Genetics of Neonatal Encephalopathy and Related Disorders

Boston Children's Hospital

Status: Not yet enrolling

Conditions: Neonatal Encephalopathy; Hypoxic Ischaemic Encephalopathy (HIE)

Study type: Observational

Funder types: Other

Identifiers

NCT07165938

IRB-P00051611

Details and patient eligibility

About

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.

Full 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.

Enrollment: 300 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Proband 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

Exclusion Criteria:

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

Parent criteria:

Inclusion Criteria:

- Biological parent of eligible proband (see above)

Trial design

300 participants in 1 patient group

Neonatal Encephalopathy

Description:

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.