Genetics of Neonatal Encephalopathy and Related Disorders

NCT07165938 | Recruiting

• 1 other identifier: IRB-P00051611
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Neonatal Encephalopathy; Hypoxic Ischaemic Encephalopathy (HIE)

Outcome Measures

Primary Outcomes (1)

• Diagnostic yield

  The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled participants with NE who receive a genetic diagnosis.

  10 years

Study Arms (1)

Neonatal Encephalopathy

Individuals with a history of NE who are less than 6 years old at the time of enrollment and available biological parents. Must be followed clinically at Boston Children's Hospital. Research genomic sequencing with CLIA confirmation of diagnostic findings. Those with an existing genetic diagnosis or who are deceased prior to enrollment are ineligible.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients at Boston Children's Hospital and available biological parents

You may qualify if:

• 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

You may not qualify if:

• Genetic cause of NE already identified
• Deceased prior to enrollment
• Parent criteria:
• \- Biological parent of eligible proband (see above)

Sponsors & Collaborators

• Boston Children's Hospital: lead

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

DNA, blood, saliva, buccal, tissue samples

MeSH Terms

Conditions

Hypoxia-Ischemia, Brain

Condition Hierarchy (Ancestors)

Brain Ischemia; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hypoxia, Brain; Vascular Diseases; Cardiovascular Diseases; Hypoxia; Signs and Symptoms, Respiratory; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor of Pediatrics

Study Record Dates

• First Submitted: September 3, 2025
• First Posted: September 10, 2025
• Study Start: February 4, 2026
• Primary Completion (Estimated): September 1, 2035
• Study Completion (Estimated): September 1, 2035
• Last Updated: March 11, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share

Locations

US (1)