ORPHA:90321
Cockayne syndrome type 1
Also known as: Cockayne syndrome type I
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
4,628
Trials
0
Interventional, condition-specific
Researchers
1,318
Distinct authors in sample
Gene link
ERCC8
Definitive
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019569
- OMIM:216400
- UMLS:C0751039
- NCIT:C135725
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — ERCC8
- LiteraturePresent
4,628 matched papers (2,088 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
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=5449) is 41.
4,628 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
2,088 in the last 10 years · low confidence
Phrase hits: 4,628 · MeSH hits: 0
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.
- 01Laugel V5 papers · 2026
Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.
Papers in Europe PMC - 02Liu L5 papers · 2026
Department of Medical Genetic and Prenatal Diagnosis, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 03Wang 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 - 04Calmels N4 papers · 2026
Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.
Papers in Europe PMC - 05Huang Y4 papers · 2026
Department of Central Laboratory, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, China.
Papers in Europe PMC - 06Obringer C4 papers · 2026
Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.
Papers in Europe PMC - 07
- 08D'Errico M3 papers · 2022
Department of Environment and Health, Istituto Superiore di Sanità, 00161 Rome, Italy.
Papers in Europe PMC - 09De Benedetti A3 papers · 2025
Department of Biochemistry and Molecular Biology, Louisiana State University Health Shreveport, Shreveport, LA, United States.
Papers in Europe PMC - 10Krutmann 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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
- NCT06938542·ENROLLING BY INVITATION·Palliative Care Needs of Children With Rare Diseases and Their Families
Conditions: Trisomy 13 Syndrome · Arthrogryposis Congenita Multiplex With Intestinal Atresia · Asparagine Synthetase Deficiency · CHARGE Syndrome·Matched via name phrase
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.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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" OR "ERCC8"
Recall-expansion terms: ERCC8
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: suspect — strategies attempted: phrase, recall-expansion; 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 (4628) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T03:44:20.021Z