ORPHA:230845
Vascular-like classical Ehlers-Danlos syndrome
Also known as: COL1A1-cEDS · Classic EDS-like with a propensity for arterial rupture · Classical EDS due to COL1A1 p.(Arg312Cys) · Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys) · Vascular-like classical EDS
Is anyone studying this?
2
2 papers have ever been indexed 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=183) is 38.
2 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
2 in the last 10 years · low confidence
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
low confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
19
Distinct author names in 2 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.
- 01Allamand V1 paper · 2021
Sorbonne Université - Inserm UMRS974 Centre de Recherche en Myologie GH Pitié-Salpêtrière Paris France.
Papers in Europe PMC - 02
- 03Benistan K1 paper · 2021
Centre de Référence des Syndromes d'Ehlers-Danlos Non Vasculaires Hôpital Raymond Poincaré Garches France.
Papers in Europe PMC - 04Campbell J1 paper · 2025
School of Medicine Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK.
Papers in Europe PMC - 05Carlier R1 paper · 2021
INSERM U1179 Université Versailles Saint-Quentin-en-Yvelines Montigny-le-Bretonneux France.
Papers in Europe PMC - 06De Mazancourt P1 paper · 2021
INSERM U1179 Université Versailles Saint-Quentin-en-Yvelines Montigny-le-Bretonneux France.
Papers in Europe PMC - 07Dean J1 paper · 2025
School of Medicine Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK.
Papers in Europe PMC - 08Foy M1 paper · 2021
Centre de Référence des Syndromes d'Ehlers-Danlos Non Vasculaires Hôpital Raymond Poincaré Garches France.
Papers in Europe PMC - 09Gartioux C1 paper · 2021
Sorbonne Université - Inserm UMRS974 Centre de Recherche en Myologie GH Pitié-Salpêtrière Paris France.
Papers in Europe PMC - 10Gillas F1 paper · 2021
Centre de Référence des Syndromes d'Ehlers-Danlos Non Vasculaires Hôpital Raymond Poincaré Garches France.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
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 below but are not added to the query string.
"Vascular-like classical Ehlers-Danlos syndrome" OR "COL1A1-cEDS" OR "Classic EDS-like with a propensity for arterial rupture" OR "Classical EDS due to COL1A1 p.(Arg312Cys)" OR "Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)" OR "Vascular-like classical EDS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Vascular-like classical Ehlers-Danlos syndrome" OR "COL1A1-cEDS" OR "Classic EDS-like with a propensity for arterial rupture" OR "Classical EDS due to COL1A1 p.(Arg312Cys)" OR "Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)" OR "Vascular-like classical EDS"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
0Query 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
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low