ORPHA:285
Hypermobile Ehlers-Danlos syndrome
Also known as: EDS III · EDS-HT · Ehlers-Danlos syndrome hypermobility type · Ehlers-Danlos syndrome type 3 · Hypermobile EDS · hEDS
Publications
1,428
87.9th percentile
Trials
19
Interventional, condition-specific
Researchers
878
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007523
- MeSH:C536196
- OMIM:130020
- UMLS:C0268337
- NCIT:C125698
Additional Mondo synonyms (7)
EDSHMB · Ehlers-Danlos syndrome type 3 (formerly) · Ehlers-Danlos syndrome, hypermobile type · Ehlers-Danlos syndrome, hypermobility type · Ehlers-Danlos syndrome, type 3 · Ehlers-Danlos syndrome, type III · HT-EDS
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,428 matched papers (1,151 in last 10 years) Source
- Phenotype characterisedPresent
82 HPO annotations (e.g. Hypotonia; Joint dislocation; Striae distensae) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
19 matched on ClinicalTrials.gov (5 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
82
Associated phenotypes · MONDO:0007523
- Hypotonia
- Joint dislocation
- Striae distensae
- Scarring
- Mitral valve prolapse
Showing 5 of 82 — 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.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,428
1,428 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=3967) is 59.
1,428 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).
1,151 in the last 10 years · medium confidence · 87.9th percentile (publications denominator)
Phrase hits: 1,428 · MeSH hits: 0
Who's working on it?
878
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.
- 01Fairweather D9 papers · 2026
Department of Cardiovascular Medicine, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. Fairweather.DeLisa@mayo.edu.
Papers in Europe PMC - 02Bruno KA8 papers · 2026
Department of Cardiovascular Medicine, Mayo Clinic, Jacksonville, Florida, USA.
Papers in Europe PMC - 03Knight DRT6 papers · 2026
Department of General Internal Medicine, Mayo Clinic, Jacksonville, Florida, USA.
Papers in Europe PMC - 04Aziz Q5 papers · 2026
Blizard Institute, Wingate Institute of Neurogastroenterology, Centre for Neuroscience, Surgery and Trauma, Barts and the London School of Medicine and Dentistry, Queen Mary University, London, United Kingdom.
Papers in Europe PMC - 05Daylor V5 papers · 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC, United States.
Papers in Europe PMC - 06Foster J5 papers · 2026
School of Education and Science, University of Gloucestershire, Cheltenham, UK.
Papers in Europe PMC - 07Gensemer C5 papers · 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC, United States.
Papers in Europe PMC - 08Manocha RHK5 papers · 2026
Faculty of Kinesiology, University of Calgary, Calgary, AB, Canada.
Papers in Europe PMC - 09Norris RA5 papers · 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC, United States.
Papers in Europe PMC - 10Patel S5 papers · 2025
Department of Neurosurgery, Medical University of South Carolina, Charleston, SC, United States.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
19
interventional trials for this specific condition
19 interventional trials matched this specific condition name; 5 currently recruiting in our sample. 25 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
19 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.6th percentile).
medium confidence · 94.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
19 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05212129·RECRUITING·Auricular Vagal Nerve Stimulation for Hypermobile Ehlers-Danlos Syndrome
Not reviewed·Conditions: Functional Gastrointestinal Disorders · Hypermobile Ehlers-Danlos Syndrome · Postural Orthostatic Tachycardia Syndrome · Autonomic Nervous System Disease·Matched via name phrase
- NCT05757960·ENROLLING BY INVITATION·TMD-specific Physiotherapy in hEDS Patients Individuals With Hypermobile Ehlers-Danlos Syndrome
Not reviewed·Conditions: Hypermobile Ehlers-Danlos Syndrome·Matched via name phrase
- NCT07464093·RECRUITING·STABLE Pilates for Hypermobility
Not reviewed·Conditions: Ehlers-Danlos Syndrome (EDS) · Hypermobile EDS (hEDS) · Hypermobile Spectrum Disorder·Matched via name phrase
- NCT07626957·NOT YET RECRUITING·Hamstring Strengthening in Hypermobile Conditions
Not reviewed·Conditions: Hypermobile EDS (hEDS) · Hypermobile Ehlers-Danlos Syndrome · Hypermobile Spectrum Disorder · Hypermobility Type Ehlers-Danlos Syndrome·Matched via name phrase
- NCT07688096·NOT YET RECRUITING·Regenerative Medicine for Joint Hypermobility and Instability
Not reviewed·Conditions: Ehlers-Danlos Syndrome Hypermobility Type (hEDS) · Ehlers-Danlos Syndrome (EDS) · Joint Hypermobility · Joint Instability·Matched via name phrase
Broader category: Ehlers-Danlos syndrome
25
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
- NCT07083713·ENROLLING BY INVITATION·Group Coaching Study for Life Goals
Not reviewed·Conditions: Students · Spinal Cord Injury · Ehlers Danlos Syndrome · Care Givers·Matched via name phrase
- NCT05432466·RECRUITING·Clinical Trial to Compare the Efficacy of Celiprolol to Placebo in Patients With Vascular Ehlers-Danlos Syndrome
Not reviewed·Conditions: Vascular Ehlers-Danlos Syndrome·Matched via name phrase
- NCT05279937·NOT YET RECRUITING·The Ultrasound-Guided Dextrose Prolotherapy in Ehlers-Danlos Syndrome Patients
Not reviewed·Conditions: Ehlers-Danlos Syndrome · Low Back Pain · Sacroiliac Instability·Matched via name phrase
- NCT07697573·NOT YET RECRUITING·An Exercise and Lifestyle Programme for Adults With Vascular Ehlers-Danlos Syndrome: A Feasibility Study
Not reviewed·Conditions: Vascular Ehlers Danlos Syndrome·Matched via name phrase
- NCT05994664·RECRUITING·Heart Coherence Training on Vascular Ehlers-Danlos Syndrome Patients
Not reviewed·Conditions: Vascular Ehlers-Danlos Syndrome·Matched via name phrase
- NCT02050113·RECRUITING·Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices
Not reviewed·Conditions: Complex Aortic Aneurysms · Thoracoabdominal Aneurysms · Pararenal Aneurysms · Juxtarenal Aneurysms·Matched via name phrase
Observational and natural-history studies
9 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.
Recruiting or not-yet-recruiting
- NCT07637084·RECRUITING·Photobiomodulation for Chronic Pain and Fatigue in Hypermobile Ehlers-Danlos Syndrome (PBM-SEDh-01)
Not reviewed·Conditions: Ehlers-Danlos Syndrome, Hypermobile · Chronic Pain · Fatigue Syndrome, Chronic·Matched via name phrase
- NCT07657507·NOT YET RECRUITING·Presentation of Young Adults With and Without Joint Hypermobility
Not reviewed·Conditions: Hypermobile Ehlers-Danlos Syndrome · Postural Orthostatic Tachycardia Syndrome (POTS)·Matched via name phrase
- NCT04310644·RECRUITING·Autonomic Small Fiber Neuropathy and Ehlers Danlos Syndromes - Prospective Study and Registry
Not reviewed·Conditions: Autonomic Neuropathy · Ehlers-Danlos Syndrome Hypermobility Type · Small Fiber Neuropathy · Postural Tachycardia Syndrome·Matched via name phrase
- NCT07565636·RECRUITING·3D Printed Orthosis for Wrist Instability for Ehlers-Danlos Syndrome Patient
Not reviewed·Conditions: Ehlers-Danlos Syndrome Hypermobility Type (hEDS)·Matched via name phrase
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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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 (7)
- 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)
- isrctn·ISRCTN17018615·No longer recruiting·A novel targeted treatment for reducing anxiety in joint hypermobility
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN93069608·No longer recruiting·Emotion intervention for binge-eating
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN10907780·Stopped·Empirical oral AntibioticS for possible urinary tract infection (UTI) in well-appearing Young febrile infants (EASY)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN54006056·No longer recruiting·A point of care test to aid in diagnosis of suspected sepsis and optimal use of antibiotics in adults presenting to A & E
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN74033088·No longer recruiting·Randomised controlled trial of physical therapy in ankle sprains
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN84286481·No longer recruiting·Carpal Tunnel Syndrome Diagnosis and Treatment Trial
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 Hypermobile 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.
"Hypermobile Ehlers-Danlos syndrome" OR "EDS III" OR "EDS-HT" OR "Ehlers-Danlos syndrome hypermobility type" OR "Ehlers-Danlos syndrome type 3" OR "Hypermobile EDS" OR "EDSHMB" OR "Ehlers-Danlos syndrome type 3 (formerly)" OR "Ehlers-Danlos syndrome, hypermobile type" OR "Ehlers-Danlos syndrome, hypermobility type" OR "Ehlers-Danlos syndrome, type 3" OR "Ehlers-Danlos syndrome, type III" OR "HT-EDS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypermobile Ehlers-Danlos syndrome" OR "EDS III" OR "EDS-HT" OR "Ehlers-Danlos syndrome hypermobility type" OR "Ehlers-Danlos syndrome type 3" OR "Hypermobile EDS" OR "EDSHMB" OR "Ehlers-Danlos syndrome type 3 (formerly)" OR "Ehlers-Danlos syndrome, hypermobile type" OR "Ehlers-Danlos syndrome, hypermobility type" OR "Ehlers-Danlos syndrome, type 3" OR "Ehlers-Danlos syndrome, type III" OR "HT-EDS"
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: 19 interventional · 9 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: hEDS
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 2026-07-26T13:13:13.926Z