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ORPHA:90321

Cockayne syndrome type 1

low confidenceSubtype of disorder

Also known as: Cockayne syndrome type I

Publications

5,067

Trials

0

Interventional, condition-specific

Researchers

1,318

Distinct authors in sample

Gene link

ERCC8

Definitive

Readiness

4/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Cockayne syndrome A · Cockayne syndrome caused by mutation in ERCC8 · Cockayne syndrome type a · Cockayne syndrome, type A · ERCC8 Cockayne syndrome

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — ERCC8

  2. LiteraturePresent

    5,067 matched papers (2,401 in last 10 years) Source

  3. Phenotype characterisedPresent

    141 HPO annotations (e.g. Basal ganglia calcification; Proteinuria; Cataract) 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 trialPartial

    None under the specific name; 5 for broader category Cockayne syndrome

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 (ERCC8).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

141

Associated phenotypes · MONDO:0019569

  • Basal ganglia calcification
  • Proteinuria
  • Cataract
  • Scoliosis
  • Increased blood urea nitrogen

Showing 5 of 141 — 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?

5,067

5,067 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.

5,067 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).

2,401 in the last 10 years · low confidence

Phrase hits: 4,628 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,318

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
    Laugel V5 papers · 2026

    Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.

    Papers in Europe PMC
  2. 02
    Liu L5 papers · 2026

    Department of Medical Genetic and Prenatal Diagnosis, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC
  3. 03
    Wang X5 papers · 2025

    Zhejiang Key Laboratory of Organ Development and Regeneration, College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou 311121, China.

    Papers in Europe PMC
  4. 04
    Calmels N4 papers · 2026

    Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.

    Papers in Europe PMC
  5. 05
    Huang Y4 papers · 2026

    Department of Central Laboratory, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, China.

    Papers in Europe PMC
  6. 06
    Obringer C4 papers · 2026

    Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.

    Papers in Europe PMC
  7. 07
    Orioli D4 papers · 2026

    Institute of Molecular Genetics-CNR, Pavia, Italy.

    Papers in Europe PMC
  8. 08
    D'Errico M3 papers · 2022

    Department of Environment and Health, Istituto Superiore di Sanità, 00161 Rome, Italy.

    Papers in Europe PMC
  9. 09
    De Benedetti A3 papers · 2025

    Department of Biochemistry and Molecular Biology, Louisiana State University Health Shreveport, Shreveport, LA, United States.

    Papers in Europe PMC
  10. 10
    Krutmann J3 papers · 2026

    IUF-Leibniz Research Institute for Environmental Medicine, Auf'm Hennekamp 50, D-40225 Duesseldorf, Germany.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 5 trials are registered for Cockayne syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

5 interventional trials matched Cockayne syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Cockayne syndrome

5

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

1 observational study matches 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.

None of the matched observational studies is currently listed as 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (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 type 1 — 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 type 1" OR "Cockayne syndrome type I" OR "Cockayne syndrome A" OR "Cockayne syndrome caused by mutation in ERCC8" OR "Cockayne syndrome type a" OR "Cockayne syndrome, type A" OR "ERCC8 Cockayne syndrome") OR ("ERCC8" OR "ERCC8 syndrome" OR "ERCC8-related")

Run this search on Europe PMC

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

"Cockayne syndrome type 1" OR "Cockayne syndrome type I" OR "Cockayne syndrome A" OR "Cockayne syndrome caused by mutation in ERCC8" OR "Cockayne syndrome type a" OR "Cockayne syndrome, type A" OR "ERCC8 Cockayne syndrome"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Cockayne syndrome"

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
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (5067) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:44:20.021Z