ORPHA:79408
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Also known as: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis · Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type · Generalized RDEB, severe form · RDEB generalisata gravis · RDEB, Hallopeau-Siemens type · Severe generalized RDEB
Publications
87
51.2th percentile
Trials
3
Interventional, condition-specific
Researchers
651
Distinct authors in sample
Gene link
COL7A1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009179
- OMIM:226600
- UMLS:C0079474
Additional Mondo synonyms (6)
EBD inversa · RDEB-sev gen · autosomal recessive dystrophic epidermolysis bullosa generalisata gravis · autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type · epidermolysis bullosa dystrophica, AR · epidermolysis bullosa dystrophica, autosomal recessive, modifier of
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
87 matched papers (44 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?
87
87 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.
87 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).
44 in the last 10 years · high confidence · 51.2th percentile (publications denominator)
Phrase hits: 87 · MeSH hits: 0
Who's working on it?
651
Distinct author names in 87 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.
- 01Nyström A9 papers · 2026
Department of Dermatology, University Medical Center, Freiburg, Germany.
Papers in Europe PMC - 02Bruckner-Tuderman L7 papers · 2021
Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany. Electronic address: bruckner-tuderman@uniklinik-freiburg.de.
Papers in Europe PMC - 03Hovnanian A6 papers · 2025
The Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom. alain.hovnanian@well.ox.ac.uk
Papers in Europe PMC - 04Kiritsi D5 papers · 2022
Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany.
Papers in Europe PMC - 05Hausser I4 papers · 2019
EM-lab, Institute of Pathology, University Clinic Heidelberg, Heidelberg, Germany.
Papers in Europe PMC - 06Salas-Alanís JC4 papers · 2018
DEBRA Mexico, Azteca Guadalupe, Nuevo Leon, 67150 Mexico.
Papers in Europe PMC - 07South AP4 papers · 2022
Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Papers in Europe PMC - 08Tolar J4 papers · 2018
Division of Hematology-Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455, USA. tolar003@umn.edu
Papers in Europe PMC - 09Bodemer C3 papers · 2014Papers in Europe PMC
- 10Bonafont J3 papers · 2021
Department of Biomedical Engineering, Carlos III University (UC3M), Madrid, Spain; Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, Madrid, Spain.
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 recessive generalized dystrophic epidermolysis bullosa, severe form" OR "Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" OR "Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" OR "Generalized RDEB, severe form" OR "RDEB generalisata gravis" OR "RDEB, Hallopeau-Siemens type" OR "Severe generalized RDEB" OR "EBD inversa" OR "RDEB-sev gen" OR "epidermolysis bullosa dystrophica, AR" OR "epidermolysis bullosa dystrophica, autosomal recessive, modifier of"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form" OR "Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" OR "Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" OR "Generalized RDEB, severe form" OR "RDEB generalisata gravis" OR "RDEB, Hallopeau-Siemens type" OR "Severe generalized RDEB" OR "EBD inversa" OR "RDEB-sev gen" OR "epidermolysis bullosa dystrophica, AR" OR "epidermolysis bullosa dystrophica, autosomal recessive, modifier of" 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 2026-07-27T02:22:58.074Z