EPN3

Summary

EPN3 (epsin 3, HGNC:18235) is a protein-coding gene on chromosome 17q21.33, encoding Epsin-3 (Q9H201).

Predicted to enable clathrin binding activity and phospholipid binding activity. Predicted to be involved in endocytosis. Located in several cellular components, including clathrin-coated vesicle; cytoplasmic side of plasma membrane; and perinuclear region of cytoplasm.

Source: NCBI Gene 55040 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 157 total
• MANE Select transcript: NM_017957

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18235
Approved symbol	EPN3
Name	epsin 3
Location	17q21.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20778, MGC129899
Ensembl gene	ENSG00000049283
Ensembl biotype	protein_coding
OMIM	607264
Entrez	55040

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 15 protein_coding, 6 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay

ENST00000268933, ENST00000503246, ENST00000503690, ENST00000504857, ENST00000507467, ENST00000507709, ENST00000507998, ENST00000510045, ENST00000510462, ENST00000511414, ENST00000512291, ENST00000512379, ENST00000514874, ENST00000515028, ENST00000515126, ENST00000571402, ENST00000574464, ENST00000883551, ENST00000883552, ENST00000883553, ENST00000883554, ENST00000883555, ENST00000883556, ENST00000958978, ENST00000958979

RefSeq mRNA: 1 — MANE Select: NM_017957 NM_017957

CCDS: CCDS11570

Canonical transcript exons

ENST00000268933 — 10 exons

Exon	Start	End
ENSE00000737149	50538884	50538964
ENSE00000819918	50536421	50537118
ENSE00002057561	50532735	50532985
ENSE00002074029	50541844	50543750
ENSE00003467348	50540793	50541062
ENSE00003485889	50540247	50540334
ENSE00003495621	50539187	50539315
ENSE00003631482	50541464	50541694
ENSE00003642383	50538079	50538197
ENSE00003665960	50541229	50541333

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 95.26.

FANTOM5 (CAGE): breadth broad, TPM avg 4.8790 / max 177.3424, expressed in 435 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161676	3.1540	381
161677	0.8474	261
161680	0.4876	131
161675	0.3049	130
161679	0.0337	16
161678	0.0303	9
161674	0.0212	13

Top tissues by expression

135 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	95.26	gold quality
esophagus mucosa	UBERON:0002469	93.09	gold quality
apex of heart	UBERON:0002098	91.48	gold quality
skin of leg	UBERON:0001511	89.59	gold quality
mucosa of transverse colon	UBERON:0004991	89.01	gold quality
zone of skin	UBERON:0000014	88.89	gold quality
skin of abdomen	UBERON:0001416	88.09	gold quality
body of stomach	UBERON:0001161	87.46	gold quality
body of pancreas	UBERON:0001150	86.52	gold quality
stomach	UBERON:0000945	86.37	gold quality
prostate gland	UBERON:0002367	85.73	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.41	gold quality
saliva-secreting gland	UBERON:0001044	84.52	gold quality
left adrenal gland cortex	UBERON:0035825	84.44	gold quality
minor salivary gland	UBERON:0001830	84.13	gold quality
left adrenal gland	UBERON:0001234	84.10	gold quality
right adrenal gland	UBERON:0001233	83.98	gold quality
right adrenal gland cortex	UBERON:0035827	83.97	gold quality
fundus of stomach	UBERON:0001160	83.93	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.54	silver quality
duodenum	UBERON:0002114	83.46	gold quality
metanephros cortex	UBERON:0010533	82.85	gold quality
placenta	UBERON:0001987	82.48	gold quality
left ovary	UBERON:0002119	82.30	gold quality
ovary	UBERON:0000992	81.96	gold quality
vagina	UBERON:0000996	81.81	gold quality
heart left ventricle	UBERON:0002084	81.80	gold quality
adult mammalian kidney	UBERON:0000082	81.21	gold quality
adrenal gland	UBERON:0002369	81.10	gold quality
pancreas	UBERON:0001264	80.86	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.08

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting EPN3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-6507-3P	99.35	67.32	1059
HSA-MIR-888-5P	99.30	70.15	1855
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-4641	99.28	66.64	744
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-4758-3P	99.12	63.96	869
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-3164	99.02	68.39	1071
HSA-MIR-6820-3P	99.02	68.50	1035

Literature-anchored findings (GeneRIF, showing 5)

• High expression of epsin (EPN3) was associated with increased risk of late metastasis. (PMID:27926932)
• These results suggested that EPN3 enhances the migration and invasion of glioblastoma cells by activating the transcription factors Slug, Twist and ZEB1, but not Snail 1 or ZEB2, to induce EMT in glioma cells; EPN3 involvement in the Notch and WNT/betacatenin signaling pathways may contribute to this process. (PMID:30226603)
• EPN3 plays oncogenic role in non-small cell lung cancer by activating the JAK1/2-STAT3 pathway. (PMID:37186036)
• Expression of Epsin3 and its interaction with Notch signalling in oral epithelial dysplasia and oral squamous cell carcinoma. (PMID:37339783)
• Lowering expression of Epsin-3 inhibits migration and invasion of lung adenocarcinoma cells by inhibiting the epithelial-mesenchymal transition. (PMID:39048677)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	epn3b	ENSDARG00000004633
danio_rerio	epn3a	ENSDARG00000078953
mus_musculus	Epn3	ENSMUSG00000010080
rattus_norvegicus	Epn3	ENSRNOG00000003284
drosophila_melanogaster	lqf	FBGN0028582
caenorhabditis_elegans		WBGENE00001329

Paralogs (5): EPN1 (ENSG00000063245), EPN2 (ENSG00000072134), CLINT1 (ENSG00000113282), MYCBPAP (ENSG00000136449), ENTHD1 (ENSG00000176177)

Protein

Protein identifiers

Epsin-3 — Q9H201 (reviewed: Q9H201)

Alternative names: EPS-15-interacting protein 3

All UniProt accessions (9): D6R907, D6RBA4, D6RBI9, D6RBR6, D6REL6, D6RF39, D6RFG3, I6L9I8, Q9H201

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Perinuclear region. Cytoplasmic vesicle. Clathrin-coated vesicle. Nucleus.

Tissue specificity. Detected in migrating keratinocytes from wounded skin, but not in differentiating keratinocytes or in normal skin. Detected in chronic wounds, basal cell carcinoma and ulcerative colitis.

Induction. In keratinocytes, by wounding or contact with collagen.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the epsin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H201-1	1	yes
Q9H201-2	2

RefSeq proteins (1): NP_060427* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003903	UIM_dom	Conserved_site
IPR008942	ENTH_VHS	Homologous_superfamily
IPR013809	ENTH	Domain

Pfam: PF01417, PF02809

UniProt features (37 total): repeat 8, region of interest 7, binding site 6, domain 3, compositionally biased region 3, modified residue 3, sequence conflict 3, splice variant 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H201-F1	61.01	0.25

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (6): 8; 11; 25; 30; 63; 73

Post-translational modifications (3): 191, 192, 264

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 144 (showing top): TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, CAGCTG_AP4_Q5, ONDER_CDH1_TARGETS_3_DN, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, GOCC_COATED_VESICLE, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, ARGGGTTAA_UNKNOWN, TGANTCA_AP1_C, GOCC_VESICLE_COAT, AACTTT_UNKNOWN, RYTTCCTG_ETS2_B, P300_01, KEGG_ENDOCYTOSIS, CCCNNGGGAR_OLF1_01

GO Biological Process (1): endocytosis (GO:0006897)

GO Molecular Function (5): phospholipid binding (GO:0005543), clathrin binding (GO:0030276), EH domain binding (GO:1990175), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (12): nucleus (GO:0005634), nucleoplasm (GO:0005654), endosome (GO:0005768), plasma membrane (GO:0005886), clathrin-coated pit (GO:0005905), cytoplasmic side of plasma membrane (GO:0009898), clathrin vesicle coat (GO:0030125), clathrin-coated vesicle (GO:0030136), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
endomembrane system	2
membrane	2
cytoplasm	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
lipid binding	1
protein binding	1
protein domain specific binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasmic vesicle	1
cell periphery	1
plasma membrane	1
cytoplasmic side of membrane	1
clathrin coat	1
vesicle coat	1
clathrin-coated vesicle membrane	1
coated vesicle	1
extracellular vesicle	1
intracellular anatomical structure	1
intracellular vesicle	1

Protein interactions and networks

STRING

1261 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EPN3	EPS15	P42566	995
EPN3	SNAP91	O60641	979
EPN3	ITSN1	Q15811	968
EPN3	ITSN2	Q9NZM3	957
EPN3	HIP1R	O75146	954
EPN3	CLTC	Q00610	935
EPN3	CLTCL1	P53675	932
EPN3	AMPH	P49418	872
EPN3	PICALM	Q13492	870
EPN3	BIN1	O00499	836
EPN3	FCHO1	O14526	818
EPN3	AP2B1	P21851	801
EPN3	EPS15L1	Q9UBC2	795
EPN3	CLTB	P09497	790
EPN3	SYNJ1	O43426	787

IntAct

15 interactions, top by confidence:

A	B	Type	Score
YWHAE	RGS12	psi-mi:“MI:0914”(association)	0.610
YWHAE	SRSF10	psi-mi:“MI:0914”(association)	0.560
EPN3	HSP90B1	psi-mi:“MI:0915”(physical association)	0.400
RNF11	EPN3	psi-mi:“MI:0915”(physical association)	0.370
EPN3	LAPTM5	psi-mi:“MI:0915”(physical association)	0.370
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
RTCB	MCRIP1	psi-mi:“MI:0914”(association)	0.350
EPN3	MID1	psi-mi:“MI:0914”(association)	0.350
ZC3H10	GTPBP10	psi-mi:“MI:0914”(association)	0.350
PAAT	HIP1	psi-mi:“MI:0914”(association)	0.350
RBM47	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
EPN3	PHGDH	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (100): EPN3 (Affinity Capture-Western), UBB (Affinity Capture-MS), VPS39 (Affinity Capture-MS), HSPA1L (Affinity Capture-MS), EPN2 (Affinity Capture-MS), EPN1 (Affinity Capture-MS), TNKS2 (Affinity Capture-MS), TNKS (Affinity Capture-MS), PHGDH (Affinity Capture-MS), MID2 (Affinity Capture-MS), MID1 (Affinity Capture-MS), TRIM32 (Affinity Capture-MS), SMURF1 (Affinity Capture-MS), KCTD10 (Affinity Capture-MS), CDC27 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RR37, A1L170, A1L1I3, A1L260, A2AMM0, A4IFJ0, B5G1P1, D3ZQL6, E7F5E1, G5BQH4, O08919, O54724, O60237, O75420, P06759, P33622, P53814, P85125, Q2KI85, Q2TAL5, Q3T044, Q3UMT1, Q4RTJ5, Q4V882, Q5I1X5, Q5U2R6, Q63312, Q6NZI2, Q75AS0, Q80VC9, Q8BG95, Q8BGT6, Q8C0J6, Q8CI12, Q8IV56, Q8K382, Q8N3F8, Q8TEH3, Q8WUF5, Q91VJ2

Diamond homologs: A7Z035, O74423, O88339, O95208, P47160, P78813, Q05785, Q12518, Q14677, Q4V882, Q54EH1, Q67YI9, Q80VP1, Q8CHU3, Q8IYW4, Q8VY07, Q91W69, Q93YP4, Q99KN9, Q9H201, Q9Y6I3, Q9Z1Z3, Q07872

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

157 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	141
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1470 predictions. Top by Δscore:

Variant	Effect	Δscore
17:50537115:AACT:A	donor_gain	1.0000
17:50537116:ACT:A	donor_gain	1.0000
17:50537117:CT:C	donor_gain	1.0000
17:50537117:CTG:C	donor_loss	1.0000
17:50537119:G:GG	donor_gain	1.0000
17:50537120:T:G	donor_loss	1.0000
17:50537121:GA:G	donor_gain	1.0000
17:50537123:G:GG	donor_gain	1.0000
17:50538077:A:AG	acceptor_gain	1.0000
17:50538078:G:GA	acceptor_gain	1.0000
17:50538102:A:AG	acceptor_gain	1.0000
17:50538194:GAAG:G	donor_gain	1.0000
17:50538195:AAGG:A	donor_loss	1.0000
17:50538882:A:AG	acceptor_gain	1.0000
17:50538883:G:GG	acceptor_gain	1.0000
17:50538883:GCCT:G	acceptor_gain	1.0000
17:50539182:TGCAG:T	acceptor_loss	1.0000
17:50539183:GCA:G	acceptor_loss	1.0000
17:50539184:CAG:C	acceptor_loss	1.0000
17:50539185:A:AG	acceptor_gain	1.0000
17:50539185:AG:A	acceptor_gain	1.0000
17:50539185:AGGAG:A	acceptor_gain	1.0000
17:50539186:G:GG	acceptor_gain	1.0000
17:50539186:G:T	acceptor_loss	1.0000
17:50539186:GG:G	acceptor_gain	1.0000
17:50539186:GGA:G	acceptor_gain	1.0000
17:50539186:GGAGG:G	acceptor_gain	1.0000
17:50539311:GCCAG:G	donor_gain	1.0000
17:50539312:CCAGG:C	donor_loss	1.0000
17:50539313:CAGG:C	donor_loss	1.0000

AlphaMissense

4055 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:50536635:G:C	A27P	1.000
17:50536767:T:A	W71R	1.000
17:50536767:T:C	W71R	1.000
17:50536784:G:C	K76N	1.000
17:50536784:G:T	K76N	1.000
17:50538157:T:C	L214P	1.000
17:50538163:T:C	L216P	1.000
17:50536629:C:A	R25S	0.999
17:50536630:G:C	R25P	0.999
17:50536636:C:A	A27D	0.999
17:50536653:T:A	W33R	0.999
17:50536653:T:C	W33R	0.999
17:50536655:G:C	W33C	0.999
17:50536655:G:T	W33C	0.999
17:50536686:G:C	A44P	0.999
17:50536769:G:C	W71C	0.999
17:50536769:G:T	W71C	0.999
17:50536782:A:C	K76Q	0.999
17:50536782:A:G	K76E	0.999
17:50536785:G:C	A77P	0.999
17:50536789:T:C	L78P	0.999
17:50536795:T:G	L80W	0.999
17:50536807:T:C	L84P	0.999
17:50536914:G:C	G120R	0.999
17:50536915:G:A	G120D	0.999
17:50536927:G:C	R124P	0.999
17:50538151:T:C	L212P	0.999
17:50538165:G:C	A217P	0.999
17:50538169:T:C	L218P	0.999
17:50536592:C:A	N12K	0.998

dbSNP variants (sampled 300 via entrez): RS1000045732 (17:50542894 C>T), RS1000053970 (17:50543628 C>T), RS1000111981 (17:50537898 T>C), RS1000403921 (17:50543974 C>T), RS1000889614 (17:50542410 T>G), RS1000897065 (17:50538085 C>A,G,T), RS1000964927 (17:50533487 G>A), RS1001073477 (17:50532628 T>C), RS1001303235 (17:50532908 C>G), RS1001476218 (17:50533733 T>C), RS1001798073 (17:50541419 G>A), RS1001842707 (17:50543014 G>C), RS1002228068 (17:50543255 C>G,T), RS1002239869 (17:50537555 A>T), RS1002315424 (17:50533384 G>A)

Disease associations

OMIM: gene MIM:607264 | disease phenotypes: MIM:226600

GenCC curated gene-disease

Mondo (1): recessive dystrophic epidermolysis bullosa (MONDO:0009179)

Orphanet (2): Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form (Orphanet:79408), Recessive dystrophic epidermolysis bullosa inversa (Orphanet:79409)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90020026_458	Hip index	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	3
mercuric bromide	increases expression, affects cotreatment	2
Resveratrol	affects cotreatment, decreases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	increases methylation, affects methylation, decreases methylation, increases expression	2
Carbamazepine	affects expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	decreases expression, increases expression	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
propionaldehyde	increases expression	1
trichostatin A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
corosolic acid	decreases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
clothianidin	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Oxaliplatin	increases expression	1
Sunitinib	decreases expression	1
Panobinostat	affects cotreatment, increases expression	1
Microplastics	decreases expression, increases abundance	1
Arsenic	decreases expression, increases abundance, increases expression, affects cotreatment	1
Cannabidiol	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Copper	affects cotreatment, decreases expression	1
Diclofenac	affects expression	1

Clinical trials (associated diseases)

27 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04213261	PHASE3	ACTIVE_NOT_RECRUITING	A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa
NCT04227106	PHASE3	COMPLETED	Phase 3, Open-label Clinical Trial of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB)
NCT04491604	PHASE3	COMPLETED	Ph 3 Efficacy and Safety of B-VEC for the Treatment of DEB
NCT04917874	PHASE3	COMPLETED	A Long-term Treatment With B-VEC for Dystrophic Epidermolysis Bullosa
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
NCT07016750	PHASE3	RECRUITING	A Study Comparing KB803 and Matched Placebo in Patients With Dystrophic Epidermolysis Bullosa
NCT04599881	PHASE2	COMPLETED	A Study of PTR-01 in Recessive Dystrophic Epidermolysis Bullosa
NCT05143190	PHASE2	COMPLETED	Extension Study to PTR-01-002 (A Study in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Patients Previously Treated With PTR-01)
NCT02493816	PHASE1	COMPLETED	Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa
NCT06713434	PHASE1	ACTIVE_NOT_RECRUITING	Pilot Study of ELK-003 Eye Drops for Treating Ocular Manifestations of Epidermolysis Bullosa
NCT02323789	PHASE1/PHASE2	UNKNOWN	Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa
NCT02698735	PHASE1/PHASE2	COMPLETED	Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients
NCT02984085	PHASE1/PHASE2	TERMINATED	Clinical Trial to Assess Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified in Patients With RDEB.
NCT03012191	PHASE1/PHASE2	COMPLETED	Gentamicin for RDEB
NCT03392909	PHASE1/PHASE2	UNKNOWN	Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB)
NCT03529877	PHASE1/PHASE2	COMPLETED	Allogeneic ABCB5-positive Stem Cells for Treatment of Epidermolysis Bullosa
NCT03752905	PHASE1/PHASE2	COMPLETED	A Phase 1/2 Trial of PTR-01 in Adult Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)
NCT04520022	PHASE1/PHASE2	COMPLETED	Safety and Effectiveness Study of Allogeneic Umbilical Cord Blood-derived Mesenchymal Stem Cell in Patients With RDEB
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)
NCT07193134	PHASE1/PHASE2	RECRUITING	GMEB-SASS: A Gene-Modified Skin Substitute for RDEB Treatment
NCT04177498	EARLY_PHASE1	COMPLETED	Rigosertib in Patients With Recessive Dystrophic Epidermolysis Bullosa Associated SCC
NCT01874769	Not specified	COMPLETED	Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)
NCT04285294	Not specified	UNKNOWN	Molecular Signatures of Cutaneous Squamous Cell Carcinoma During Recessive Dystrophic Epidermolysis Bullosa
NCT04917887	Not specified	RECRUITING	Long-Term Follow-up Protocol
NCT05708677	Not specified	ENROLLING_BY_INVITATION	A Long-Term Extension Study for Participants Previously Treated With EB-101 for the Treatment of RDEB
NCT05944250	Not specified	COMPLETED	A Pilot Study to Evaluate a Temporary Skin Substitute (Spincare® Matrix) for Wound Healing in RDEB Patients