Genetics of Neonatal Encephalopathy and Related Disorders
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Neonatal Encephalopathy, Hypoxic Ischaemic Encephalopathy (HIE). Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- Diagnostic yield [Time frame: 10 years]
Eligibility 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)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Boston Children's Hospital — Boston
Identifiers
NCT: NCT07165938 · IRB-P00051611