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ORPHA:2406

Locked-in syndrome

low confidenceDisorder

Also known as: LIS · Pseudocoma

Publications

3,645

Trials

16

Interventional, condition-specific

Researchers

926

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurologic disease characterized by severe paralysis of the limbs and the oral structures causing the person to be completely dependent on help in all activities of daily living and communication, while having preserved cognition. Most commonly, the term locked-in syndrome (LIS) is used when the condition is caused by acquired brain injury (as in this text), but sometimes also when referring to the advanced stage of certain neurodegenerative disorders.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

Cerebromedullospinal disconnection · Locked In Syndrome · locked-in state

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

    3,645 matched papers (2,003 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Hearing impairment; Spasticity; Abnormality of the voice) Source

  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

    16 matched on ClinicalTrials.gov (9 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)

16

Associated phenotypes · MONDO:0016567

  • Hearing impairment
  • Spasticity
  • Abnormality of the voice
  • Tetraparesis
  • Abnormality of vision

Showing 5 of 16 — open Monarch for the full list.

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?

3,645

3,645 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.

3,645 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).

2,003 in the last 10 years · low confidence

Phrase hits: 3,645 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

926

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
    Ramsey NF7 papers · 2026

    Department of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, , ,

    Papers in Europe PMC
  2. 02
    Gosseries O5 papers · 2026

    Coma Science Group, GIGA Consciousness, University of Liege, Liege, Belgium.

    Papers in Europe PMC
  3. 03
    Vansteensel MJ5 papers · 2025

    Department of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, , ,

    Papers in Europe PMC
  4. 04
    Branco MP4 papers · 2026

    University Medical Center Utrecht, Netherlands.

    Papers in Europe PMC
  5. 05
    Maby E4 papers · 2025

    Lyon Neuroscience Research Center, INSERM UMRS 1028, CNRS UMR 5292, Université Claude Bernard Lyon 1, Université de Lyon, 69000, Lyon, France.

    Papers in Europe PMC
  6. 06
    Mattout J4 papers · 2025

    Lyon Neuroscience Research Center, INSERM UMRS 1028, CNRS UMR 5292, Université Claude Bernard Lyon 1, Université de Lyon, 69000, Lyon, France. jeremie.mattout@inserm.fr.

    Papers in Europe PMC
  7. 07
    Morlet D4 papers · 2025

    Lyon Neuroscience Research Center, INSERM UMRS 1028, CNRS UMR 5292, Université Claude Bernard Lyon 1, Université de Lyon, 69000, Lyon, France.

    Papers in Europe PMC
  8. 08
    Otman A4 papers · 2025

    Lyon Neuroscience Research Center, INSERM UMRS 1028, CNRS UMR 5292, Université Claude Bernard Lyon 1, Université de Lyon, 69000, Lyon, France.

    Papers in Europe PMC
  9. 09
    Belloli L3 papers · 2025

    Hôpital de la Pitié Salpêtrière, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié, 47 Bd de l'Hôpital, 75013 Paris, France.

    Papers in Europe PMC
  10. 10
    Gobert F3 papers · 2025

    Lyon Neurosciences Research Center, Trajectoires Team, CAP Team, Inserm UMR-S 1028, CNRS UMR 5292, Lyon, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

16

interventional trials for this specific condition

16 interventional trials matched this specific condition name; 9 currently recruiting in our sample.

Data as of 11 September 2026

16 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.2th percentile).

low confidence · 94.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

3 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.

None of the matched observational studies is currently listed as 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Locked-in syndrome — 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.

"Locked-in syndrome" OR "Pseudocoma" OR "Cerebromedullospinal disconnection" OR "Locked In Syndrome" OR "locked-in state"

Run this search on Europe PMC

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

"Locked-in syndrome" OR "Pseudocoma" OR "Cerebromedullospinal disconnection" OR "Locked In Syndrome" OR "locked-in state"

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: 16 interventional · 3 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: LIS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3645) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T20:06:23.919Z