ORPHA:79402
Intermediate generalized junctional epidermolysis bullosa
Also known as: Generalized atrophic benign epidermolysis bullosa · Generalized junctional epidermolysis bullosa, non-Herlitz type · Intermediate generalized JEB · Junctional epidermolysis bullosa generalisata mitis · Junctional epidermolysis bullosa, Disentis type
Publications
128
46.2th percentile
Trials
0
Interventional, condition-specific
Researchers
541
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail or nail absence, and enamel hypoplasia, with extracutaneous involvement.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019307
- UMLS:C0432326
Additional Mondo synonyms (8)
JEB, generalised intermediate · JEB, generalized intermediate · generalised atrophic benign epidermolysis bullosa · generalised junctional epidermolysis bullosa, non-Herlitz type · generalized atrophic benign epidermolysis bullosa · generalized junctional epidermolysis bullosa, non-Herlitz type · junctional epidermolysis bullosa generalisata mitis · junctional epidermolysis bullosa, Disentis 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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
128 matched papers (34 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; 10 for broader category junctional epidermolysis bullosa
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)
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?
128
128 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.
128 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).
34 in the last 10 years · high confidence · 46.2th percentile (publications denominator)
Phrase hits: 128 · MeSH hits: 0
Who's working on it?
541
Distinct author names in 128 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.
- 01Uitto J20 papers · 2011
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA. Jouni.Uitto@jefferson.edu
Papers in Europe PMC - 02Jonkman MF12 papers · 2018
University of Groningen, University Medical Center Groningen, Department of Dermatology, Groningen, the Netherlands.
Papers in Europe PMC - 03McGrath JA12 papers · 2011
Department of Dermatology, Jefferson Medical College, PA 19107, USA.
Papers in Europe PMC - 04Pulkkinen L12 papers · 2002
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107-5541, USA.
Papers in Europe PMC - 05Bruckner-Tuderman L10 papers · 2020
Department of Dermatology, University Clinic for Dermatology and Venereology, Faculty of Medicine, University of Freiburg, Hauptstraβe 7, 79104, Freiburg, Germany.
Papers in Europe PMC - 06Hintner H10 papers · 2001Papers in Europe PMC
- 07Yancey KB10 papers · 2009
Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226-4801, USA. kyancey@mcw.edu
Papers in Europe PMC - 08Darling TN7 papers · 2002
Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892-1908, USA. tnd@box-t.nih.gov
Papers in Europe PMC - 09Pas HH7 papers · 2016
Departments of Dermatology, Center for Blistering Diseases, Groningen, The Netherlands.
Papers in Europe PMC - 10Sonnenberg A7 papers · 2001Papers 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 10 trials are registered for junctional epidermolysis bullosa, 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.
high 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.
10 interventional trials matched junctional epidermolysis bullosa, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: junctional epidermolysis bullosa
10
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
- NCT06594393·RECRUITING·A Phase 2 Study of TCP-25 Gel in Patients With Epidermolysis Bullosa, STEP-study
Conditions: Epidermolysis Bullosa (EB) · Dystrophic Epidermolysis Bullosa · Junctional Epidermolysis Bullosa·Matched via name phrase
- NCT06917690·RECRUITING·A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
Conditions: Epidermolysis Bullosa · Junctional Epidermolysis Bullosa · Epidermolysis Bullosa, Dystrophic · Epidermolysis Bullosa, Junctional·Matched via name phrase
- NCT03526159·RECRUITING·Gentamicin for Junctional Epidermolysis Bullosa
Conditions: Junctional Epidermolysis Bullosa·Matched via name phrase
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.
"Intermediate generalized junctional epidermolysis bullosa" OR "Generalized atrophic benign epidermolysis bullosa" OR "Generalized junctional epidermolysis bullosa, non-Herlitz type" OR "Intermediate generalized JEB" OR "Junctional epidermolysis bullosa generalisata mitis" OR "Junctional epidermolysis bullosa, Disentis type" OR "JEB, generalised intermediate" OR "JEB, generalized intermediate" OR "generalised atrophic benign epidermolysis bullosa" OR "generalised junctional epidermolysis bullosa, non-Herlitz type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Intermediate generalized junctional epidermolysis bullosa" OR "Generalized atrophic benign epidermolysis bullosa" OR "Generalized junctional epidermolysis bullosa, non-Herlitz type" OR "Intermediate generalized JEB" OR "Junctional epidermolysis bullosa generalisata mitis" OR "Junctional epidermolysis bullosa, Disentis type" OR "JEB, generalised intermediate" OR "JEB, generalized intermediate" OR "generalised atrophic benign epidermolysis bullosa" OR "generalised junctional epidermolysis bullosa, non-Herlitz type"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"junctional epidermolysis bullosa"
Query 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
Ingested 2026-07-27T02:21:58.805Z