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ORPHA:257

Epidermolysis bullosa simplex with muscular dystrophy

high confidenceDisorder

Also known as: EBS with muscular dystrophy · EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Publications

188

63.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,152

Distinct authors in sample

Gene link

PLEC

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular .

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

epidermolysis bullosa simplex 5B, with muscular dystrophy · epidermolysis bullosa simplex and limb-girdle muscular dystrophy · epidermolysis bullosa simplex with muscular dystrophy · limb-girdle muscular dystrophy with epidermolysis bullosa simplex

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — PLEC

  2. LiteraturePresent

    188 matched papers (86 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 17 for broader category epidermolysis bullosa simplex

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 (PLEC).

GenCC classification: Strong.

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?

188

188 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.

188 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).

86 in the last 10 years · high confidence · 63.9th percentile (publications denominator)

Phrase hits: 188 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,152

Distinct author names in 188 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
    Wiche G47 papers · 2026

    Department of Biochemistry and Cell Biology, Max F. Perutz Laboratories, University of Vienna, 1030 Vienna, Austria gerhard.wiche@univie.ac.at.

    Papers in Europe PMC
  2. 02
    Winter L16 papers · 2026

    Department of Biochemistry and Cell Biology, Max F. Perutz Laboratories, University of Vienna, Dr. Bohrgasse 9, 1030 Vienna, Austria.

    Papers in Europe PMC
  3. 03
    Schröder R12 papers · 2025

    Neurologische Klinik und Poliklinik, Universität Bonn, Germany.

    Papers in Europe PMC
  4. 04
    Fischer I11 papers · 2023

    Department of Biochemistry and Cell Biology, Max F. Perutz Laboratories, University of Vienna, 1030 Vienna, Austria.

    Papers in Europe PMC
  5. 05
    Uitto J9 papers · 2022

    Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  6. 06
    Walko G9 papers · 2021

    Department of Biochemistry and Cell Biology, Max F. Perutz Laboratories, University of Vienna, 1030 Vienna, Austria.

    Papers in Europe PMC
  7. 07
    Castañón MJ7 papers · 2021

    Max F. Perutz Laboratories, Department of Biochemistry and Cell Biology, University of Vienna, 1030, Vienna, Austria.

    Papers in Europe PMC
  8. 08
    Bauer JW6 papers · 2023

    Department of Dermatology, Children's Hospital Salzburg, Austria. jo.bauer@lks.at

    Papers in Europe PMC
  9. 09
    Reipert S6 papers · 2015

    Department of Biochemistry and Cell Biology, Max F. Perutz Laboratories, University of Vienna, 1030 Vienna, Austria.

    Papers in Europe PMC
  10. 10
    Shimizu H6 papers · 2010

    Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo 160-8582, Japan. shimizu@med.hokudai.ac.jp

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 17 trials are registered for epidermolysis bullosa simplex, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

17 interventional trials matched epidermolysis bullosa simplex, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: epidermolysis bullosa simplex

17

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

  • NCT01403402·RECRUITING·Congenital Muscle Disease Study of Patient and Family Reported Medical Information

    Conditions: Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)·Matched via recall expansion

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Epidermolysis bullosa simplex with muscular dystrophy" OR "EBS with muscular dystrophy" OR "EBS-MD" OR "Limb-girdle muscular dystrophy with epidermolysis bullosa simplex" OR "epidermolysis bullosa simplex 5B, with muscular dystrophy" OR "epidermolysis bullosa simplex and limb-girdle muscular dystrophy"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Epidermolysis bullosa simplex with muscular dystrophy" OR "EBS with muscular dystrophy" OR "EBS-MD" OR "Limb-girdle muscular dystrophy with epidermolysis bullosa simplex" OR "epidermolysis bullosa simplex 5B, with muscular dystrophy" OR "epidermolysis bullosa simplex and limb-girdle muscular dystrophy" OR "PLEC"

Recall-expansion terms: PLEC

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"epidermolysis bullosa simplex"

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 2026-07-26T13:06:14.492Z