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ORPHA:641

Multifocal motor neuropathy

medium confidenceDisorder

Also known as: MMN · MMNCB · Multifocal motor neuropathy with conduction block

Publications

2,239

87.8th percentile

Trials

13

Interventional, condition-specific

Researchers

1,062

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Multifocal motor (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.

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)

multifocal motor neuropathy with conduction block

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.”

4/6 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

    2,239 matched papers (1,119 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Functional motor deficit; Weakness of long finger extensor muscles; Diminished deep tendon reflex) Source

  4. Animal modelNot found

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

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. empasiprubart Source

  6. Interventional trialPresent

    13 matched on ClinicalTrials.gov (2 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)

12

Associated phenotypes · MONDO:0018979

  • Functional motor deficit
  • Weakness of long finger extensor muscles
  • Diminished deep tendon reflex
  • Increased CSF protein concentration
  • Progressive muscle weakness

Showing 5 of 12 — 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)

1

Designation · no FDA orphan-indication approval yet

  • EMA empasiprubartTreatment of multifocal motor neuropathy · 20/06/2025 · PositiveEMA 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?

2,239

2,239 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.

2,239 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).

1,119 in the last 10 years · medium confidence · 87.8th percentile (publications denominator)

Phrase hits: 2,239 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,062

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
    Rajabally YA8 papers · 2026

    Inflammatory Neuropathy Clinic, Department of Neurology, University Hospitals Birmingham, Birmingham, UK.

    Papers in Europe PMC
  2. 02
    van der Pol WL8 papers · 2026

    From the Department of Neurology (A.E.B., K.K., L.C.K., L.W.G.L., W.M.K., B.C.J., P.A.D.), Erasmus MC University Medical Center, Rotterdam; Department of Neurology (K.K.), Albert Schweitzer Hospital, Dordrecht; Department of Neurology (L.W.G.L.), St. Elisabeth-TweeSteden Hospital, Tilburg; Department of Neurology (F.E., L.W.), Amsterdam University Medical Center, University of Amsterdam; Department of Neurology and Neurosurgery (H.S.G., W.L.P.), Brain Center University Medical Center Utrecht; Dutch Patient Organization for Neuromuscular Diseases (P.H.B.-M., A.M.C.H.), Baarn; and Department of Immunology (B.C.J.), Erasmus MC University Medical Center, Rotterdam, the Netherlands.

    Papers in Europe PMC
  3. 03
    Goedee HS7 papers · 2025

    From the Department of Neurology (A.E.B., K.K., L.C.K., L.W.G.L., W.M.K., B.C.J., P.A.D.), Erasmus MC University Medical Center, Rotterdam; Department of Neurology (K.K.), Albert Schweitzer Hospital, Dordrecht; Department of Neurology (L.W.G.L.), St. Elisabeth-TweeSteden Hospital, Tilburg; Department of Neurology (F.E., L.W.), Amsterdam University Medical Center, University of Amsterdam; Department of Neurology and Neurosurgery (H.S.G., W.L.P.), Brain Center University Medical Center Utrecht; Dutch Patient Organization for Neuromuscular Diseases (P.H.B.-M., A.M.C.H.), Baarn; and Department of Immunology (B.C.J.), Erasmus MC University Medical Center, Rotterdam, the Netherlands.

    Papers in Europe PMC
  4. 04
    Jacobs BC6 papers · 2026

    From the Department of Neurology (A.E.B., K.K., L.C.K., L.W.G.L., W.M.K., B.C.J., P.A.D.), Erasmus MC University Medical Center, Rotterdam; Department of Neurology (K.K.), Albert Schweitzer Hospital, Dordrecht; Department of Neurology (L.W.G.L.), St. Elisabeth-TweeSteden Hospital, Tilburg; Department of Neurology (F.E., L.W.), Amsterdam University Medical Center, University of Amsterdam; Department of Neurology and Neurosurgery (H.S.G., W.L.P.), Brain Center University Medical Center Utrecht; Dutch Patient Organization for Neuromuscular Diseases (P.H.B.-M., A.M.C.H.), Baarn; and Department of Immunology (B.C.J.), Erasmus MC University Medical Center, Rotterdam, the Netherlands.

    Papers in Europe PMC
  5. 05
    Kuwabara S6 papers · 2026

    Department of Neurology, Graduate School of Medicine, Chiba University.

    Papers in Europe PMC
  6. 06
    Bril V5 papers · 2026

    Division of Neurology, University of Toronto, ON, M5S 3H2, Canada.

    Papers in Europe PMC
  7. 07
    Budding K5 papers · 2026

    Center for Translational Immunology, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address: K.Budding@umcutrecht.nl.

    Papers in Europe PMC
  8. 08
    Osman C5 papers · 2026

    Wessex Neurological Centre, University Hospital Southampton, Southampton, UK.

    Papers in Europe PMC
  9. 09
    van den Berg LH5 papers · 2025

    Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands. Electronic address: lberg@umcutrecht.nl.

    Papers in Europe PMC
  10. 10
    Al-Areed A4 papers · 2026

    Wessex Neurological Centre, University Hospital Southampton, Southampton, UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

13

interventional trials for this specific condition

13 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

13 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.5th percentile).

medium confidence · 93.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · 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).

Uncertain / not reviewed (12)

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 Multifocal motor neuropathy — 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.

"Multifocal motor neuropathy" OR "MMNCB" OR "Multifocal motor neuropathy with conduction block"

Run this search on Europe PMC

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

"Multifocal motor neuropathy" OR "MMNCB" OR "Multifocal motor neuropathy with conduction block"

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: 13 interventional · 5 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: MMN

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 2026-07-26T14:42:03.330Z