ORPHA:89843
Dystrophic epidermolysis bullosa pruriginosa
Also known as: DEB pruriginosa · DEB-Pr · Pruriginous dystrophic epidermolysis bullosa
Publications
147
63.1th percentile
Trials
3
Interventional, condition-specific
Researchers
716
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 or localized skin lesions associated with severe, if not intractable, pruritus.
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:0011398
- MeSH:C563192
- OMIM:604129
- UMLS:C1275114
Additional Mondo synonyms (3)
DEB, pruriginosa · dystrophic epidermolysis bullosa pruriginosa · pruriginous dystrophic epidermolysis bullosa
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
147 matched papers (82 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?
147
147 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.
147 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).
82 in the last 10 years · high confidence · 63.1th percentile (publications denominator)
Phrase hits: 144 · MeSH hits: 4
Who's working on it?
716
Distinct author names in 147 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.
- 01McGrath JA18 papers · 2026
Department of Cell Pathology, St John's Institute of Dermatology, St Thomas' Hospital, London, U.K.
Papers in Europe PMC - 02Mellerio JE10 papers · 2026
Department of Cell and Molecular Pathology, St John's Institute of Dermatology (The Guy's, King's College and St Thomas' Hospitals' Medical School), London, UK.
Papers in Europe PMC - 03Nakano H9 papers · 2019
Department of Dermatology, Hirosaki University School of Medicine, Hirosaki, Japan.
Papers in Europe PMC - 04Sawamura D7 papers · 2016
Department of Dermatology, Hirosaki University School of Medicine, Hirosaki, Japan.
Papers in Europe PMC - 05Wang Y6 papers · 2026
Department of Population Health Sciences, King's College London, London, UK.
Papers in Europe PMC - 06Zambruno G6 papers · 2025
Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 07Bisquera A4 papers · 2026
Department of Population Health Sciences, King's College London, London, UK.
Papers in Europe PMC - 08Castiglia D4 papers · 2012Papers in Europe PMC
- 09Jeffs E4 papers · 2026
St. John's Institute of Dermatology , Guy's and St Thomas' NHS Foundation Trust, London, UK. eunice.jeffs@nhs.net.
Papers in Europe PMC - 10Ledwaba-Chapman L4 papers · 2026
Department of Population Health Sciences, King's College London, London, UK.
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.
"Dystrophic epidermolysis bullosa pruriginosa" OR "DEB pruriginosa" OR "DEB-Pr" OR "Pruriginous dystrophic epidermolysis bullosa" OR "DEB, pruriginosa"
MeSH descriptor terms unioned into the query: Epidermolysis Bullosa Pruriginosa
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Dystrophic epidermolysis bullosa pruriginosa" OR "DEB pruriginosa" OR "DEB-Pr" OR "Pruriginous dystrophic epidermolysis bullosa" OR "DEB, pruriginosa" OR "Epidermolysis Bullosa Pruriginosa" 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, mesh, recall-expansion; with hits: phrase, mesh, 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 2026-07-27T03:27:36.921Z