ORPHA:231568
Autosomal dominant generalized dystrophic epidermolysis bullosa
Also known as: Generalized DDEB
Publications
22
32.9th percentile
Trials
3
Interventional, condition-specific
Researchers
186
Distinct authors in sample
Gene link
COL7A1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
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:0007549
- OMIM:131750
- UMLS:C0432322
Additional Mondo synonyms (6)
DDEB, Pasini and Cockayne-Touraine types · DDEB, generalised · DDEB, generalized · DDEB-gen · autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types · epidermolysis bullosa dystrophica, AD
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 identifiedPresent
Definitive — COL7A1
- LiteraturePresent
22 matched papers (15 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 trialPresent
3 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 (COL7A1).
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?
22
22 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.
22 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).
15 in the last 10 years · high confidence · 32.9th percentile (publications denominator)
Phrase hits: 22 · MeSH hits: 0
Who's working on it?
186
Distinct author names in 22 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.
- 01Fine JD2 papers · 2010
The National Epidermolysis Bullosa Registry, Nashville, TN, USA. jo-david.fine@vanderbilt.edu
Papers in Europe PMC - 02Pasmooij AMG2 papers · 2022
Groningen Center for Blistering Diseases, Department of Dermatology, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.
Papers in Europe PMC - 03Van den Akker PC2 papers · 2022
Groningen Center for Blistering Diseases, Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.
Papers in Europe PMC - 04Agarwal R1 paper · 2023
Consultant Pediatric Dermatologist, Department of Pediatric Dermatology, Cutis Academy of Cutaneous Sciences, Bengaluru, Karnataka, India.
Papers in Europe PMC - 05Ali FM1 paper · 2024
Department of Pediatrics, The Affiliated Hospital of Jiangsu University, Zhenjiang, Jiangsu, China.
Papers in Europe PMC - 06Anghel L1 paper · 2023
Clinical Medical Department, Faculty of Medicine and Pharmacy, "Dunărea de Jos" University, 800008 Galați, Romania.
Papers in Europe PMC - 07Aria M1 paper · 2017
Department of Economics and Statistics, Federico II University of Naples, Naples, Italy.
Papers in Europe PMC - 08Ascencio ML1 paper · 2022
Centre d'Investigation Clinique CIC-EC Inserm CIC1432, UFR des Sciences de Santé, Université de Bourgogne-Franche-Comté, Dijon, France.
Papers in Europe PMC - 09Bae KN1 paper · 2022
Department of Dermatology, School of Medicine, Pusan National University, Busan, Korea.
Papers in Europe PMC - 10Bartnik-Głaska M1 paper · 2023
Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
high confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06731933·RECRUITING·Impact of COL7A1 Gene Therapy on SCC Recurrence in RDEB Skin
Conditions: Squamous Cell Carcinoma·Matched via recall expansion
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.
"Autosomal dominant generalized dystrophic epidermolysis bullosa" OR "Generalized DDEB" OR "DDEB, Pasini and Cockayne-Touraine types" OR "DDEB, generalised" OR "DDEB, generalized" OR "DDEB-gen" OR "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" OR "epidermolysis bullosa dystrophica, AD"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant generalized dystrophic epidermolysis bullosa" OR "Generalized DDEB" OR "DDEB, Pasini and Cockayne-Touraine types" OR "DDEB, generalised" OR "DDEB, generalized" OR "DDEB-gen" OR "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" OR "epidermolysis bullosa dystrophica, AD" OR "COL7A1"
Recall-expansion terms: COL7A1
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 3 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T10:18:29.463Z