Genetics of Neonatal Encephalopathy and Related Disorders

Not yet recruiting

• Conditions: Neonatal Encephalopathy; Hypoxic Ischaemic Encephalopathy (HIE)

• Registration Number: NCT07165938
• Lead Sponsor: Boston Children's Hospital

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.

Study Timeline

• Status Verified: 2025-09
• Study First Submitted: 2025-09-03
• Study First Submitted QC: 2025-09-03
• Last Update Submitted: 2025-09-03
• Study First Posted: 2025-09-10
• Last Update Posted: 2025-09-10
• Study Start: 2025-10-01
• Primary Completion: 2035-09
• Study Completion: 2035-09-01

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 300

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

Exclusion Criteria

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

Parent criteria:

Inclusion Criteria:

- Biological parent of eligible proband (see above)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Diagnostic yield	10 years	The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled participants with NE who receive a genetic diagnosis.

Trial Locations

Locations (1)

Boston Children's Hospital; 🇺🇸 Boston, Massachusetts, United States