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ORPHA:90056

Moderate and severe traumatic brain injury

high confidenceDisorder

Publications

2,720

90.4th percentile

Trials

5

Interventional, condition-specific

Researchers

1,080

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurologic condition characterized by brain damage caused by an external mechanical force, with a Glasgow Coma Scale score of 9 to 12 in moderate traumatic brain injury (TBI), or 3 to 8 in severe TBI, respectively. TBI can be closed (with the dura mater remaining intact) or open (with penetration of the dura mater) and may lead to focal damage, such as cerebral contusion and hemorrhage, as well as diffuse axonal injury and secondary damage due to increased intracranial pressure. Signs and symptoms are highly variable, depending on the nature, severity, localization, and extent of the trauma.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

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.”

3/6 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

    2,720 matched papers (1,910 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 designationPartial

    4 EMA designations (none yet with FDA orphan-indication approval) — e.g. 4-Amino-(6R,S)-5,6,7,8-tetrahydro-L-biopterin dihydrochloride (ronopterin) Source

  6. Interventional trialPresent

    5 matched on ClinicalTrials.gov

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)

4

Designations · no FDA orphan-indication approval yet

  • EMA 4-Amino-(6R,S)-5,6,7,8-tetrahydro-L-biopterin dihydrochloride (ronopterin)Treatment of moderate and severe traumatic brain injury · 28/08/2006 · PositiveEMA designation
  • EMA N-3[[4-(aminoiminomethyl)benzoyl]amino]propyl]-1-[[2,4—dichloro-3-[[2,4-dimethyl-8-quinolinyl)oxy]methyl]phenyl]sulphonyl]-(2S)-2-pyrrolidinecarboxamide, di(methanesulfonate)Treatment of moderate and severe traumatic brain injury · 23/02/2007 · PositiveEMA designation
  • EMA apomorphine hydrochlorideTreatment of moderate and severe traumatic brain injury · 13/05/2011 · PositiveEMA designation
  • EMA progesteroneTreatment of moderate and severe traumatic brain injury · 08/02/2013 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

2,720

2,720 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,720 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).

1,910 in the last 10 years · high confidence · 90.4th percentile (publications denominator)

Phrase hits: 2,720 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,080

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
    Teasell R12 papers · 2025

    Parkwood Institute Research, Lawson Research Institute, London, Ontario, Canada.

    Papers in Europe PMC
  2. 02
    MacKenzie HM11 papers · 2025

    Parkwood Institute Research, Lawson Research Institute, London, Ontario, Canada.

    Papers in Europe PMC
  3. 03
    Bateman EA9 papers · 2025

    Parkwood Institute Research, Lawson Research Institute, London, Ontario, Canada.

    Papers in Europe PMC
  4. 04
    Flores-Sandoval C9 papers · 2025

    Parkwood Institute Research, Lawson Research Institute, London, Ontario, Canada.

    Papers in Europe PMC
  5. 05
    Bayley M8 papers · 2024

    Division of Physical Medicine and Rehabilitation, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC
  6. 06
    Mehta S6 papers · 2025

    Author Affiliations: Parkwood Institute Research, Lawson Research Institute, London, Ontario, Canada (Drs Mehta and Teasell); Department of Physical Medicine and Rehabilitation, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada (Drs Mehta, Teasell, and MacKenize); Parkwood Institute, St. Joseph's Health Care London, London, Canada (Drs Mehta, Teasell, and MacKenize); Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada (Mss Lauren Devito and Julia Devito); Rehabilitation Sciences Institute, University of Toronto, Toronto, Ontario, Canada (Ms Patsakos and Dr Bayley); KITE Research Institute, Toronto Rehabilitation Institute-University Health Network, Toronto, Ontario, Canada (Ms Patsakos); Acquired Brain Injury Program, Hamilton Health Sciences, Hamilton, Ontario, Canada (Dr Velikonja); Department of Psychiatry and Behavioural Neurosciences, DeGroote School of Medicine, McMaster University, Hamilton, Ontario, Canada (Dr Velikonja); Division of Physical Medicine and Rehabilitation, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada (Dr Bayley); and University Health Network, Toronto Rehabilitation Institute, Toronto, Ontario, Canada (Dr Bayley).

    Papers in Europe PMC
  7. 07
    Barber J5 papers · 2026

    Department of Neurological Surgery, University of Washington, Seattle, WA, USA.

    Papers in Europe PMC
  8. 08
    McDonald S5 papers · 2026

    School of Psychology, University of New South Wales, Sydney, NSW, Australia.

    Papers in Europe PMC
  9. 09
    Ownsworth T5 papers · 2026

    School of Applied Psychology & The Hopkins Centre, Griffith University, Brisbane, Australia.

    Papers in Europe PMC
  10. 10
    Wearne T5 papers · 2026

    School of Psychology, Western Sydney University, Sydney, NSW, Australia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

high confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same 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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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 (40)

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 Moderate and severe traumatic 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.

"Moderate and severe traumatic brain injury"

Run this search on Europe PMC

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

"Moderate and severe traumatic brain injury"

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: 5 interventional · 0 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T03:32:55.296Z