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ORPHA:231568

Autosomal dominant generalized dystrophic epidermolysis bullosa

low confidenceDisorder

Also known as: Generalized DDEB

Publications

3,582

Trials

0

Interventional, condition-specific

Researchers

186

Distinct authors in sample

Gene link

COL7A1

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 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.

  1. Gene identifiedPresent

    Definitive — COL7A1

  2. LiteraturePresent

    3,582 matched papers (2,431 in last 10 years) Source

  3. Phenotype characterisedPresent

    21 HPO annotations (e.g. Milia; Nail dystrophy; Recurrent loss of toenails and fingernails) Source

  4. Animal modelPresent

    10 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

21

Associated phenotypes · MONDO:0007549

  • Milia
  • Nail dystrophy
  • Recurrent loss of toenails and fingernails
  • Skin erosion
  • Oral mucosal blisters

Showing 5 of 21 — open Monarch for the full list.

Animal models (Monarch / Alliance)

10

Model associations linked to this Mondo ID

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,582

3,582 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.

3,582 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).

2,431 in the last 10 years · low confidence

Phrase hits: 22 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

186

Distinct author names in 22 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.

  1. 01
    Fine JD2 papers · 2010

    The National Epidermolysis Bullosa Registry, Nashville, TN, USA. jo-david.fine@vanderbilt.edu

    Papers in Europe PMC
  2. 02
    Pasmooij 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
  3. 03
    Van 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
  4. 04
    Agarwal R1 paper · 2023

    Consultant Pediatric Dermatologist, Department of Pediatric Dermatology, Cutis Academy of Cutaneous Sciences, Bengaluru, Karnataka, India.

    Papers in Europe PMC
  5. 05
    Ali FM1 paper · 2024

    Department of Pediatrics, The Affiliated Hospital of Jiangsu University, Zhenjiang, Jiangsu, China.

    Papers in Europe PMC
  6. 06
    Anghel L1 paper · 2023

    Clinical Medical Department, Faculty of Medicine and Pharmacy, "Dunărea de Jos" University, 800008 Galați, Romania.

    Papers in Europe PMC
  7. 07
    Aria M1 paper · 2017

    Department of Economics and Statistics, Federico II University of Naples, Naples, Italy.

    Papers in Europe PMC
  8. 08
    Ascencio 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
  9. 09
    Bae KN1 paper · 2022

    Department of Dermatology, School of Medicine, Pusan National University, Busan, Korea.

    Papers in Europe PMC
  10. 10
    Bartnik-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?

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.

low 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 dominant generalized dystrophic epidermolysis bullosa — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("COL7A1" OR "COL7A1 syndrome" OR "COL7A1-related")

Run this search on Europe PMC

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"

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
  • Publication count (3582) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T10:18:29.463Z