Epidermolysis bullosa

Summary

Epidermolysis bullosa (MONDO:0006541) is a disease caused by variants in KRT14 and KRT5, with 5 cohort genes and 61 clinical trials. The dominant Reactome pathway is Type I hemidesmosome assembly (4 cohort genes). Top therapeutic interventions include efgartigimod alfa, erythromycin, and gentamicin sulfate.

At a glance

• Causal genes: KRT14 (GenCC Strong), KRT5 (GenCC Strong)
• Cohort genes: 5
• ClinVar variants: 12
• Clinical trials: 61

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	epidermolysis bullosa
Mondo ID	MONDO:0006541
EFO	EFO:1000690
MeSH	D004820
DOID	DOID:2730
ICD-10-CM	Q81
NCIT	C67383
SNOMED CT	61003004
UMLS	C0014527
MedGen	41832
GARD	0006359
Is cancer (heuristic)	no

Also known as: EB · epidermolysis bullosa

Data availability: 12 ClinVar variants · 4 GenCC gene-disease records · 4 cell lines.

Disease family

An umbrella term covering 2 Mondo subtypes.

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

Related subtypes (7): cellulitis, herpes zoster, chickenpox, gas gangrene, autoimmune bullous skin disease, eosinophilic pustular folliculitis, papular urticaria

Subtypes (2): acquired epidermolysis bullosa, inherited epidermolysis bullosa

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

12 retrieved; paginated sample, class counts are floors:

5 pathogenic, 4 pathogenic/likely pathogenic, 2 likely pathogenic, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1353778	NM_000094.4(COL7A1):c.2927G>A (p.Trp976Ter)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1676639	NM_000094.4(COL7A1):c.977-1G>C	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2203368	NM_000094.4(COL7A1):c.6017G>C (p.Gly2006Ala)	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
372335	NM_000094.4(COL7A1):c.4767del (p.Asp1590fs)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
4813609	NM_000094.4(COL7A1):c.6125C>T (p.Pro2042Leu)	COL7A1	Pathogenic	criteria provided, single submitter
488390	NM_000094.4(COL7A1):c.3265C>T (p.Gln1089Ter)	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
66281	NM_000424.4(KRT5):c.596A>T (p.Lys199Met)	KRT5	Pathogenic	criteria provided, single submitter
66299	NM_000424.4(KRT5):c.992G>A (p.Arg331His)	KRT5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1301693	NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter)	LAMB3	Pathogenic	criteria provided, single submitter
1526406	NM_000210.4(ITGA6):c.140C>T (p.Ser47Leu)	ITGA6	Likely pathogenic	criteria provided, single submitter
3384010	NM_000228.3(LAMB3):c.1296_1297insA (p.Cys433fs)	LAMB3	Likely pathogenic	criteria provided, single submitter
3770237	NM_000526.5(KRT14):c.346_348del (p.Lys116del)	KRT14	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 45 · Orphanet: 26 · 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
KRT14	Definitive	Autosomal recessive	epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	25
KRT5	Definitive	Autosomal dominant	epidermolysis bullosa simplex 1A, generalized severe	20

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
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
COL7A1	Orphanet:158673	Localized dystrophic epidermolysis bullosa, acral form
COL7A1	Orphanet:158676	Localized dystrophic epidermolysis bullosa, nails only
COL7A1	Orphanet:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa
COL7A1	Orphanet:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
COL7A1	Orphanet:79409	Recessive dystrophic epidermolysis bullosa inversa
COL7A1	Orphanet:79410	Localized dystrophic epidermolysis bullosa, pretibial form
COL7A1	Orphanet:79411	Self-improving dystrophic epidermolysis bullosa
COL7A1	Orphanet:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
COL7A1	Orphanet:89843	Dystrophic epidermolysis bullosa pruriginosa
ITGA6	Orphanet:79403	Junctional epidermolysis bullosa with pyloric atresia
LAMB3	Orphanet:100031	Hypoplastic amelogenesis imperfecta
LAMB3	Orphanet:79402	Intermediate generalized junctional epidermolysis bullosa
LAMB3	Orphanet:79404	Severe generalized junctional epidermolysis bullosa

Cohort genes → proteins

5 cohort genes, 5 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
KRT14	HGNC:6416	ENSG00000186847	P02533	Keratin, type I cytoskeletal 14	gencc,clinvar
KRT5	HGNC:6442	ENSG00000186081	P13647	Keratin, type II cytoskeletal 5	gencc,clinvar
COL7A1	HGNC:2214	ENSG00000114270	Q02388	Collagen alpha-1(VII) chain	clinvar
ITGA6	HGNC:6142	ENSG00000091409	P23229	Integrin alpha-6	clinvar
LAMB3	HGNC:6490	ENSG00000196878	Q13751	Laminin subunit beta-3	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.
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.
COL7A1	Collagen alpha-1(VII) chain	Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV c…
ITGA6	Integrin alpha-6	Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets.
LAMB3	Laminin subunit beta-3	Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

Protein-family classification

Druggable: 2 · Difficult: 0 · Unknown: 3 · Druggable fraction: 0.4

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	2	11.7×	0.022
Other/Unknown	3	1.1×	0.608

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
KRT14	Other/Unknown	no		Keratin_I, IF_conserved, IF_rod_dom
KRT5	Other/Unknown	no		Keratin_II, IF_conserved, Keratin_2_head
COL7A1	Antibody/Immunoglobulin	yes		VWF_A, Kunitz_BPTI, FN3_dom
ITGA6	Antibody/Immunoglobulin	yes		Integrin_alpha, FG-GAP, Int_alpha_beta-p
LAMB3	Other/Unknown	no		EGF, LE_dom, Laminin_N

Expression context

Cohort genes with no expression data: 0.

5 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)	5
unknown	0

Top tissues across cohort

Tissue	Cohort genes
gingiva	2
gingival epithelium	2
upper arm skin	1
lower esophagus mucosa	1
pharyngeal mucosa	1
skin of abdomen	1
skin of leg	1
stromal cell of endometrium	1
dorsal root ganglion	1
sural nerve	1
tibial nerve	1
cartilage tissue	1
periodontal ligament	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
KRT5	211	broad	marker	lower esophagus mucosa, pharyngeal mucosa, gingiva
COL7A1	267	ubiquitous	marker	stromal cell of endometrium, skin of abdomen, skin of leg
ITGA6	297	ubiquitous	marker	tibial nerve, sural nerve, dorsal root ganglion
LAMB3	215	ubiquitous	marker	cartilage tissue, periodontal ligament, gingival epithelium

Protein interactions among cohort

Intra-cohort edges: 4.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KRT5	3,406
KRT14	3,351
ITGA6	3,130
COL7A1	1,767
LAMB3	1,697

Intra-cohort edges

A	B	Sources
COL7A1	LAMB3	biogrid_interaction, string_interaction
ITGA6	KRT14	string_interaction
ITGA6	LAMB3	string_interaction
KRT14	KRT5	intact, string_interaction

Structural data

PDB: 3 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KRT14	P02533	2
KRT5	P13647	2
ITGA6	P23229	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
LAMB3	Q13751	78.55
COL7A1	Q02388

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 38. Enrichment computed across 5 evidence-associated genes (5 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 5 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	830.5×	9e-11	KRT14, KRT5, ITGA6, LAMB3
Cell junction organization	4	149.8×	7e-08	KRT14, KRT5, ITGA6, LAMB3
Cell-Cell communication	4	110.1×	2e-07	KRT14, KRT5, ITGA6, LAMB3
Developmental Lineage of Mammary Gland Myoepithelial Cells	3	326.3×	5e-07	KRT14, KRT5, ITGA6
Laminin interactions	3	228.4×	1e-06	COL7A1, ITGA6, LAMB3
Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin	3	167.1×	3e-06	KRT14, KRT5, ITGA6
Developmental Cell Lineages	3	134.3×	5e-06	KRT14, KRT5, ITGA6
Assembly of collagen fibrils and other multimeric structures	3	120.2×	6e-06	COL7A1, ITGA6, LAMB3
Anchoring fibril formation	2	304.5×	6e-05	COL7A1, LAMB3
Developmental Lineage of Mammary Stem Cells	2	304.5×	6e-05	KRT5, ITGA6
Collagen formation	2	182.7×	1e-04	ITGA6, LAMB3
Developmental Lineage of Mammary Gland Luminal Epithelial Cells	2	182.7×	1e-04	KRT5, ITGA6
Non-integrin membrane-ECM interactions	2	61.7×	0.001	ITGA6, LAMB3
Integrin cell surface interactions	2	53.7×	0.001	COL7A1, ITGA6
Formation of the cornified envelope	2	35.1×	0.003	KRT14, KRT5
Extracellular matrix organization	2	25.2×	0.006	ITGA6, LAMB3
Keratinization	2	22.3×	0.007	KRT14, KRT5
Developmental Biology	3	8.7×	0.007	KRT14, KRT5, ITGA6
Developmental Lineage of Mammary Gland Alveolar Cells	1	126.9×	0.016	ITGA6
MET promotes cell motility	1	120.2×	0.016	LAMB3
Fibronectin matrix formation	1	114.2×	0.016	COL7A1
Attachment of bacteria to epithelial cells	1	99.3×	0.017	LAMB3
Basigin interactions	1	87.8×	0.019	ITGA6
Syndecan interactions	1	84.6×	0.019	ITGA6
MET activates PTK2 signaling	1	76.1×	0.020	LAMB3
Cargo concentration in the ER	1	67.2×	0.022	COL7A1
Signaling by MET	1	63.4×	0.022	LAMB3
Formation of the dystrophin-glycoprotein complex (DGC)	1	61.7×	0.022	LAMB3
Collagen chain trimerization	1	51.9×	0.025	COL7A1
Developmental Lineage of Pancreatic Ductal Cells	1	45.7×	0.027	LAMB3

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
epidermis development	4	168.5×	7e-08	KRT14, KRT5, COL7A1, LAMB3
endodermal cell differentiation	2	198.3×	6e-04	COL7A1, LAMB3
intermediate filament organization	2	96.3×	0.002	KRT14, KRT5
intermediate filament polymerization	1	3370.4×	0.002	KRT5
ectodermal cell differentiation	1	842.6×	0.007	ITGA6
cell-substrate junction assembly	1	561.7×	0.008	ITGA6
intermediate filament bundle assembly	1	561.7×	0.008	KRT14
nail development	1	481.5×	0.008	ITGA6
skin morphogenesis	1	280.9×	0.012	ITGA6
response to radiation	1	240.7×	0.013	KRT14
hair cycle	1	187.2×	0.015	KRT14
cell-substrate adhesion	1	153.2×	0.016	ITGA6
cell adhesion	2	15.0×	0.016	COL7A1, LAMB3
leukocyte migration	1	124.8×	0.018	ITGA6
brown fat cell differentiation	1	86.4×	0.023	LAMB3
negative regulation of extrinsic apoptotic signaling pathway	1	84.3×	0.023	ITGA6
morphogenesis of an epithelium	1	68.8×	0.026	KRT14
response to mechanical stimulus	1	60.2×	0.027	KRT5
stem cell differentiation	1	60.2×	0.027	KRT14
positive regulation of GTPase activity	1	55.2×	0.028	ITGA6
keratinocyte differentiation	1	49.6×	0.030	KRT14
keratinization	1	46.8×	0.030	KRT5
regulation of protein localization	1	41.1×	0.032	KRT5
cell-matrix adhesion	1	32.7×	0.037	ITGA6
integrin-mediated signaling pathway	1	32.1×	0.037	ITGA6
regulation of cell migration	1	31.5×	0.037	KRT5
positive regulation of neuron projection development	1	27.4×	0.041	ITGA6
cell-cell adhesion	1	20.3×	0.053	ITGA6
positive regulation of cell migration	1	12.3×	0.084	ITGA6
positive regulation of apoptotic process	1	11.3×	0.088	ITGA6

Therapeutics

Drugs indicated for this disease

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Erythromycin	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Busulfan, Diacerein, Fludarabine, Mycophenolate Mofetil, Serlopitant, Tacrolimus Anhydrous, Thymosin, Trimethoprim.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 5

Druggability breadth: 3 of 5 evidence-associated genes (60%) 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
KRT5	0	0
COL7A1	0	0
ITGA6	0	0
LAMB3	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
ITGA6	3	Binding:3

Pharmacogenomics

Cohort genes with a PharmGKB record: 5; 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	ITGA6
D	Druggable family + AlphaFold only, no drug	1	COL7A1
E	Difficult family or no structure, no drug	3	KRT14, KRT5, LAMB3

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
KRT14	0	—
KRT5	0	—
COL7A1	0	—
ITGA6	3	—
LAMB3	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 61.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	18
PHASE3	13
PHASE2	12
PHASE1/PHASE2	5
PHASE1	5
PHASE4	4
EARLY_PHASE1	3
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07240649	PHASE4	NOT_YET_RECRUITING	Outcomes From Hyperbaric Oxygen (HBO2) Treatment for Emerging Indications
NCT07596927	PHASE4	ACTIVE_NOT_RECRUITING	Curcumin-Based Photodynamic Therapy in Epidermolysis Bullosa: Wound Healing, Quality of Life, and Salivary Biomarkers
NCT00336154	PHASE4	WITHDRAWN	Study to Evaluate the Efficacy of Tetracycline in Epidermolysis Bullosa
NCT01619670	PHASE4	TERMINATED	A Observational Study to Evaluate Apligraf(R) in Nonhealing Wounds of Subjects With Epidermolysis Bullosa
NCT05464381	PHASE3	ACTIVE_NOT_RECRUITING	Allogeneic ABCB5-positive Dermal Mesenchymal Stromal Cells for Treatment of Epidermolysis Bullosa (Phase III, Cross-over)
NCT05725018	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3b Study for the Treatment of Dystrophic Epidermolysis Bullosa (DEB) in New and Previously EB-101 Treated Patients
NCT05838092	PHASE3	ACTIVE_NOT_RECRUITING	Allogeneic ABCB5-positive Dermal Mesenchymal Stromal Cells for Treatment of Epidermolysis Bullosa (Phase III)
NCT06917690	PHASE3	RECRUITING	A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
NCT07482787	PHASE3	NOT_YET_RECRUITING	Efficacy and Safety Study to Evaluate SD-101 in Epidermolysis Bullosa
NCT07482813	PHASE3	NOT_YET_RECRUITING	An Open Label Extension Safety Study to Evaluate SD-101 in Epidermolysis Bullosa
NCT01340235	PHASE3	UNKNOWN	Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin
NCT01749306	PHASE3	TERMINATED	A Study of the Efficacy and Safety of ABH001 in the Treatment of Patients With Epidermolysis Bullosa Who Have Wounds That Are Not Healing
NCT02384460	PHASE3	COMPLETED	ESSENCE Study: Efficacy and Safety of SD-101 Cream in Participants With Epidermolysis Bullosa
NCT02670330	PHASE3	TERMINATED	Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis Bullosa
NCT03068780	PHASE3	COMPLETED	Phase III Efficacy and Safety Study of Oleogel-S10 in Epidermolysis Bullosa
NCT03928093	PHASE3	COMPLETED	Pregabalin Treatment for RDEB Pain and Itch
NCT04227106	PHASE3	COMPLETED	Phase 3, Open-label Clinical Trial of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB)
NCT04613102	PHASE2/PHASE3	WITHDRAWN	The Efficacy and Safety of 3% Cannabidiol (CBD) Cream in Patients With Epidermolysis Bullosa: A Phase II/III Trial
NCT06594393	PHASE2	RECRUITING	A Phase 2 Study of TCP-25 Gel in Patients With Epidermolysis Bullosa, STEP-study
NCT06834035	PHASE1/PHASE2	RECRUITING	Targeting Collagen VII Antibodies With IV IgG in Dystrophic Epidermolysis Bullosa
NCT07011589	PHASE1/PHASE2	NOT_YET_RECRUITING	Targeting Collagen VII Antibodies in Bullous Diseases Using Efgartigimod IV (VYVGART)
NCT00311766	PHASE2	TERMINATED	A Phase 2 Study on Effect of Thymosin Beta 4 on Wound Healing in Patients With Epidermolysis Bullosa
NCT00380640	PHASE2	COMPLETED	The Efficacy of Trimethoprim in Wound Healing of Patients With Epidermolysis Bullosa
NCT00825565	PHASE2	COMPLETED	Study of Alwextin® Cream in Treating Epidermolysis Bullosa
NCT00987142	PHASE2	COMPLETED	Trial To Assess Efficacy Of A Chimeric Skin In Patients With Epidermolysys Bullosa
NCT01033552	PHASE1/PHASE2	COMPLETED	Biochemical Correction of Severe EB by Allo HSCT and Off-the-shelf MSCs
NCT01263379	PHASE1/PHASE2	COMPLETED	Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa
NCT02014376	PHASE2	COMPLETED	Study of Effectiveness and Safety of SD-101 in Participants With Epidermolysis Bullosa
NCT02090283	PHASE2	TERMINATED	Open-Label Extension Study to Evaluate the Safety of SD-101 Cream in Participants With Epidermolysis Bullosa
NCT02582775	PHASE2	COMPLETED	MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs
NCT02654483	PHASE2	COMPLETED	Neurokinin-1 Receptor Antagonist for the Treatment of Itch in EB Patients
NCT03389308	PHASE2	COMPLETED	Long Term Open-label Study Evaluating Safety of Diacerein 1% Ointment Topical Formulation in Subjects With Epidermolysis Bullosa Simplex
NCT03836001	PHASE2	COMPLETED	A Neurokinin-1 Receptor Antagonist for the Treatment of Pruritus in Patients With Epidermolysis Bullosa
NCT04644627	PHASE1/PHASE2	COMPLETED	Topical Gentamicin Nonsense Suppression Therapy of EB
NCT05288478	PHASE2	UNKNOWN	Dose-ranging Study of Dentoxol® Mouthrinse for Managing Oral Symptoms in People With Epidermolysis Bullosa.
NCT06713434	PHASE1	ACTIVE_NOT_RECRUITING	Pilot Study of ELK-003 Eye Drops for Treating Ocular Manifestations of Epidermolysis Bullosa
NCT00014729	PHASE1	COMPLETED	Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa
NCT02793960	PHASE1	COMPLETED	Topical BPM31510 3.0% Cream in Patients With Epidermolysis Bullosa
NCT03472287	PHASE1	COMPLETED	To Evaluate the Pharmacokinetic of Diacerein and Rhein After Maximum Use in Patients With Epidermolysis Bullosa (EB)
NCT05378997	PHASE1	COMPLETED	Safety, Tolerability, and Pharmacokinetics of Ascending Topical Doses of TCP-25 Applied to Epidermal Suction Blister Wounds, Non-Healing Leg Ulcers and Patients With Dystrophic Epidermolysis Bullosa.

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
EFGARTIGIMOD ALFA	4	1
ERYTHROMYCIN	4	1
GENTAMICIN SULFATE	4	1
ISOTRETINOIN	4	1
LORAZEPAM	4	1
OXYGEN	4	1
PALIFERMIN	4	1
TETRACYCLINE	4	1
TRIMETHOPRIM	4	1
DIACEREIN	3	2
SERLOPITANT	3	2
PRADEMAGENE ZAMIKERACEL	3	1
UBIDECARENONE	3	1
ALLANTOIN	2	1
CHEMBL5093910	0	1
CHEMBL1087542	0	1