Genetic causes of neonatal encephalopathy and related conditions

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Boston Children's Hospital
  Boston, Massachusetts, United States Recruiting

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.