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ORPHA:191

Cockayne syndrome

low confidenceDisorder

Publications

4,628

Trials

5

Interventional, condition-specific

Researchers

997

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, neurological dysfunction, and intellectual deficit.

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.

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4,628 matched papers (2,088 in last 10 years) Source

  3. Phenotype characterisedPresent

    453 HPO annotations (e.g. Demyelinating peripheral neuropathy; Urinary retention; Astrocytosis) Source

  4. Animal modelPresent

    7 genotype models (Rattus norvegicus, Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. [5,10,15,20-tetrakis(4-carboxyphenyl)-21H,23H-porphine]manganese(III) chloride Source

  6. Interventional trialPresent

    5 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

453

Associated phenotypes · MONDO:0016006

  • Demyelinating peripheral neuropathy
  • Urinary retention
  • Astrocytosis
  • Cerebellar dentate nucleus calcification
  • Cutaneous photosensitivity

Showing 5 of 453 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA [5,10,15,20-tetrakis(4-carboxyphenyl)-21H,23H-porphine]manganese(III) chlorideTreatment of Cockayne syndrome · 12/01/2017 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

3 associated chemicals · 17 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 3-Hydroxybutyric Acid · therapeutic
  • Dietary Fats · therapeutic
  • NAD · therapeutic

Pathways: Nucleotide excision repair; Ubiquitin mediated proteolysis; Cul4-DDB1-CSA complex; Epigenetic regulation of gene expression; ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression; RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription; Positive epigenetic regulation of rRNA expression; B-WICH complex positively regulates rRNA expression

MyDisease.info · MONDO:0016006

Literature

Is anyone studying this?

4,628

4,628 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.

4,628 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).

2,088 in the last 10 years · low confidence

Phrase hits: 4,628 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

997

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
    Laugel V17 papers · 2024

    Laboratoire de Génétique Médicale, INSERM 1112, Faculté de Médecine, F-67085 Strasbourg, France.

    Papers in Europe PMC
  2. 02
    Bohr VA14 papers · 2025

    Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224; mscheibye@sund.ku.dk vbohr@nih.gov.

    Papers in Europe PMC
  3. 03
    Calmels N12 papers · 2022

    Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, F-67091 Strasbourg, France.

    Papers in Europe PMC
  4. 04
    Obringer C11 papers · 2022

    Laboratoire de Génétique Médicale - INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de médecine de Strasbourg, 11 rue Humann, Strasbourg, 67000, France.

    Papers in Europe PMC
  5. 05
    Croteau DL8 papers · 2025

    Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, MD, USA.

    Papers in Europe PMC
  6. 06
    Krutmann J7 papers · 2026

    IUF-Leibniz Research Institute for Environmental Medicine, 40225 Düsseldorf, Germany. jean.krutmann@iuf-duesseldorf.de.

    Papers in Europe PMC
  7. 07
    Okur MN7 papers · 2021

    Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA.

    Papers in Europe PMC
  8. 08
    Huang Y6 papers · 2024

    Department of Medical genetics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, 100191, China.

    Papers in Europe PMC
  9. 09
    Liu L6 papers · 2025

    School of Basic Medical Science, Guangzhou University of Chinese Medicine, Guangzhou 510006, China.

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

    IUF-Leibniz Research Institute for Environmental Medicine, Duesseldorf, Germany. Electronic address: andrea.rossi@iuf-duesseldorf.de.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

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

Data as of 11 September 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

low confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

6 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Cockayne 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.

("Cockayne syndrome")

Run this search on Europe PMC

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

"Cockayne 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: 5 interventional · 6 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (4628) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:50:48.934Z