ORPHA:287
Classical Ehlers-Danlos syndrome
Also known as: Classical EDS · cEDS
Publications
51,319
99.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,165
Distinct authors in sample
Gene link
COL1A1, COL5A1, COL5A2
Definitive
Readiness
5/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007522
- UMLS:C4225429
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.”
5/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — COL1A1, COL5A1, COL5A2
- LiteraturePresent
51,319 matched papers (41,886 in last 10 years) Source
- Phenotype characterisedPresent
118 HPO annotations (e.g. Floppy infant; Poor wound healing; Recurrent lower respiratory tract infections) Source
- Animal modelPresent
7 genotype models (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 44 for broader category Ehlers-Danlos 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 (COL1A1, COL5A1, COL5A2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
118
Associated phenotypes · MONDO:0007522
- Floppy infant
- Poor wound healing
- Recurrent lower respiratory tract infections
- Fragile skin
- Joint dislocation
Showing 5 of 118 — open Monarch for the full list.
Animal models (Monarch / Alliance)
7
Model associations linked to this Mondo ID
- Col5a1em1Brle/Col5a1+ [background:] C57BL/6-Col5a1em1Brle·MGI:7314211·Mus musculus
- Col5a1tm1Rjw/Col5a1+ [background:] involves: 129S6/SvEvTac * C57BL/6·MGI:3687258·Mus musculus
- Col5a2tm1.2Dgr/Col5a2+ [background:] involves: 129S7/SvEvBrd * C57BL/6 * DBA/2·MGI:5817903·Mus musculus
- Col5a1tm1Rjw/Col5a1+ [background:] either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6)·MGI:3687246·Mus musculus
- Lumtm1Chak/Lumtm1Chak [background:] involves: 129S/Sv * CD-1·MGI:3047689·Mus musculus
- Fmodtm1Aol/Fmodtm1Aol Lumtm1Chak/Lumtm1Chak [background:] involves: 129S1/Sv * 129X1/SvJ * CD-1·MGI:3047839·Mus musculus
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?
51,319
51,319 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.
51,319 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).
41,886 in the last 10 years · medium confidence · 99.4th percentile (publications denominator)
Phrase hits: 470 · MeSH hits: 0
Who's working on it?
1,165
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.
- 01Colombi 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 - 02Ritelli M12 papers · 2025
Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy.
Papers in Europe PMC - 03Malfait F9 papers · 2023
Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
Papers in Europe PMC - 04Venturini 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 - 05Chiarelli N6 papers · 2025
Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy.
Papers in Europe PMC - 06Ghali N6 papers · 2025
National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London, HA1 3UJ, UK.
Papers in Europe PMC - 07Syx D6 papers · 2023
Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
Papers in Europe PMC - 08van 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 - 09Cinquina 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 - 10Angwin 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?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 44 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 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.
medium 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.
44 interventional trials matched Ehlers-Danlos syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Ehlers-Danlos syndrome
44
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
- NCT07697573·NOT YET RECRUITING·An Exercise and Lifestyle Programme for Adults With Vascular Ehlers-Danlos Syndrome: A Feasibility Study
Conditions: Vascular Ehlers Danlos Syndrome·Matched via name phrase
- NCT07688096·NOT YET RECRUITING·Regenerative Medicine for Joint Hypermobility and Instability
Conditions: Ehlers-Danlos Syndrome Hypermobility Type (hEDS) · Ehlers-Danlos Syndrome (EDS) · Joint Hypermobility · Joint Instability·Matched via name phrase
- NCT05212129·RECRUITING·Auricular Vagal Nerve Stimulation for Hypermobile Ehlers-Danlos Syndrome
Conditions: Functional Gastrointestinal Disorders · Hypermobile Ehlers-Danlos Syndrome · Postural Orthostatic Tachycardia Syndrome · Autonomic Nervous System Disease·Matched via name phrase
- NCT05432466·RECRUITING·Clinical Trial to Compare the Efficacy of Celiprolol to Placebo in Patients With Vascular Ehlers-Danlos Syndrome
Conditions: Vascular Ehlers-Danlos Syndrome·Matched via name phrase
- NCT07743229·NOT YET RECRUITING·COG+OT Telerehabilitation for Adults With Subjective Cognitive Complaints
Conditions: Subjective Cognitive Complaints · Ehlers-Danlos Syndrome · Cognitive Dysfunction·Matched via name phrase
- NCT05994664·RECRUITING·Heart Coherence Training on Vascular Ehlers-Danlos Syndrome Patients
Conditions: Vascular Ehlers-Danlos Syndrome·Matched via name phrase
- NCT07626957·NOT YET RECRUITING·Hamstring Strengthening in Hypermobile Conditions
Conditions: Hypermobile EDS (hEDS) · Hypermobile Ehlers-Danlos Syndrome · Hypermobile Spectrum Disorder · Hypermobility Type Ehlers-Danlos Syndrome·Matched via name phrase
- NCT07083713·ENROLLING BY INVITATION·Group Coaching Study for Life Goals
Conditions: Students · Spinal Cord Injury · Ehlers Danlos Syndrome · Care Givers·Matched via name phrase
- NCT02050113·RECRUITING·Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices
Conditions: Complex Aortic Aneurysms · Thoracoabdominal Aneurysms · Pararenal Aneurysms · Juxtarenal Aneurysms·Matched via name phrase
- NCT05757960·ENROLLING BY INVITATION·TMD-specific Physiotherapy in hEDS Patients Individuals With Hypermobile Ehlers-Danlos Syndrome
Conditions: Hypermobile Ehlers-Danlos Syndrome·Matched via name phrase
- NCT07464093·RECRUITING·STABLE Pilates for Hypermobility
Conditions: Ehlers-Danlos Syndrome (EDS) · Hypermobile EDS (hEDS) · Hypermobile Spectrum Disorder·Matched via name phrase
- NCT05279937·NOT YET RECRUITING·The Ultrasound-Guided Dextrose Prolotherapy in Ehlers-Danlos Syndrome Patients
Conditions: Ehlers-Danlos Syndrome · Low Back Pain · Sacroiliac Instability·Matched via name phrase
Observational and natural-history studies
2 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.
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 19 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · 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 (15)
- ctis·2025-524711-36-00·Authorised·A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of ALKS 2680 in Adults With Narcolepsy Type 1
skipped — LLM skipped (--skip-llm)
- ctis·2025-523293-17-00·Authorised·SUNCET: Low sodium oxybate Use for Nocturnal Cluster headache: safety, Efficacy and Tolerability of XYWAV - a Phase 2 Randomized, Double-Blind, Placebo-Controlled, bi-center Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-523503-30-00·Authorised·A Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of E2086 in Adults with Narcolepsy
skipped — LLM skipped (--skip-llm)
- ctis·2025-522587-33-00·Authorised·A Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Safety, Tolerability, and Efficacy of TAK-360 for the Treatment of Narcolepsy with Cataplexy (Narcolepsy Type 1)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517711-70-01·Authorised, ongoing·A Randomized, Double-Blinded, Placebo-Controlled, Dose-Finding, Adaptive Trial to Evaluate the Safety, Tolerability, and Efficacy of TAK-360 in Participants with Narcolepsy without Cataplexy (NT2)
skipped — LLM skipped (--skip-llm)
- ctis·2025-520981-23-00·Expired·A Phase 2, Randomized, Parallel-Group, Double-Blind, Dose-Range-Finding
Study to Evaluate the Safety and Efficacy of ALKS 2680 in Subjects With Idiopathic
Hypersomnia
skipped — LLM skipped (--skip-llm)
- ctis·2024-517712-29-00·Authorised, ongoing·A Dose-Finding, Adaptive, Randomized, Double-Blinded, Placebo-Controlled Trial to Evaluate the Safety, Tolerability, and Efficacy of TAK-360 in Participants with Idiopathic Hypersomnia (IH)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519822-18-00·Authorised, ongoing·An Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Durability of Treatment Effect of ALKS 2680 in Subjects With Narcolepsy Type 1 and Type 2 and Idiopathic Hypersomnia
skipped — LLM skipped (--skip-llm)
- ctis·2024-515452-20-00·Cancelled·A Phase 2, Parallel-Group, Dose-Range-Finding Study With Randomized Double-Blind Treatment and Open-Label Periods to Evaluate the Safety and Efficacy of ALKS 2680 in Subjects With Narcolepsy Type 2
skipped — LLM skipped (--skip-llm)
- ctis·2023-508307-21-00·Authorised, ongoing·A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Efficacy and Safety Study of Pitolisant Followed by an Open-Label Extension in Patients with Prader-Willi Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-515568-30-00·Cancelled·Double blind, multicentre, randomized, placebo-controlled trial to evaluate safety and efficacy of pitolisant in children from 6 to less than 18 years with narcolepsy with/without cataplexy, followed by a prolonged open-label period
skipped — LLM skipped (--skip-llm)
- ctis·2024-511998-30-00·Cancelled·A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of TAK-861 for the Treatment of Narcolepsy with Cataplexy (Narcolepsy Type 1)
skipped — LLM skipped (--skip-llm)
- ctis·2023-508462-15-00·Expired·A Long-term Extension Trial to Evaluate the Safety and Tolerability of TAK-861 in Participants With Selected Central Hypersomnia Conditions.
skipped — LLM skipped (--skip-llm)
- ctis·2023-504388-18-00·Cancelled·(21824) A phase 3, single group treatment, open-label study to evaluate the safety of BAY 94-9027 infusions for prophylaxis and treatment of bleeding in previously treated children aged 7 to <12 years with severe hemophilia A
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN45323485·No longer recruiting·Assessing the feasibility of a supervised exercise rehabilitation intervention with behavioural and motivational support, for people with postural orthostatic tachycardia syndrome
skipped — LLM skipped (--skip-llm)
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 Classical Ehlers-Danlos syndrome — check Associations / patient organisations on that page.
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.
("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 "COL1A1 syndrome" OR "COL1A1-related" OR "COL5A1" OR "COL5A1 syndrome" OR "COL5A1-related" OR "COL5A2" OR "COL5A2 syndrome" OR "COL5A2-related")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"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Ehlers-Danlos syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
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