Genetic causes of neonatal encephalopathy and related conditions
Genetics of Neonatal Encephalopathy and Related Disorders
This project will see if DNA changes help explain neonatal encephalopathy in children under 6 who receive care at Boston Children's Hospital.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT07165938 on ClinicalTrials.gov |
What this trial studies
This observational effort enrolls children diagnosed with neonatal encephalopathy during the newborn period (and, when available, their biological parents) who are patients at Boston Children's Hospital. Investigators collect clinical information from the medical record and biological samples for genetic testing to look for DNA variants that may cause or contribute to the condition. Genetic findings are then compared with each child's clinical features and outcomes to identify patterns and potential genetic causes. The work is noninterventional and focuses on improving diagnostic understanding rather than testing a treatment.
Who should consider this trial
Good fit: Children diagnosed with neonatal encephalopathy during the neonatal period who are under 6 years old at enrollment and are patients at Boston Children's Hospital, with biological parents eligible to provide samples.
Not a fit: Patients who already have a known genetic cause for their neonatal encephalopathy, who died before enrollment, or who are not patients at Boston Children's Hospital are not likely to benefit from participation.
Why it matters
Potential benefit: If successful, this work could lead to more accurate diagnoses, better genetic counseling for families, and improved management plans for affected children.
How similar studies have performed: Previous genetic sequencing efforts have identified pathogenic variants in some infants with neonatal encephalopathy, but applying genetics broadly to NE is still emerging and not yet definitive for all cases.
Eligibility criteria
Show full inclusion / 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)
Where this trial is running
Boston, Massachusetts
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.