RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:217260

Progressive multifocal leukoencephalopathy

low confidenceDisorder

Also known as: PML · Progressive multifocal leukoencephalitis

Publications

10,894

Trials

16

Interventional, condition-specific

Researchers

1,416

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

progressive multifocal leukoencephalitis

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

    10,894 matched papers (5,423 in last 10 years) Source

  3. Phenotype characterisedPresent

    35 HPO annotations (e.g. Abnormality of the nervous system; Abnormal cerebrospinal fluid morphology; Functional motor deficit) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    1 FDA · 1 EMA designations (1 FDA orphan-indication approval) — e.g. glycosylated recombinant human interleukin-7 Source

  6. Interventional trialPresent

    16 matched on ClinicalTrials.gov (3 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)

35

Associated phenotypes · MONDO:0016318

  • Abnormality of the nervous system
  • Abnormal cerebrospinal fluid morphology
  • Functional motor deficit
  • CNS demyelination
  • Abnormal CD4+ T cell subset proportion

Showing 5 of 35 — 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)

2

Designations · 1 with FDA orphan-indication approval

  • FDA glycosylated recombinant human interleukin-7Progressive multifocal leukoencephalopathy · 2012-09-27 · Not FDA Approved for Orphan Indication
  • EMA recombinant human interleukin-7Treatment of progressive multifocal leukoencephalopathy · 04/07/2012 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

19

Drugs / clinical candidates · MONDO_0016318

CTD chemicals (MyDisease.info)

9 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Camptothecin · therapeutic
  • Cidofovir · therapeutic
  • coenzyme Q10 · therapeutic
  • Cocaine · marker/mechanism
  • Cyclophosphamide · marker/mechanism
  • Cyclosporine · marker/mechanism
  • Fluorouracil · marker/mechanism
  • Mycophenolic Acid · marker/mechanism
  • Ranitidine · marker/mechanism

MyDisease.info · MONDO:0016318

Literature

Is anyone studying this?

10,894

10,894 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.

10,894 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).

5,423 in the last 10 years · low confidence

Phrase hits: 10,894 · MeSH hits: 15

Open Europe PMC search

Who's working on it?

1,416

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
    Nakamichi K9 papers · 2026

    Department of Virology 1, National Institute of Infectious Diseases, Tokyo, JPN.

    Papers in Europe PMC
  2. 02
    Cortese I7 papers · 2026

    National Institutes of Health, Bethesda, MD.

    Papers in Europe PMC
  3. 03
    Martin-Blondel G6 papers · 2026

    Infectious Diseases Department, University Hospital Center of Toulouse, Toulouse, France.

    Papers in Europe PMC
  4. 04
    Takahashi K5 papers · 2026

    Department of Pathology, National Institute of Infectious Diseases, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Berger JR4 papers · 2026

    From the Departments of Neurology (R.S.E., F.J.J., D.J.X., J.R.B., S.P.), and Pathology and Laboratory Medicine (E.L.-L.P.), University of Pennsylvania, Philadelphia.

    Papers in Europe PMC
  6. 06
    Chen J4 papers · 2026

    Department of Pathology, Beijing Ditan Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  7. 07
    Cinque P4 papers · 2026

    Unit of Infectious Diseases, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.

    Papers in Europe PMC
  8. 08
    Grote-Levi L4 papers · 2026

    Department of Neurology, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  9. 09
    Möhn N4 papers · 2026

    Department of Neurology, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  10. 10
    Skripuletz T4 papers · 2026

    Department of Neurology, Hannover Medical School, Hannover, Germany.

    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; 3 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

10 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 18 · after dedupe 18 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 18 · 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 (18)

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 Progressive multifocal leukoencephalopathy — 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.

"Progressive multifocal leukoencephalopathy" OR "Progressive multifocal leukoencephalitis"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukoencephalopathy, Progressive Multifocal

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

"Progressive multifocal leukoencephalopathy" OR "Progressive multifocal leukoencephalitis" OR "Leukoencephalopathy, Progressive Multifocal"

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: 16 interventional · 10 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

Synonyms dropped by stoplist: PML

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
  • Publication count (10894) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T09:46:17.005Z