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
3,603
91.1th percentile
Trials
0
Interventional, condition-specific
Researchers
651
Distinct authors in sample
Gene link
COL7A1
Definitive
Readiness
5/6
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.”
5/6 stages with a signal
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — COL7A1
- LiteraturePresent
3,603 matched papers (2,435 in last 10 years) Source
- Phenotype characterisedPresent
111 HPO annotations (e.g. Squamous cell carcinoma; Anemia; Corneal scarring) Source
- Animal modelPresent
7 genotype models (Mus musculus, Rattus norvegicus) Source
- Orphan designationPresent
1 FDA designation (1 FDA orphan-indication approval) — e.g. Angiotensin (1-7) Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
111
Associated phenotypes · MONDO:0009179
- Squamous cell carcinoma
- Anemia
- Corneal scarring
- Constipation
- Dysphagia
Showing 5 of 111 — open Monarch for the full list.
Animal models (Monarch / Alliance)
7
Model associations linked to this Mondo ID
- Col7a1tm1Lbt/Col7a1tm1Lbt [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl·MGI:3809430·Mus musculus
- Grip1tm1Paw/Grip1tm1Paw [background:] involves: 129X1/SvJ * ICR·MGI:2654707·Mus musculus
- LEW-Col7a1em1Jtol-/-·RGD:598130079·Rattus norvegicus
- Col7a1tm1Uit/Col7a1tm1Uit [background:] involves: 129S1/Sv·MGI:4417895·Mus musculus
- Col7a1em#Jtol/Col7a1em#Jtol [background:] involves: 129S4/SvJae * BALB/c * C57BL/Ka * NOD·MGI:6390913·Mus musculus
- Col7a1tm1Uit/Col7a1tm1Uit Tg(KRT14-COL7A1*)1Shzu/0 [background:] involves: 129S1/Sv * C57BL/6 * DBA/2·MGI:4417900·Mus musculus
- Col7a1tm1Uit/Col7a1tm1Uit [background:] involves: 129S1/Sv * C57BL/6J·MGI:3037979·Mus musculus
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)
1
Designation · 1 with FDA orphan-indication approval
- FDA Angiotensin (1-7)Recessive dystrophic epidermolysis bullosa · 2016-09-01 · Not FDA Approved for Orphan Indication
Sources: FDA OOPD · EMA orphan designations
Open Targets candidates
16
Drugs / clinical candidates · MONDO_0009179
- ALLANTOIN·phase 3
- DABOCEMAGENE AUTOFICEL·phase 3
- NELITOLIMOD·phase 3
- PRADEMAGENE ZAMIKERACEL·phase 3
- ISOTRETINOIN·phase 1
- ALEMTUZUMAB·early phase 1
- BEREMAGENE GEPERPAVEC·phase 1 2
- BUSULFAN·early phase 1
- CYCLOPHOSPHAMIDE·unknown
- EFGARTIGIMOD ALFA·phase 1 2
- FLUDARABINE·early phase 1
- FLUDARABINE PHOSPHATE·unknown
- GENTAMICIN·phase 1 2
- GENTAMICIN SULFATE·phase 1 2
- HUMAN IMMUNOGLOBULIN G·phase 1 2
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
3,603
3,603 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.
3,603 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).
2,435 in the last 10 years · high confidence · 91.1th 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?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 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?
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).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-30
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 (2)
- ctis·2024-516018-39-00·Authorised·SEM-CORTICO.Severe erythema multiform: A randomized controlled trial com-paring a short systemic corticosteroids regimen to placebo in the acute established phase.
skipped — LLM skipped (--skip-llm)
- ctis·2022-500870-32-02·Authorised, ongoing·Evaluation of the effectiveness of the reconsolidation therapy in a clinical population suffering from post-traumatic stress disorder
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 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form — 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.
("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" OR "COL7A1 syndrome" OR "COL7A1-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T02:22:58.074Z