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ORPHA:2770

Nasu-Hakola disease

low confidenceDisorder

Also known as: NHD · PLO-SL · PLOSL · Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Publications

954

Trials

0

Interventional, condition-specific

Researchers

882

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

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 (2)

polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy · polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    954 matched papers (593 in last 10 years) Source

  3. Phenotype characterisedPresent

    85 HPO annotations (e.g. Pathologic fracture; Personality changes; Basal ganglia calcification) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

85

Associated phenotypes · MONDO:0009092

  • Pathologic fracture
  • Personality changes
  • Basal ganglia calcification
  • Primitive reflex
  • Cerebral atrophy

Showing 5 of 85 — 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)

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?

954

954 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.

954 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).

593 in the last 10 years · low confidence

Phrase hits: 954 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

882

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Satoh JI10 papers · 2023

    Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, Tokyo, Japan.

    Papers in Europe PMC
  2. 02
    Kino Y9 papers · 2020

    Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, Tokyo, Japan.

    Papers in Europe PMC
  3. 03
    Saito Y8 papers · 2020

    Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Yanaizu M8 papers · 2020

    Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Ishida T7 papers · 2020

    Department of Pathology and Laboratory Medicine, Kohnodai Hospital, NCGM, Chiba, Japan.

    Papers in Europe PMC
  6. 06
    Korvatska O7 papers · 2026

    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA. Electronic address: ok5@uw.edu.

    Papers in Europe PMC
  7. 07
    Li Y7 papers · 2026

    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

    Papers in Europe PMC
  8. 08
    Guerreiro R6 papers · 2021

    Department of Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, USA.

    Papers in Europe PMC
  9. 09
    Raskind WH6 papers · 2024

    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.

    Papers in Europe PMC
  10. 10
    Hardy J5 papers · 2025

    Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 1PJ, UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Nasu-Hakola disease — 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.

"Nasu-Hakola disease" OR "PLO-SL" OR "PLOSL" OR "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" OR "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly"

Run this search on Europe PMC

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

"Nasu-Hakola disease" OR "PLO-SL" OR "PLOSL" OR "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" OR "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly"

Study-type breakdown: 0 interventional · 0 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: NHD

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 (954) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T21:07:52.747Z