Epidermolysis bullosa simplex

Summary

Epidermolysis bullosa simplex (MONDO:0017610) is a disease (an umbrella term covering 20 Mondo subtypes) caused by variants in ITGB4, KRT14, and PLEC, with 4 cohort genes and 17 clinical trials. The dominant Reactome pathway is Type I hemidesmosome assembly (4 cohort genes). Top therapeutic interventions include cravacitinib, diacerein, and vehicle.

At a glance

• Prevalence: 1-9 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal genes: ITGB4 (GenCC Definitive), KRT14 (GenCC Definitive), PLEC (GenCC Strong)
• Umbrella term: 20 Mondo subtypes
• Cohort genes: 4
• ClinVar variants: 107
• Clinical trials: 17

Clinical features

Epidemiology

Prevalence records

4 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 1 000 000	0.656	Worldwide	Validated
Point prevalence	1-9 / 1 000 000	0.58	Australia	Validated
Point prevalence	1-9 / 100 000	1.19	Netherlands	Validated
Point prevalence	1-9 / 1 000 000	0.197	Romania	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	epidermolysis bullosa simplex
Mondo ID	MONDO:0017610
MeSH	D016110
OMIM	131760
Orphanet	304
DOID	DOID:4644
ICD-10-CM	Q81.0
ICD-11	1860717527
NCIT	C84692
SNOMED CT	67144006
UMLS	C0079298
MedGen	86896
GARD	0010752
Is cancer (heuristic)	no

Also known as: EBS · EEB · epidermolysis bullosa intraepidermic · epidermolysis bullosa simplex

Data availability: 107 ClinVar variants · 3 GenCC gene-disease records · 24 cell lines.

Disease family

An umbrella term covering 20 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › vesiculobullous skin disease › epidermolysis bullosa › inherited epidermolysis bullosa › epidermolysis bullosa simplex

Related subtypes (3): epidermolysis bullosa dystrophica, Kindler syndrome, junctional epidermolysis bullosa

Subtypes (20): epidermolysis bullosa simplex 1A, generalized severe, epidermolysis bullosa simplex 1C, localized, epidermolysis bullosa simplex 1B, generalized intermediate, epidermolysis bullosa simplex 5A, Ogna type, epidermolysis bullosa simplex 2F, with mottled pigmentation, epidermolysis bullosa simplex 5B, with muscular dystrophy, epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, epidermolysis bullosa simplex 7, with nephropathy and deafness, epidermolysis bullosa simplex 2E, with migratory circinate erythema, epidermolysis bullosa simplex 5C, with pyloric atresia, epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, epidermolysis bullosa simplex with nail dystrophy, epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, suprabasal epidermolysis bullosa simplex, epidermolysis bullosa simplex with anodontia/hypodontia, epidermolysis bullosa simplex 2A, generalized severe, epidermolysis bullosa simplex 2B, generalized intermediate, epidermolysis bullosa simplex 2C, localized, epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

107 retrieved; paginated sample, class counts are floors:

31 pathogenic, 26 uncertain significance, 24 benign, 7 conflicting classifications of pathogenicity, 7 benign/likely benign, 7 likely benign, 4 pathogenic/likely pathogenic, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1048024	NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter)	KRT14	Pathogenic	criteria provided, single submitter
1048025	NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg)	KRT14	Pathogenic	criteria provided, single submitter
1048026	NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln)	KRT14	Pathogenic	criteria provided, single submitter
1048027	NM_000526.5(KRT14):c.1274+5G>C	KRT14	Pathogenic	criteria provided, single submitter
14612	NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)	KRT14	Pathogenic	criteria provided, multiple submitters, no conflicts
66316	NM_000526.5(KRT14):c.1231_1233del (p.Glu411del)	KRT14	Pathogenic	criteria provided, single submitter
66322	NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys)	KRT14	Pathogenic	criteria provided, single submitter
66339	NM_000526.5(KRT14):c.346A>T (p.Lys116Ter)	KRT14	Pathogenic	criteria provided, single submitter
66353	NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp)	KRT14	Pathogenic	criteria provided, single submitter
66358	NM_000526.5(KRT14):c.397G>T (p.Val133Leu)	KRT14	Pathogenic	criteria provided, multiple submitters, no conflicts
66375	NM_000526.5(KRT14):c.749del (p.Lys250fs)	KRT14	Pathogenic	criteria provided, single submitter
66378	NM_000526.5(KRT14):c.815T>C (p.Met272Thr)	KRT14	Pathogenic	criteria provided, multiple submitters, no conflicts
1047955	NM_000424.4(KRT5):c.556-16C>G	KRT5	Pathogenic	criteria provided, single submitter
1047988	NM_000424.4(KRT5):c.587T>C (p.Leu196Pro)	KRT5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1047989	NM_000424.4(KRT5):c.771delG	KRT5	Pathogenic	criteria provided, single submitter
1047990	NM_000424.4(KRT5):c.961A>C (p.Thr321Pro)	KRT5	Pathogenic	criteria provided, single submitter
1047991	NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln)	KRT5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14639	NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro)	KRT5	Pathogenic	criteria provided, multiple submitters, no conflicts
14644	NM_000424.4(KRT5):c.579C>G (p.Asn193Lys)	KRT5	Pathogenic	criteria provided, single submitter
14648	NM_000424.4(KRT5):c.74C>T (p.Pro25Leu)	KRT5	Pathogenic	criteria provided, multiple submitters, no conflicts
14652	NM_000424.4(KRT5):c.556G>T (p.Val186Leu)	KRT5	Pathogenic	criteria provided, single submitter
14655	NM_000424.4(KRT5):c.1649del (p.Gly550fs)	KRT5	Pathogenic	criteria provided, multiple submitters, no conflicts
14657	NM_000424.4(KRT5):c.508G>A (p.Glu170Lys)	KRT5	Pathogenic	criteria provided, multiple submitters, no conflicts
21174	NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)	KRT5	Pathogenic	criteria provided, multiple submitters, no conflicts
66202	NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr)	KRT5	Pathogenic	criteria provided, single submitter
66203	NM_000424.4(KRT5):c.1283C>T (p.Ala428Val)	KRT5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
66208	NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp)	KRT5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
66246	NM_000424.4(KRT5):c.495G>T (p.Arg165Ser)	KRT5	Pathogenic	criteria provided, multiple submitters, no conflicts
66267	NM_000424.4(KRT5):c.556G>A (p.Val186Met)	KRT5	Pathogenic	criteria provided, multiple submitters, no conflicts
66268	NM_000424.4(KRT5):c.557T>A (p.Val186Glu)	KRT5	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 57 · Orphanet: 23 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
ITGB4	Definitive	Autosomal recessive	junctional epidermolysis bullosa with pyloric atresia	14
KRT14	Definitive	Autosomal recessive	epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	25
PLEC	Strong	Autosomal dominant	epidermolysis bullosa simplex 5A, Ogna type	18

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
KRT14	Orphanet:69087	Naegeli-Franceschetti-Jadassohn syndrome
KRT14	Orphanet:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form
KRT14	Orphanet:79397	Epidermolysis bullosa simplex with mottled pigmentation
KRT14	Orphanet:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
KRT14	Orphanet:79400	Localized epidermolysis bullosa simplex
KRT14	Orphanet:86920	Dermatopathia pigmentosa reticularis
KRT14	Orphanet:89838	Autosomal recessive generalized epidermolysis bullosa simplex
PLEC	Orphanet:1114	Aplasia cutis congenita
PLEC	Orphanet:158684	Epidermolysis bullosa simplex with pyloric atresia
PLEC	Orphanet:254361	Plectin-related limb-girdle muscular dystrophy R17
PLEC	Orphanet:257	Epidermolysis bullosa simplex with muscular dystrophy
PLEC	Orphanet:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
ITGB4	Orphanet:1114	Aplasia cutis congenita
ITGB4	Orphanet:158684	Epidermolysis bullosa simplex with pyloric atresia
ITGB4	Orphanet:251393	Localized junctional epidermolysis bullosa
ITGB4	Orphanet:79402	Intermediate generalized junctional epidermolysis bullosa
ITGB4	Orphanet:79403	Junctional epidermolysis bullosa with pyloric atresia
KRT5	Orphanet:158681	Epidermolysis bullosa simplex with circinate migratory erythema
KRT5	Orphanet:79145	Dowling-Degos disease
KRT5	Orphanet:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form
KRT5	Orphanet:79397	Epidermolysis bullosa simplex with mottled pigmentation
KRT5	Orphanet:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
KRT5	Orphanet:79400	Localized epidermolysis bullosa simplex

Cohort genes → proteins

4 cohort genes, 4 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	4

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
KRT14	HGNC:6416	ENSG00000186847	P02533	Keratin, type I cytoskeletal 14	gencc,clinvar
PLEC	HGNC:9069	ENSG00000178209	Q15149	Plectin	gencc,clinvar
ITGB4	HGNC:6158	ENSG00000132470	P16144	Integrin beta-4	gencc
KRT5	HGNC:6442	ENSG00000186081	P13647	Keratin, type II cytoskeletal 5	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
KRT14	Keratin, type I cytoskeletal 14	The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.
PLEC	Plectin	Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes.
ITGB4	Integrin beta-4	Integrin alpha-6/beta-4 is a receptor for laminin.
KRT5	Keratin, type II cytoskeletal 5	Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 2 · Druggable fraction: 0.25

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Antibody/Immunoglobulin	1	7.3×	0.318
Scaffold/PPI	1	4.3×	0.318
Other/Unknown	2	0.9×	0.769

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
KRT14	Other/Unknown	no		Keratin_I, IF_conserved, IF_rod_dom
PLEC	Scaffold/PPI	no		Plectin_repeat, SH3_domain, Actinin_actin-bd_CS
ITGB4	Antibody/Immunoglobulin	yes		EGF, Integrin_bsu_VWA, Calx_beta
KRT5	Other/Unknown	no		Keratin_II, IF_conserved, Keratin_2_head

Expression context

Cohort genes with no expression data: 0.

4 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	4
unknown	0

Top tissues across cohort

Tissue	Cohort genes
gingiva	2
tibial nerve	2
gingival epithelium	1
upper arm skin	1
hindlimb stylopod muscle	1
sural nerve	1
minor salivary gland	1
skin of leg	1
lower esophagus mucosa	1
pharyngeal mucosa	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
KRT14	193	broad	marker	gingiva, gingival epithelium, upper arm skin
PLEC	283	ubiquitous	marker	sural nerve, hindlimb stylopod muscle, tibial nerve
ITGB4	267	broad	marker	tibial nerve, minor salivary gland, skin of leg
KRT5	211	broad	marker	lower esophagus mucosa, pharyngeal mucosa, gingiva

Protein interactions among cohort

Intra-cohort edges: 5.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PLEC	3,529
KRT5	3,406
KRT14	3,351
ITGB4	2,536

Intra-cohort edges

A	B	Sources
ITGB4	KRT14	string_interaction
ITGB4	PLEC	intact, string_interaction
KRT14	KRT5	intact, string_interaction
KRT14	PLEC	intact, string_interaction
KRT5	PLEC	string_interaction

Structural data

PDB: 4 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PLEC	Q15149	14
ITGB4	P16144	13
KRT14	P02533	2
KRT5	P13647	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 18. Enrichment computed across 4 evidence-associated genes (4 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Type I hemidesmosome assembly	4	1038.2×	8e-12	KRT14, PLEC, ITGB4, KRT5
Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin	3	208.9×	2e-06	KRT14, ITGB4, KRT5
Developmental Cell Lineages	3	167.9×	2e-06	KRT14, ITGB4, KRT5
Cell junction organization	3	140.4×	3e-06	KRT14, ITGB4, KRT5
Cell-Cell communication	3	103.2×	5e-06	KRT14, ITGB4, KRT5
Developmental Lineage of Mammary Gland Myoepithelial Cells	2	271.9×	6e-05	KRT14, KRT5
Assembly of collagen fibrils and other multimeric structures	2	100.2×	4e-04	PLEC, ITGB4
Formation of the cornified envelope	2	43.9×	0.002	KRT14, KRT5
Developmental Biology	3	10.8×	0.003	KRT14, ITGB4, KRT5
Keratinization	2	27.9×	0.003	KRT14, KRT5
Caspase-mediated cleavage of cytoskeletal proteins	1	237.9×	0.007	PLEC
Developmental Lineage of Mammary Stem Cells	1	190.3×	0.008	KRT5
Collagen formation	1	114.2×	0.011	ITGB4
Developmental Lineage of Mammary Gland Luminal Epithelial Cells	1	114.2×	0.011	KRT5
Syndecan interactions	1	105.7×	0.011	ITGB4
Laminin interactions	1	95.2×	0.012	ITGB4
Non-integrin membrane-ECM interactions	1	38.6×	0.027	ITGB4
Extracellular matrix organization	1	15.8×	0.062	ITGB4

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
intermediate filament organization	3	180.6×	2e-05	KRT14, PLEC, KRT5
hemidesmosome assembly	2	1203.7×	3e-05	PLEC, ITGB4
protein-containing complex organization	1	4213.0×	0.002	PLEC
intermediate filament polymerization	1	4213.0×	0.002	KRT5
actomyosin contractile ring assembly actin filament organization	1	4213.0×	0.002	PLEC
epidermis development	2	105.3×	0.002	KRT14, KRT5
skeletal myofibril assembly	1	2106.5×	0.004	PLEC
leukocyte migration involved in immune response	1	1404.3×	0.004	PLEC
peripheral nervous system myelin formation	1	1404.3×	0.004	ITGB4
cellular response to hydrostatic pressure	1	1404.3×	0.004	PLEC
tight junction organization	1	842.6×	0.006	PLEC
intermediate filament bundle assembly	1	702.2×	0.007	KRT14
nail development	1	601.9×	0.007	ITGB4
trophoblast cell migration	1	601.9×	0.007	ITGB4
keratinocyte development	1	383.0×	0.009	PLEC
peripheral nervous system myelin maintenance	1	383.0×	0.009	PLEC
mesodermal cell differentiation	1	383.0×	0.009	ITGB4
skin morphogenesis	1	351.1×	0.009	ITGB4
cellular response to fluid shear stress	1	324.1×	0.010	PLEC
response to radiation	1	300.9×	0.010	KRT14
T cell chemotaxis	1	280.9×	0.010	PLEC
regulation of vascular permeability	1	280.9×	0.010	PLEC
hair cycle	1	234.1×	0.010	KRT14
intermediate filament cytoskeleton organization	1	234.1×	0.010	PLEC
fibroblast migration	1	210.7×	0.010	PLEC
respiratory electron transport chain	1	210.7×	0.010	PLEC
myoblast differentiation	1	210.7×	0.010	PLEC
cell adhesion mediated by integrin	1	168.5×	0.012	ITGB4
transmission of nerve impulse	1	162.0×	0.012	PLEC
filopodium assembly	1	162.0×	0.012	ITGB4

Therapeutics

Drugs indicated or in trials for this disease

No drug has an approved disease-direct ChEMBL indication for this disease.

2 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Diacerein	Phase 2
Onabotulinumtoxina	Phase 2

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 4

Druggability breadth: 2 of 4 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
KRT14	0	0
PLEC	0	0
ITGB4	0	0
KRT5	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PLEC	12	Binding:12
ITGB4	2	Binding:2

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	ITGB4
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	3	KRT14, PLEC, KRT5

Undrugged target profiles

4 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
KRT14	0	—
PLEC	12	—
ITGB4	2	—
KRT5	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 17.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	10
PHASE1	3
Not specified	3
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03453632	PHASE2/PHASE3	UNKNOWN	Injections of Botulinic Toxin in Plantar Lesions of Localized Epidermolysis Bullosa Simplex
NCT06136403	PHASE2	RECRUITING	A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses
NCT06509984	PHASE2	RECRUITING	A 20-Week Study Assessing the Efficacy of Apremilast in Patients with EB Simplex Generalized
NCT07027345	PHASE2	RECRUITING	A Phase II, Placebo Controlled, Clinical Trial of Topical TolaSure Targeting Aggregated Mutant Keratin in Epidermolysis Bullosa Simplex
NCT00936533	PHASE2	UNKNOWN	Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita
NCT02470689	PHASE2	UNKNOWN	Diacerin for the Treatment of Epidermolysis Bullosa Simplex
NCT02960997	PHASE2	COMPLETED	Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study
NCT03016715	PHASE2	UNKNOWN	Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study
NCT03154333	PHASE2	TERMINATED	Safety and Efficacy of Diacerein 1% Ointment for Subjects With Epidermolysis Bullosa Simplex (EBS)
NCT03389308	PHASE2	COMPLETED	Long Term Open-label Study Evaluating Safety of Diacerein 1% Ointment Topical Formulation in Subjects With Epidermolysis Bullosa Simplex
NCT04908215	PHASE2	COMPLETED	INM-755 (Cannabinol) Cream for Treatment of Epidermolysis Bullosa
NCT02592954	PHASE1	COMPLETED	Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin
NCT03472287	PHASE1	COMPLETED	To Evaluate the Pharmacokinetic of Diacerein and Rhein After Maximum Use in Patients With Epidermolysis Bullosa (EB)
NCT05062070	PHASE1	COMPLETED	Safety and Efficacy of Topical TolaSure Targeting Aggregated Mutant Keratin in Severe Epidermolysis Bullosa Simplex
NCT03269474	Not specified	UNKNOWN	Computational Drug Repurposing for All EBS Cases
NCT04213703	Not specified	WITHDRAWN	A Pilot Study to Explore the Role of Gut Flora in Epidermolysis Bullosa
NCT05033574	Not specified	UNKNOWN	The State of Sexual Development in Children With Inherited Epidermolysis Bullosa

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CRAVACITINIB	4	3
DIACEREIN	3	4
VEHICLE	0	3
CHEMBL475165	0	1