RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:137577

Neonatal hypoxic and ischemic brain injury

medium confidenceDisorder

Also known as: HIE · Hypoxic and ischemic brain injury in the newborn · Hypoxic-ischemic encephalopathy · Perinatal hypoxia

Publications

19,709

97.7th percentile

Trials

115

Interventional, condition-specific

Researchers

1,196

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, , , and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, , learning disabilities, cognitive impairment, , visual and auditory dysfunction, and cerebral palsy.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    19,709 matched papers (13,511 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    115 matched on ClinicalTrials.gov (31 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

19,709

19,709 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

19,709 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

13,511 in the last 10 years · medium confidence · 97.7th percentile (publications denominator)

Phrase hits: 19,709 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,196

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Zhang J5 papers · 2026

    Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China; School of Mechanics and Engineering Science, Peking University, Beijing, China. Electronic address: zhangjue@pku.edu.cn.

    Papers in Europe PMC
  2. 02
    Chen L4 papers · 2026

    Department of Medical Imaging, The Second Affiliated Hospital of Shantou University Medical College, Shantou, China.

    Papers in Europe PMC
  3. 03
    Li J4 papers · 2026

    Boston Children's Hospital, Boston, MA, USA.

    Papers in Europe PMC
  4. 04
    Li Y4 papers · 2026

    Department of Neurosurgery, The First Affiliated Hospital of Shandong First Medical University, Jinan, China.

    Papers in Europe PMC
  5. 05
    Mohammad K4 papers · 2026

    Section of Neonatology, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada. Electronic address: Khorshid.mohammad@ahs.ca.

    Papers in Europe PMC
  6. 06
    Wang H4 papers · 2026

    Department of Haematology, Sichuan Provincial People's Hospital, Sichuan Academy of Medical Sciences, University of Electronic Science and Technology of China, Chengdu, China. huanwang2@proton.me.

    Papers in Europe PMC
  7. 07
    Branson HM3 papers · 2026

    Department of Diagnostic Imaging and Interventional Radiology, The Hospital for Sick Children, and Department of Medical Imaging, University of Toronto, Toronto, Canada.

    Papers in Europe PMC
  8. 08
    Cizmeci MN3 papers · 2026

    Division of Neonatology, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto, Toronto, Canada. Electronic address: mehmet.cizmeci@sickkids.ca.

    Papers in Europe PMC
  9. 09
    Danguecan A3 papers · 2026

    Division of Neonatology, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto, Toronto, Canada; Department of Psychology, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

    Papers in Europe PMC
  10. 10
    Ferriero DM3 papers · 2026

    Department of Pediatrics and Neurology, University of California San Francisco, Weill Institute for Neurosciences, San Francisco, CA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

115

interventional trials for this specific condition

115 interventional trials matched this specific condition name; 31 currently recruiting in our sample.

Data as of 11 September 2026

115 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.7th percentile).

medium confidence · 98.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

115 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

62 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 28 · after dedupe 28 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 28 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (28)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Neonatal hypoxic and ischemic brain injury — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Neonatal hypoxic and ischemic brain injury" OR "Hypoxic and ischemic brain injury in the newborn" OR "Hypoxic-ischemic encephalopathy" OR "Perinatal hypoxia"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Neonatal hypoxic and ischemic brain injury" OR "Hypoxic and ischemic brain injury in the newborn" OR "Hypoxic-ischemic encephalopathy" OR "Perinatal hypoxia"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 115 interventional · 62 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HIE

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T07:24:50.251Z