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ORPHA:902

Werner syndrome

low confidenceDisorder

Also known as: Adult progeria · WS

Publications

5,930

Trials

3

Interventional, condition-specific

Researchers

1,192

Distinct authors in sample

Gene link

WRN

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Werner's syndrome · adult premature aging syndrome · adult progeria

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — WRN

  2. LiteraturePresent

    5,930 matched papers (2,315 in last 10 years) Source

  3. Phenotype characterisedPresent

    89 HPO annotations (e.g. Convex nasal ridge; Slender build; Sparse scalp hair) Source

  4. Animal modelPresent

    5 genotype models (Danio rerio, 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 trialPresent

    3 matched on ClinicalTrials.gov (1 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 (WRN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

89

Associated phenotypes · MONDO:0010196

  • Convex nasal ridge
  • Slender build
  • Sparse scalp hair
  • Abnormal hair whorl
  • Lipoatrophy

Showing 5 of 89 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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

2

Drugs / clinical candidates · MONDO_0010196

CTD chemicals (MyDisease.info)

1 associated chemical · 26 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Resveratrol · therapeutic

Pathways: Cell Cycle; Generic Transcription Pathway; SUMOylation; SUMOylation of DNA damage response and repair proteins; SUMO E3 ligases SUMOylate target proteins; Transcriptional Regulation by TP53; Metabolism of proteins; Regulation of TP53 Activity

MyDisease.info · MONDO:0010196

Literature

Is anyone studying this?

5,930

5,930 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.

5,930 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).

2,315 in the last 10 years · low confidence

Phrase hits: 5,920 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,192

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
    Maezawa Y21 papers · 2026

    Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.

    Papers in Europe PMC
  2. 02
    Yokote K19 papers · 2026

    Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.

    Papers in Europe PMC
  3. 03
    Kato H16 papers · 2025

    Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.

    Papers in Europe PMC
  4. 04
    Koshizaka M15 papers · 2025

    Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.

    Papers in Europe PMC
  5. 05
    Kaneko H13 papers · 2025

    Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.

    Papers in Europe PMC
  6. 06
    Oshima J12 papers · 2025

    Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.

    Papers in Europe PMC
  7. 07
    Kubota Y7 papers · 2025

    Department of Plastic Surgery, Chiba University Graduate School of Medicine, Chiba, Japan.

    Papers in Europe PMC
  8. 08
    Maeda Y7 papers · 2025

    Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.

    Papers in Europe PMC
  9. 09
    Shoji M7 papers · 2025

    Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.

    Papers in Europe PMC
  10. 10
    Takemoto M7 papers · 2025

    Department of Diabetes, Metabolism and Endocrinology, International University of Health and Welfare, Chiba, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

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

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Werner 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.

("Werner syndrome" OR "Adult progeria" OR "Werner's syndrome" OR "adult premature aging syndrome") OR ("WRN syndrome" OR "WRN-related")

Run this search on Europe PMC

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

"Werner syndrome" OR "Adult progeria" OR "Werner's syndrome" OR "adult premature aging syndrome"

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: 3 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: WS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:50:53.862Z