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ORPHA:71211

Neuromyelitis optica spectrum disorder

high confidenceDisorder

Also known as: Devic disease · NMOSD

Publications

8,801

98.3th percentile

Trials

103

Interventional, condition-specific

Researchers

1,402

Distinct authors in sample

Gene link

AQP4, C5orf47, FAM194C

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.

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

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Neuromyelitis Optica Spectrum Disorder

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 identifiedPresent

    Limited — AQP4, C5orf47, FAM194C, ZNF606

  2. LiteraturePresent

    8,801 matched papers (8,009 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    103 matched on ClinicalTrials.gov (39 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?

Possibly — only limited evidence so far for AQP4, C5orf47, FAM194C….

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

8,801

8,801 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=5449) is 41.

8,801 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

8,009 in the last 10 years · high confidence · 98.3th percentile (publications denominator)

Phrase hits: 8,554 · MeSH hits: 431

Open Europe PMC search

Who's working on it?

1,402

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
    Liu Y9 papers · 2026

    Hebei Key Laboratory of Neuroimmunological Regulation and Mental Health, The First Hospital of Hebei Medical University, Shijiazhuang, China.

    Papers in Europe PMC
  2. 02
    Zhang Y9 papers · 2026

    Key Laboratory for Medicinal Resources and Natural Pharmaceutical Chemistry, Ministry of Education, College of Life Sciences, Shaanxi Normal University, Xi'an 710119, China.

    Papers in Europe PMC
  3. 03
    Mirmosayyeb O8 papers · 2026

    Isfahan Neurosciences Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

    Papers in Europe PMC
  4. 04
    Shaygannejad V8 papers · 2026

    Isfahan Neurosciences Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

    Papers in Europe PMC
  5. 05
    Vaheb S8 papers · 2026

    Isfahan Neurosciences Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

    Papers in Europe PMC
  6. 06
    Wang Y8 papers · 2026

    Department of Respirology, Hebei children's Hospital, Hebei Clinical Medicine Research Center for Children's Health and Diseases, Shijiazhuang, China.

    Papers in Europe PMC
  7. 07
    Li J7 papers · 2026

    Department of Thyroid and Breast Surgery, Chengdu Fifth People's Hospital, Chengdu, Sichuan, China.

    Papers in Europe PMC
  8. 08
    Li Y7 papers · 2026

    The Fourth School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou First People's Hospital, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  9. 09
    Paul F7 papers · 2026

    Experimental and Clinical Research Center, Max Delbrueck Center for Molecular Medicine and Charité-Universiaätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, 10117 Berlin, Germany.

    Papers in Europe PMC
  10. 10
    Zhang X7 papers · 2026

    Key Laboratory for Medicinal Resources and Natural Pharmaceutical Chemistry, Ministry of Education, College of Life Sciences, Shaanxi Normal University, Xi'an 710119, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

103

interventional trials for this specific condition

103 interventional trials matched this specific condition name; 39 currently recruiting in our sample.

Data as of 27 July 2026 · last trial check 27 July 2026

103 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.5th percentile).

high confidence · 98.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

57 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Neuromyelitis optica spectrum disorder" OR "Devic disease" OR "NMOSD"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Neuromyelitis Optica

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

"Neuromyelitis optica spectrum disorder" OR "Devic disease" OR "NMOSD" OR "Neuromyelitis Optica" OR "AQP4" OR "C5orf47" OR "FAM194C"

Recall-expansion terms: AQP4, C5orf47, FAM194C

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

Study-type breakdown: 103 interventional · 57 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

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 2026-07-27T01:38:25.059Z