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ORPHA:287

Classical Ehlers-Danlos syndrome

medium confidenceDisorder

Also known as: Classical EDS · cEDS

Publications

470

87.3th percentile

Trials

1

Interventional, condition-specific

Researchers

1,165

Distinct authors in sample

Gene link

COL1A1, COL5A1, COL5A2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.

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)

EDS, classic type · Ehlers-Danlos syndrome classic type · Ehlers-Danlos syndrome, classic type

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

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

  1. Gene identifiedPresent

    Definitive — COL1A1, COL5A1, COL5A2

  2. LiteraturePresent

    470 matched papers (370 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 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 (COL1A1, COL5A1, COL5A2).

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?

470

470 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

470 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).

370 in the last 10 years · medium confidence · 87.3th percentile (publications denominator)

Phrase hits: 470 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,165

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
    Colombi M12 papers · 2025

    Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy. marina.colombi@unibs.it.

    Papers in Europe PMC
  2. 02
    Ritelli M12 papers · 2025

    Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy.

    Papers in Europe PMC
  3. 03
    Malfait F9 papers · 2023

    Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.

    Papers in Europe PMC
  4. 04
    Venturini M7 papers · 2025

    Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, 25123 Brescia, Italy. marina.venturini@unibs.it.

    Papers in Europe PMC
  5. 05
    Chiarelli N6 papers · 2025

    Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy.

    Papers in Europe PMC
  6. 06
    Ghali N6 papers · 2025

    National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London, HA1 3UJ, UK.

    Papers in Europe PMC
  7. 07
    Syx D6 papers · 2023

    Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.

    Papers in Europe PMC
  8. 08
    van Dijk FS6 papers · 2025

    National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London, HA1 3UJ, UK.

    Papers in Europe PMC
  9. 09
    Cinquina V5 papers · 2025

    Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. v.cinquina@studenti.unibs.it.

    Papers in Europe PMC
  10. 10
    Angwin C4 papers · 2024

    London North West University Health Care NHS Trust National EDS service Watford Road HA1 3UJ Harrow United Kingdom.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 43 trials are registered for Ehlers-Danlos syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: Ehlers-Danlos syndrome

43

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

3 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Classical Ehlers-Danlos syndrome" OR "Classical EDS" OR "EDS, classic type" OR "Ehlers-Danlos syndrome classic type" OR "Ehlers-Danlos syndrome, classic type"

Run this search on Europe PMC

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

"Classical Ehlers-Danlos syndrome" OR "Classical EDS" OR "EDS, classic type" OR "Ehlers-Danlos syndrome classic type" OR "Ehlers-Danlos syndrome, classic type" OR "COL1A1" OR "COL5A1" OR "COL5A2"

Recall-expansion terms: COL1A1, COL5A1, COL5A2

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: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Ehlers-Danlos syndrome"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: cEDS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:16:12.245Z