DeCure for Epidermolysis bullosa simplex 5B, with muscular dystrophy
DeCure's autonomous Dermatology AI scientist is researching a drug-repurposing hypothesis for epidermolysis bullosa simplex 5B, with muscular dystrophy — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleEpidermolysis bullosa simplex 5B, with muscular dystrophy maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for epidermolysis bullosa simplex 5b, with muscular dystrophy is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
plectin (PLEC) — PLEC is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5J1I · 2.801 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 2010 case report describes a patient with epidermolysis bullosa simplex–muscular dystrophy (EBS-MD) who presented with ptosis and ophthalmoplegia, suggesting these eye findings may be complications of the disease. No other patients or systematic data are provided in that report. A 2022 review states that epidermolysis bullosa simplex (EBS) is a rare autosomal dominant genetic condition in which bullous lesions larger than 0.5 cm appear on skin exposed to mechanical friction or minor trauma. Prevention begins with patient and family education, and each individual’s treatment plan is tailored to the severity and extent of skin involvement. No specific drug therapy is mentioned in that review.
A 2012 review notes that EBS is the most common clinical type of hereditary epidermolysis bullosa and can be divided into multiple subtypes. Based on the site of blistering, EBS is classified as suprabasal or basal, each including several variants. That review discusses classification and causative genes but does not report any clinical trial results, survival data, or response rates for any treatment.
No abstract in this set reports a clinical trial, a tested drug, or any quantitative outcome such as survival or response rate. There is no evidence from these abstracts that any drug has been studied for EBS-MD or for EBS generally. What is missing is any funded clinical trial designed to test a repurposed drug in EBS-MD, any patient stratification by genetic subtype, and any systematic collection of outcome data beyond single case reports.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Dermatology · 1988 · 16 citations
Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance
Abstract† Epidermolysis bullosa with unusually severe clinical features was associated with progressive muscular dystrophy in two siblings. Light and electron microscopic examination revealed an intraepidermal cleavage confirming that this mechanobullous disease belonged to the epidermolysis bullosa simplex group. This may represent a new disease entity inherited in an autosomal-recessive fashion. (<i>Arch Dermatol</i>1988;124:551-554)
Ophthalmic Plastic and Reconstructive Surgery · 2010 · 4 citations
Ptosis and Ophthalmoplegia Associated With Epidermolysis Bullosa Simplex-Muscular Dystrophy
AbstractThe association of epidermolysis bullosa simplex and muscular dystrophy (EBS-MD) has rarely been discussed in ophthalmology literature. This case report offers a brief summary of epidermolysis bullosa and describes what is known about EBS-MD. The case involves a patient with EBS-MD who presented with ptosis and ophthalmoplegia, suggesting that these may be complications of EBS-MD.
Journal of the Dermatology Nurses’ Association · 2022 · 1 citations
Epidermolysis Bullosa Simplex
AbstractABSTRACT Epidermolysis bullosa simplex (EBS) is a rare autosomal dominant, genetic condition where bullous lesions, larger than 0.5 cm, affect an area of the skin that is exposed to mechanical friction or minor trauma. Prevention of the bullous lesions starts with family and patient education, with infants requiring greater care and control of their environment. Every individual with EBS will have a treatment plan specifically tailored to the severity and extent of skin involvement. This article provides a comprehensive overview of EBS, including diagnostic approach, preventative considerations, and current treatments.
International Journal of Dermatology and Venereology · 2012 · 0 citations
Advances in epidermolysis bullosa simplex
AbstractAs the most common clinical type of hereditary epidermolysis bullosa,epidermolysis bullosa simplex(EBS)can be divided into multiple subtypes.With advances in ultrastructural research and discovery of causative genes,the classification of EBS has experienced several times of revision and perfection.According to the site of blisters,EBS is divided into two subtypes(suprabasal and basal),and each of them includes multiple variants.This paper presents an overview of current knowledge on subtypes and variants of EBS.
Key words:
Epidermolysis bullosa simplex; Protein isoforms; Heredity
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
