Genetics of Neonatal Encephalopathy Study
This study at Boston Children's Hospital is looking at the genetic causes of neonatal encephalopathy (NE), a brain disorder in newborns. Researchers want to understand how genetic factors might explain why NE affects people differently. They are looking for children under 6 years old who have been diagnosed with NE at Boston Children's Hospital and do not already have a known genetic cause for their condition. The goal is to identify specific genetic changes that contribute to NE, which could lead to better diagnosis and care. This study is observational, meaning it will involve looking at information already available or collected without giving any new treatments.
- Study design
- This is an observational study aiming to enroll 300 participants. It is not a drug trial and does not involve different treatment groups.
- What's involved
- Not specified in the trial record.
- Compensation
- Not stated in the trial record.
- Follow-up
- The study will measure diagnostic yield (how often a genetic cause is found) at 10 years.
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Genetics of Neonatal Encephalopathy and Related Disorders
At a glance
Conditions
Where it's being run
1 sites across 1 statesWho to contact
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Do you actually qualify for this trial?
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Inclusion
Exclusion
What this trial measures
- Diagnostic yield10 years
The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled participants with NE who receive a genetic diagnosis.