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ORPHA:683

Progressive supranuclear palsy

medium confidenceDisorder

Also known as: PSP syndrome

Publications

18,031

97.2th percentile

Trials

95

Interventional, condition-specific

Researchers

1,442

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction.

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 (3)

Steele-Richardson-Olszewski disease · Steele-Richardson-Olszewski syndrome · progressive supranuclear ophthalmoplegia

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

    18,031 matched papers (11,163 in last 10 years) Source

  3. Phenotype characterisedPresent

    249 HPO annotations (e.g. Falls; Blepharospasm; Vertigo) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    5 FDA · 11 EMA designations (5 FDA orphan-indication approvals) — e.g. Fasudil Source

  6. Interventional trialPresent

    95 matched on ClinicalTrials.gov (17 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)

249

Associated phenotypes · MONDO:0019037

  • Falls
  • Blepharospasm
  • Vertigo
  • Aphasia
  • Dysphagia

Showing 5 of 249 — 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)

16

Designations · 5 with FDA orphan-indication approval

  • FDA FasudilProgressive supranuclear palsy · 2020-12-21 · Not FDA Approved for Orphan Indication
  • FDA tolfenamic acidProgressive supranuclear palsy · 2016-07-13 · Not FDA Approved for Orphan Indication
  • FDA Anti-eTau Humanized IgG4 Monoclonal AntibodyProgressive supranuclear palsy · 2015-05-13 · Not FDA Approved for Orphan Indication
  • FDA 5-(3-ethyl-1,2,4-oxadiazol-5-yl)-1,4,5,6-tetrahydropyrimidine hydrochlorideProgressive supranuclear palsy · 2011-04-18 · Not FDA Approved for Orphan Indication
  • FDA davunetideProgressive supranuclear palsy · 2009-12-07 · Not FDA Approved for Orphan Indication
  • EMA Humanised IgG4 monoclonal antibody against extracellular tauTreatment of progressive supranuclear palsy · 28/07/2015 · PositiveEMA designation
  • EMA MethylthioniniumTreatment of progressive supranuclear palsy · 26/11/2010 · PositiveEMA designation
  • EMA tertomotideTreatment of progressive supranuclear palsy · 22/05/2025 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

22

Drugs / clinical candidates · MONDO_0019037

CTD chemicals (MyDisease.info)

4 associated chemicals · 37 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Levodopa · therapeutic
  • tideglusib · therapeutic
  • Amiodarone · marker/mechanism
  • Flunarizine · marker/mechanism

Pathways: Spliceosome; MAPK signaling pathway; SNARE interactions in vesicular transport; Mitophagy - animal; Autophagy - animal; Protein processing in endoplasmic reticulum; Apoptosis; Non-alcoholic fatty liver disease (NAFLD)

MyDisease.info · MONDO:0019037

Literature

Is anyone studying this?

18,031

18,031 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.

18,031 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).

11,163 in the last 10 years · medium confidence · 97.2th percentile (publications denominator)

Phrase hits: 18,031 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,442

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
    Dickson DW8 papers · 2026

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

    Papers in Europe PMC
  2. 02
    Höglinger GU8 papers · 2026

    Department of Neurology, University Hospital, LMU Munich, Munich, Germany.

    Papers in Europe PMC
  3. 03
    Quattrone A7 papers · 2026

    Department of Neurology, University Hospital, LMU Munich, Munich, Germany.

    Papers in Europe PMC
  4. 04
    Rowe JB7 papers · 2026

    Department of Clinical Neurosciences, and Cambridge University Hospitals NHS Trust, University of Cambridge, United Kingdom.

    Papers in Europe PMC
  5. 05
    Wang H7 papers · 2026

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

    Papers in Europe PMC
  6. 06
    Josephs KA6 papers · 2026

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

    Papers in Europe PMC
  7. 07
    Kovacs GG6 papers · 2026

    Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC
  8. 08
    Lang AE6 papers · 2026

    Edmond J. Safra Program in Parkinson's Disease, The Rossy Progressive Supranuclear Palsy Centre, and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Ontario, Canada; Krembil Research Institute, Toronto Western Hospital, Ontario, Canada. Electronic address: anthony.lang@uhn.ca.

    Papers in Europe PMC
  9. 09
    Quaegebeur A6 papers · 2026

    Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

    Papers in Europe PMC
  10. 10
    Tartaglia MC6 papers · 2026

    Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

95

interventional trials for this specific condition

95 interventional trials matched this specific condition name; 17 currently recruiting in our sample.

Data as of 11 September 2026

95 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.4th percentile).

medium confidence · 98.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

58 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 39 · after dedupe 39 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 39 · 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 (39)

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 supranuclear palsy — 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 supranuclear palsy" OR "PSP syndrome" OR "Steele-Richardson-Olszewski disease" OR "Steele-Richardson-Olszewski syndrome" OR "progressive supranuclear ophthalmoplegia"

Run this search on Europe PMC

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

"Progressive supranuclear palsy" OR "PSP syndrome" OR "Steele-Richardson-Olszewski disease" OR "Steele-Richardson-Olszewski syndrome" OR "progressive supranuclear ophthalmoplegia"

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: 95 interventional · 58 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • "Steele-Richardson-Olszewski disease" also appears on ORPHA:240071

Ingested 2026-07-26T14:56:00.882Z