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ORPHA:71211

Neuromyelitis optica spectrum disorder

high confidenceDisorder

Also known as: Devic disease · NMOSD

Publications

25,100

98.5th percentile

Trials

102

Interventional, condition-specific

Researchers

1,402

Distinct authors in sample

Gene link

AQP4, C5orf47, FAM194C

Limited

Readiness

6/6

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.”

6/6 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

    25,100 matched papers (19,856 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Visual loss; Myelitis; Optic neuritis) Source

  4. Animal modelPresent

    2 genotype models (Rattus norvegicus) Source

  5. Orphan designationPresent

    5 FDA designations (2 FDA orphan-indication approvals) — e.g. ublituximab Source

  6. Interventional trialPresent

    102 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)

17

Associated phenotypes · MONDO:0019100

  • Visual loss
  • Myelitis
  • Optic neuritis
  • Ocular pain
  • Nausea

Showing 5 of 17 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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)

5

Designations · 2 with FDA orphan-indication approval

  • FDA ublituximabNeuromyelitis Optica · 2016-08-25 · Not FDA Approved for Orphan Indication
  • FDA cladribineNeuromyelitis Optica · 2015-03-19 · Not FDA Approved for Orphan Indication
  • FDA inebilizumab (Uplizna)Neuromyelitis Optica · 2016-02-10
  • FDA satralizumab-mwge (ENSPRYNG)Neuromyelitis Optica · 2014-06-30
  • FDA eculizumab (Soliris)Neuromyelitis Optica · 2013-06-24

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

50

Drugs / clinical candidates · MONDO_0019100

CTD chemicals (MyDisease.info)

2 associated chemicals · 10 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Methylprednisolone · therapeutic
  • Bupivacaine · marker/mechanism

Pathways: Jak-STAT signaling pathway; Vasopressin-regulated water reabsorption; Bile secretion; Signaling by ERBB4; Nuclear signaling by ERBB4; Signal Transduction; Transmembrane transport of small molecules; Vasopressin regulates renal water homeostasis via Aquaporins

MyDisease.info · MONDO:0019100

Literature

Is anyone studying this?

25,100

25,100 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.

25,100 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).

19,856 in the last 10 years · high confidence · 98.5th 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?

102

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

102 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.5th percentile).

high confidence · 98.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

56 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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · 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 (10)

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 Neuromyelitis optica spectrum disorder — 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.

("Neuromyelitis optica spectrum disorder" OR "Devic disease" OR "NMOSD") OR (MESH:"Neuromyelitis Optica") OR ("AQP4" OR "AQP4 syndrome" OR "AQP4-related" OR "C5orf47" OR "C5orf47 syndrome" OR "C5orf47-related" OR "FAM194C" OR "FAM194C syndrome" OR "FAM194C-related")

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"

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

Study-type breakdown: 102 interventional · 56 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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