-expected visual impairment relative to ocular pathology. CVI is increasingly recognized in children with neurological conditions, yet it often remains undiagnosed until later childhood, delaying opportunities for early intervention.

Population-based studies suggest that CVI is more common than previously understood. Recent estimates indicate that over 180,000 individuals in the United States aged 0-22 years may have diagnosed or likely CVI, with only a minority formally identified. Children with CVI frequently have co-occurring neurological conditions, including cerebral palsy, epilepsy, developmental delays, or genetic disorders. Infants born preterm or with conditions such as hypoxic-ischemic encephalopathy (HIE), perinatal stroke, or white matter injury are at particularly high risk. Prospective research also shows that a substantial proportion of infants born very preterm exhibit behavioral features of CVI later in childhood.

Despite improvements in neonatal neurocritical care, early detection of CVI remains challenging. Current clinical practice focuses on managing conditions such as HIE, perinatal stroke, periventricular leukomalacia, and other brain injuries, but there is limited research evaluating structured early identification pathways for CVI in infancy. Diagnostic tools such as brain MRI and Visual Evoked Potentials (VEP) have shown potential for identifying brain-based visual dysfunction, but their integration into early predictive models for CVI has not been fully explored.

This study addresses a critical gap in pediatric care by prospectively evaluating high-risk neonates using clinical, neuroimaging, neurophysiologic, and standardized developmental assessments through 24 months of age. Early identification of CVI may support timely referral for visual rehabilitation and developmental services, potentially improving long-term functional outcomes. Developing a predictive model for early CVI detection will contribute to improved clinical pathways, enhance early diagnosis, and reduce the long-term educational and social burden associated with undetected CVI. Ultimately, this research aims to improve outcomes and quality of life for infants at risk for brain-based visual impairment.

Detailed Description

The study is a prospective observational study designed to follow preterm and term infants who are at high risk for Cerebral/ Cortical Visual Impairment (CVI). Preterm Infants born before 32 weeks gestational age with conditions such germinal matrix/intraventricular hemorrhage (IVH), white matter injury (WMI including periventricular leukomalacia (PVL), and late term and term infants with Hypoxic-Ischemic Encephalopathy (HIE) or prenatal Stroke will be enrolled during the neonatal intensive care unit (NICU) stay and monitored through a structured follow-up schedule. The study focuses on data collection using advanced diagnostic imaging and neurodevelopmental assessments without introducing randomization or experimental interventions.

Conditions

Preterm Less Than 32wks With IVH, WMI/PVL; Late Preterm or Term (37-42wks) With Neonatal Encephalopathy Treated With Hypothermia for HIE

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Preterm/Term High-Risk Infants

Infants at high risk for Cerebral/Cortical Visual Impairment (CVI), including preterm infants with IVH or white matter injury, term or late preterm infants with hypoxic-ischemic encephalopathy (HIE), and infants with perinatal stroke. Participants are followed prospectively and undergo standardized clinical, neuroimaging, neurophysiologic, and developmental assessments through 24 months of age.

Prospective Clinical and Neurodevelopmental Data Collection

Intervention Type: OTHER

Participants undergo standardized collection of clinical, neuroimaging, neurophysiologic, visual assessment and neurodevelopmental data as part of this prospective observational study. Data include information obtained from clinical care and scheduled follow-up assessments through 24 months of age. No interventions are assigned.

Interventions

Prospective Clinical and Neurodevelopmental Data Collection

Participants undergo standardized collection of clinical, neuroimaging, neurophysiologic, visual assessment and neurodevelopmental data as part of this prospective observational study. Data include information obtained from clinical care and scheduled follow-up assessments through 24 months of age. No interventions are assigned.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Preterm infants born < 32 weeks gestational age with any of the following:
• Germinal matrix/intraventricular hemorrhage (IVH)
• White matter injury (WMI), including periventricular leukomalacia (PVL)
• Late preterm infants (born 34-36 weeks gestation) or term infants (born 37-42 weeks gestation) with:
• Neonatal encephalopathy treated with therapeutic hypothermia for suspected hypoxic-ischemic encephalopathy (HIE)
• Infants diagnosed with perinatal stroke

Parent(s) or legal guardian(s) willing and able to provide informed consent

Exclusion Criteria

Neonates whose parent(s) or guardian(s) cannot commit to long-term follow-up

• Minimum Eligible Age: 31 Weeks
• Maximum Eligible Age: 42 Weeks
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Boston Children's Hospital

OTHER

Sponsor Role: collaborator

Brigham and Women's Hospital

OTHER

Sponsor Role: lead

Responsible Party

Mohamed El-Dib, MD

Director, Neonatal Neurocritical Care Department of Pediatrics, Division of Newborn Medicine, Brigham and Women's Hospital Associate Professor of Pediatrics, Harvard Medical School President, Newborn Brain Society

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Mohamed El-Dib, MD

Role: PRINCIPAL_INVESTIGATOR

Brigham and Women's Hospital

Locations

Brigham and Women's Hospital, and Boston Children's Hospital

Boston, Massachusetts, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Mohamed El-Dib, MD

Role: CONTACT

mel-dib@bwh.harvard.edu

+15712016409

Mohamed El-Dib

Role: CONTACT

Facility Contacts

Mohamed El-Dib, MD,

Role: primary

References

Chang MY, Borchert MS. Advances in the evaluation and management of cortical/cerebral visual impairment in children. Surv Ophthalmol. 2020 Nov-Dec;65(6):708-724. doi: 10.1016/j.survophthal.2020.03.001. Epub 2020 Mar 19.

Reference Type: BACKGROUND

PMID: 32199940 (View on PubMed)

Pilling RF, Allen L, Bowman R, Ravenscroft J, Saunders KJ, Williams C. Clinical assessment, investigation, diagnosis and initial management of cerebral visual impairment: a consensus practice guide. Eye (Lond). 2023 Jul;37(10):1958-1965. doi: 10.1038/s41433-022-02261-6. Epub 2022 Oct 18.

Reference Type: BACKGROUND

PMID: 36258009 (View on PubMed)

Sakki HEA, Dale NJ, Sargent J, Perez-Roche T, Bowman R. Is there consensus in defining childhood cerebral visual impairment? A systematic review of terminology and definitions. Br J Ophthalmol. 2018 Apr;102(4):424-432. doi: 10.1136/bjophthalmol-2017-310694. Epub 2017 Nov 16.

Reference Type: BACKGROUND

PMID: 29146757 (View on PubMed)

Other Identifiers

2025P001413

Identifier Type: -

Identifier Source: org_study_id