Neonatal EncephalopathyNCT07165938
Genetics of Neonatal Encephalopathy and Related Disorders
An observational study of Neonatal Encephalopathy and Hypoxic Ischaemic Encephalopathy (HIE), run by Boston Children's Hospital at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neonatal Encephalopathy, Hypoxic Ischaemic Encephalopathy (HIE)
- How many people
- 300 participants
- Where
- 1 siteUnited States
- Study dates
- 4 Feb 2026to Sep 2035
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients at Boston Children's Hospital and available biological parents
Who may be able to join
- 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
- Biological parent of eligible proband (see above)
Who cannot join
- Genetic cause of NE already identified
- Deceased prior to enrollment
- Parent criteria:
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
D'Gama Lab, 617-355-5254, dgamalab@childrens.harvard.edu
Alissa D'Gama, MD, PhD
About this study
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.
Read the detailed description
Neonatal encephalopathy (NE) is a disorder of term newborns involving dysfunction of the central nervous system and can impact one's health throughout the lifespan. While NE can be caused by a number of exposures or external factors, in some cases there is no cause identified or the severity of the condition cannot fully be explained by external factors. In these cases, there is increasing evidence to suggest underlying genetic factors may contribute to NE.
The investigators' research effort is focused on identifying genetic changes (known as "DNA variants") that cause or contribute to NE. By doing so the investigators hope to improve diagnosis and management of NE.
We have two specific aims:
Aim 1: To identify genetic causes of and contributors to NE and related disorders.
Aim 2: To correlate genetic findings with clinical features.
- Medical subject headings
- Hypoxia-Ischemia, Brain
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic yield
The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled participants with NE who receive a genetic diagnosis.
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Sep 2025
- Study start4 Feb 2026
- Primary completionSep 2035 (estimated)
- Study completionSep 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neonatal EncephalopathyStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Alissa D'Gama, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07165938
- Sponsor's protocol ID
- IRB-P00051611
- Status last verified
- Mar 2026
- First submitted
- 3 Sep 2025
- Last updated
- 11 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: De-identified clinical and genomic data may be shared with approved researchers at Boston Children's Hospital and with approved external collaborators.
Study at a glance
From the registry record, last updated by the sponsor on 11 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetics of Neonatal Encephalopathy and Related Disorders
- ClinicalTrials.gov ID
- NCT07165938
- Acronym / sponsor ID
- IRB-P00051611
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Study start
- 4 Feb 2026 (actual)
- Primary completion
- Sep 2035 (estimated)
- Study completion
- Sep 2035 (estimated)
- First posted
- 10 Sep 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Neonatal encephalopathy (NE) is a disorder of term newborns involving dysfunction of the central nervous system and can impact one's health throughout the lifespan. While NE can be caused by a number of exposures or external factors, in some cases there is no cause identified or the severity of the condition cannot fully be explained by external factors. In these cases, there is increasing evidence to suggest underlying genetic factors may contribute to NE.
The investigators' research effort is focused on identifying genetic changes (known as "DNA variants") that cause or contribute to NE. By doing so the investigators hope to improve diagnosis and management of NE.
We have two specific aims:
Aim 1: To identify genetic causes of and contributors to NE and related disorders.
Aim 2: To correlate genetic findings with clinical features.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients at Boston Children's Hospital and available biological parents
Key inclusion criteria (4 listed)
- 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
- Biological parent of eligible proband (see above)
Key exclusion criteria (3 listed)
- Genetic cause of NE already identified
- Deceased prior to enrollment
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Diagnostic yield
Time frame: 10 years
The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled participants with NE who receive a genetic diagnosis.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Mar 2026.
- Individual participant dataSharing planned: Yes. De-identified clinical and genomic data may be shared with approved researchers at Boston Children's Hospital and with approved external collaborators.
Related trials for Neonatal Encephalopathy
Not yet recruitingObservational study
This Multicentre Study Compares aCUP-E With Standard Electrodes During aEEG Monitoring in NICU Newborns at Risk of Encephalopathy, Assessing Recording Quality, Reliability, Ease of Use and Safety.
Encephalopathy
RecruitingPhase 2
The PROTECT-HIE Pilot Trial
Hypoxic-ischemic Encephalopathy (HIE)
RecruitingPhase 2/3
A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of RLS-0071 in Newborns With Moderate or Severe Hypoxic-Ischemic Encephalopathy Undergoing Therapeutic Hypothermia
Hypoxic-Ischemic Encephalopathy
Active, not recruitingPhase 2
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Mucopolysaccharidosis Disorders, Hurler Syndrome
RecruitingObservational study
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neonatal Encephalopathy and Hypoxic Ischaemic Encephalopathy (HIE), run by Boston Children's Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 11 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic yield (time frame: 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Mar 2026.