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ORPHA:240071

Classic progressive supranuclear palsy syndrome

medium confidenceSubtype of disorder

Also known as: Classic PSP syndrome · Richardson syndrome · Steele-Richardson-Olszewski disease

Publications

23,167

98th percentile

Trials

6

Interventional, condition-specific

Researchers

1,371

Distinct authors in sample

Gene link

MAPT

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A classical form of supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by slowing of vertical saccadic eye movements, falls due to postural instability, axial akinetic-rigid syndrome, and cognitive impairment. Difficulties in speech and swallowing may develop.

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 (6)

PSP · classic PSP syndrome · classic progressive supranuclear palsy syndrome · supranuclear palsy, progressive · supranuclear palsy, progressive, 1 · supranuclear palsy, progressive, type 1

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 identifiedPresent

    Strong — MAPT

  2. LiteraturePresent

    23,167 matched papers (15,950 in last 10 years) Source

  3. Phenotype characterisedPresent

    61 HPO annotations (e.g. Mutism; Neurofibrillary tangles; Senile plaques) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    6 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?

Yes — we know a specific gene responsible (MAPT).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

61

Associated phenotypes · MONDO:0010997

  • Mutism
  • Neurofibrillary tangles
  • Senile plaques
  • Photophobia
  • Parkinsonism

Showing 5 of 61 — 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)

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?

23,167

23,167 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.

23,167 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).

15,950 in the last 10 years · medium confidence · 98th percentile (publications denominator)

Phrase hits: 3,932 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,371

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
    Whitwell JL11 papers · 2026

    Department of Radiology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  2. 02
    Ali F10 papers · 2026

    Department of Neurology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  3. 03
    Josephs KA10 papers · 2026

    Department of Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address: josephs.keith@mayo.edu.

    Papers in Europe PMC
  4. 04
    Tartaglia MC9 papers · 2026

    From the Tanz Centre for Research in Neurodegenerative Diseases (C.A., I.M.-V., A.V., S.T., M.H., F.T., C. Sato, D.M., C.J.A., K.M., A.E.L., E.R., G.G.K., M.C.T.); Krembil Brain Institute (I.M.-V., A.M.-R., B.C., D.F.T.-W., A.E.L., S.H.F., G.G.K., M.C.T.); The Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic (I.M.-V., A.M.-R., B.C., A.E.L., S.H.F., G.G.K., M.C.T.); Rossy Progressive Supranuclear Palsy Centre (I.M.-V., A.M.-R., A.E.L., G.G.K., M.C.T.), University Health Network and the University of Toronto; and University Health Network Memory Clinic (D.M.-F., C. Salvo, D.F.T.-W.), Toronto, Ontario, Canada.

    Papers in Europe PMC
  5. 05
    Wang H8 papers · 2026

    Department of Neurology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  6. 06
    Kovacs GG7 papers · 2026

    From the Tanz Centre for Research in Neurodegenerative Diseases (C.A., I.M.-V., A.V., S.T., M.H., F.T., C. Sato, D.M., C.J.A., K.M., A.E.L., E.R., G.G.K., M.C.T.); Krembil Brain Institute (I.M.-V., A.M.-R., B.C., D.F.T.-W., A.E.L., S.H.F., G.G.K., M.C.T.); The Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic (I.M.-V., A.M.-R., B.C., A.E.L., S.H.F., G.G.K., M.C.T.); Rossy Progressive Supranuclear Palsy Centre (I.M.-V., A.M.-R., A.E.L., G.G.K., M.C.T.), University Health Network and the University of Toronto; and University Health Network Memory Clinic (D.M.-F., C. Salvo, D.F.T.-W.), Toronto, Ontario, Canada.

    Papers in Europe PMC
  7. 07
    Wang J7 papers · 2025

    Department of Nuclear Medicine and PET-CT Center, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  8. 08
    Dickson DW6 papers · 2026

    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

    Papers in Europe PMC
  9. 09
    Lang AE6 papers · 2026

    From the Tanz Centre for Research in Neurodegenerative Diseases (C.A., I.M.-V., A.V., S.T., M.H., F.T., C. Sato, D.M., C.J.A., K.M., A.E.L., E.R., G.G.K., M.C.T.); Krembil Brain Institute (I.M.-V., A.M.-R., B.C., D.F.T.-W., A.E.L., S.H.F., G.G.K., M.C.T.); The Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic (I.M.-V., A.M.-R., B.C., A.E.L., S.H.F., G.G.K., M.C.T.); Rossy Progressive Supranuclear Palsy Centre (I.M.-V., A.M.-R., A.E.L., G.G.K., M.C.T.), University Health Network and the University of Toronto; and University Health Network Memory Clinic (D.M.-F., C. Salvo, D.F.T.-W.), Toronto, Ontario, Canada.

    Papers in Europe PMC
  10. 10
    Pantelyat A6 papers · 2026

    Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 90 trials are registered for progressive supranuclear palsy, the broader category — shown separately because they may or may not enrol this specific subtype.

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

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

medium confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: progressive supranuclear palsy

90

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · 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 (9)

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 Classic progressive supranuclear palsy syndrome — 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.

("Classic progressive supranuclear palsy syndrome" OR "Classic PSP syndrome" OR "Richardson syndrome" OR "Steele-Richardson-Olszewski disease" OR "supranuclear palsy, progressive" OR "supranuclear palsy, progressive, 1" OR "supranuclear palsy, progressive, type 1") OR ("MAPT" OR "MAPT syndrome" OR "MAPT-related")

Run this search on Europe PMC

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

"Classic progressive supranuclear palsy syndrome" OR "Classic PSP syndrome" OR "Richardson syndrome" OR "Steele-Richardson-Olszewski disease" OR "supranuclear palsy, progressive" OR "supranuclear palsy, progressive, 1" OR "supranuclear palsy, progressive, type 1"

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: 6 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"progressive supranuclear palsy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PSP

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "Steele-Richardson-Olszewski disease" also appears on ORPHA:683

Ingested 2026-07-27T10:27:21.607Z