Genetics of Neonatal Encephalopathy and Related Disorders

NCT ID: NCT07165938

Last Updated: 2025-09-10

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-10-31
• Study Completion Date: 2035-09-30

Brief Summary

Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to neonatal encephalopathy (NE) and related disorders. These findings may help explain the broad spectrum of clinical features and outcomes seen in individuals with a history of NE.

Detailed Description

Neonatal encephalopathy (NE) is a disorder of term newborns involving dysfunction of the central nervous system and can impact one's health throughout the lifespan. While NE can be caused by a number of exposures or external factors, in some cases there is no cause identified or the severity of the condition cannot fully be explained by external factors. In these cases, there is increasing evidence to suggest underlying genetic factors may contribute to NE.

The investigators' research effort is focused on identifying genetic changes (known as "DNA variants") that cause or contribute to NE. By doing so the investigators hope to improve diagnosis and management of NE.

We have two specific aims:

Aim 1: To identify genetic causes of and contributors to NE and related disorders.

Aim 2: To correlate genetic findings with clinical features.

Conditions

Neonatal Encephalopathy; Hypoxic Ischaemic Encephalopathy (HIE)

Study Design

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

Study Groups

Neonatal Encephalopathy

Individuals with a history of NE who are less than 6 years old at the time of enrollment and available biological parents. Must be followed clinically at Boston Children's Hospital. Research genomic sequencing with CLIA confirmation of diagnostic findings. Those with an existing genetic diagnosis or who are deceased prior to enrollment are ineligible.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• Diagnosed with neonatal encephalopathy during the neonatal period as documented in the electronic medical record
• Less than 6 years old at the time of study enrollment
• Patient at Boston Children's Hospital

• Biological parent of eligible proband (see above)

Exclusion Criteria

• Genetic cause of NE already identified
• Deceased prior to enrollment

Parent criteria:

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Boston Children's Hospital

OTHER

Sponsor Role: lead

Responsible Party

Alissa D'Gama

Assistant Professor of Pediatrics

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

Boston Children's Hospital

Boston, Massachusetts, United States

Countries

United States

Facility Contacts

D'Gama Lab

Role: primary

dgamalab@childrens.harvard.edu

617-355-5254

Other Identifiers

IRB-P00051611

Identifier Type: -

Identifier Source: org_study_id