Actively Recruiting
Genetics of Neonatal Encephalopathy and Related Disorders
Led by Boston Children's Hospital · Updated on 2026-03-11
300
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers at Boston Children's Hospital are investigating the genetic factors that may contribute to neonatal encephalopathy (NE) and related disorders. NE is a condition affecting the central nervous system of term newborns, sometimes without a clear external cause, and can impact health throughout life. This observational study aims to find genetic changes linked to NE to better understand the range of clinical features and outcomes in affected individuals. The study involves children less than 6 years old with a history of NE who receive clinical care at Boston Children's Hospital, along with their biological parents. Genetic sequencing is performed to identify DNA variants that may explain NE, with confirmation of findings through clinical laboratory standards. Participants with a known genetic diagnosis or those who are deceased before enrollment are not eligible. Participants will be followed clinically at the hospital, and researchers will collect and analyze genetic data over a 10-year period to measure the diagnostic yield of this genetic testing. The study focuses on correlating genetic findings with clinical features to improve diagnosis and management. Participation involves ongoing clinical observation and genetic analysis without experimental treatment.
CONDITIONS
Brief Title
Genetics of Neonatal Encephalopathy and Related Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosed with neonatal encephalopathy during the neonatal period as documented in the medical record
- Less than 6 years old at the time of study enrollment
- Patient receiving clinical care at Boston Children's Hospital
- Biological parent of an eligible child
You will not qualify if you...
- Genetic cause of neonatal encephalopathy already identified
- Deceased prior to enrollment
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 10 years
Participants undergo genomic sequencing and genetic analysis to identify DNA variants that may cause or contribute to neonatal encephalopathy.
1 or more visits depending on sequencing and follow-up needs
Duration - Up to 10 years
Participants are followed clinically at Boston Children's Hospital to correlate genetic findings with clinical features over time.
Regular clinical visits as part of routine care
Trial Site Locations
Total: 1 location
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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