Recessive dystrophic epidermolysis bullosa

Summary

Recessive dystrophic epidermolysis bullosa (MONDO:0009179) is a disease caused by COL7A1 (GenCC Definitive), with 3 cohort genes and 27 clinical trials. Top therapeutic interventions include gentamicin, beremagene geperpavec, and efgartigimod alfa.

At a glance

• Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
• Causal gene: COL7A1 (GenCC Definitive)
• Cohort genes: 3
• ClinVar variants: 488
• Phenotypes (HPO): 58
• Clinical trials: 27

Clinical features

Epidemiology

Prevalence records

4 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 1 000 000	0.963	Europe	Validated
Prevalence at birth	1-9 / 100 000	1.3	Europe	Validated
Point prevalence	1-9 / 1 000 000	0.2222	United States	Validated
Prevalence at birth	1-9 / 1 000 000	0.3	United States	Validated

Signs & symptoms

Clinical features (HPO)

58 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0000670	Carious teeth	Very frequent (80-99%)
HP:0001030	Fragile skin	Very frequent (80-99%)
HP:0001056	Milia	Very frequent (80-99%)
HP:0001075	Atrophic scars	Very frequent (80-99%)
HP:0001371	Flexion contracture	Very frequent (80-99%)
HP:0001510	Growth delay	Very frequent (80-99%)
HP:0001903	Anemia	Very frequent (80-99%)
HP:0004057	Mitten deformity	Very frequent (80-99%)
HP:0004386	Gastrointestinal inflammation	Very frequent (80-99%)
HP:0008066	Abnormal blistering of the skin	Very frequent (80-99%)
HP:0012532	Chronic pain	Very frequent (80-99%)
HP:0200097	Oral mucosal blisters	Very frequent (80-99%)
HP:0000478	Abnormality of the eye	Frequent (30-79%)
HP:0000716	Depression	Frequent (30-79%)
HP:0000739	Anxiety	Frequent (30-79%)
HP:0001798	Anonychia	Frequent (30-79%)
HP:0001891	Iron deficiency anemia	Frequent (30-79%)
HP:0001965	Abnormality of the scalp	Frequent (30-79%)
HP:0002860	Squamous cell carcinoma	Frequent (30-79%)
HP:0008404	Nail dystrophy	Frequent (30-79%)
HP:0011354	Generalized abnormality of skin	Frequent (30-79%)
HP:0031446	Erosion of oral mucosa	Frequent (30-79%)
HP:0032676	Chronic cutaneous wound	Frequent (30-79%)
HP:0000083	Renal insufficiency	Occasional (5-29%)
HP:0000099	Glomerulonephritis	Occasional (5-29%)
HP:0000160	Narrow mouth	Occasional (5-29%)
HP:0000572	Visual loss	Occasional (5-29%)
HP:0000794	IgA deposition in the glomerulus	Occasional (5-29%)
HP:0000823	Delayed puberty	Occasional (5-29%)
HP:0000938	Osteopenia	Occasional (5-29%)
HP:0000939	Osteoporosis	Occasional (5-29%)
HP:0001057	Aplasia cutis congenita	Occasional (5-29%)
HP:0001581	Recurrent skin infections	Occasional (5-29%)
HP:0001644	Dilated cardiomyopathy	Occasional (5-29%)
HP:0001917	Renal amyloidosis	Occasional (5-29%)
HP:0002015	Dysphagia	Occasional (5-29%)
HP:0002020	Gastroesophageal reflux	Occasional (5-29%)
HP:0002839	Urinary bladder sphincter dysfunction	Occasional (5-29%)
HP:0004395	Malnutrition	Occasional (5-29%)
HP:0004791	Esophageal ulceration	Occasional (5-29%)
HP:0008366	Foot joint contracture	Occasional (5-29%)
HP:0010296	Ankyloglossia	Occasional (5-29%)
HP:0011936	Decreased plasma total carnitine	Occasional (5-29%)
HP:0012056	Cutaneous melanoma	Occasional (5-29%)
HP:0012227	Urethral stricture	Occasional (5-29%)
HP:0012390	Anal fissure	Occasional (5-29%)
HP:0012622	Chronic kidney disease	Occasional (5-29%)
HP:0031831	Decreased serum zinc	Occasional (5-29%)
HP:0031903	Abnormal circulating selenium concentration	Occasional (5-29%)
HP:0100508	Abnormality of vitamin metabolism	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	recessive dystrophic epidermolysis bullosa
Mondo ID	MONDO:0009179
OMIM	226600
Orphanet	79408
DOID	DOID:0060642
SNOMED CT	48528004
UMLS	C0079474
MedGen	36311
GARD	0006308
Is cancer (heuristic)	no

Also known as: autosomal recessive dystrophic epidermolysis bullosa generalisata gravis · autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type · autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) · EBD inversa · epidermolysis bullosa dystrophica, AR · epidermolysis bullosa dystrophica, autosomal recessive · epidermolysis bullosa dystrophica, autosomal recessive, modifier of · epidermolysis bullosa dystrophica, generalised severe, autosomal recessive · RDEB · RDEB generalisata gravis · RDEB, Hallopeau-Siemens type · RDEB, severe generalised · RDEB, severe generalized · RDEB-sev gen · recessive dystrophic epidermolysis bullosa, severe generalised · recessive dystrophic epidermolysis bullosa, severe generalized · severe generalised RDEB · severe generalised recessive dystrophic epidermolysis bullosa

Data availability: 488 ClinVar variants · 6 GenCC gene-disease records · 7 cell lines.

Disease family

An umbrella term covering 1 Mondo subtype.

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 dystrophica › recessive dystrophic epidermolysis bullosa

Related subtypes (11): transient bullous dermolysis of the newborn, generalized dominant dystrophic epidermolysis bullosa, pretibial dystrophic epidermolysis bullosa, epidermolysis bullosa dystrophica Neurotrophica, dystrophic epidermolysis bullosa pruriginosa, acral dystrophic epidermolysis bullosa, dystrophic epidermolysis bullosa, nails only, centripetalis recessive dystrophic epidermolysis bullosa, recessive dystrophic epidermolysis bullosa-generalized other, localized dystrophic epidermolysis bullosa, epidermolysis bullosa dystrophica with subcorneal cleavage

Subtypes (1): recessive dystrophic epidermolysis bullosa inversa

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

488 retrieved; paginated sample, class counts are floors:

141 pathogenic, 105 likely pathogenic, 89 pathogenic/likely pathogenic, 84 conflicting classifications of pathogenicity, 56 uncertain significance, 7 benign/likely benign, 5 likely benign, 1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1064715	LRG_286t1:c.[520G>A];[2711-4_2711-1delCCAG]		Pathogenic	no assertion criteria provided
1032184	NM_000094.4(COL7A1):c.2587+1G>A	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1032188	NM_000094.4(COL7A1):c.8304+1G>A	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1047934	NM_000094.4(COL7A1):c.58_70del (p.Arg20fs)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1047937	NM_000094.4(COL7A1):c.5532+1G>T	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1047951	NM_000094.4(COL7A1):c.8209G>C (p.Gly2737Arg)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1047970	NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1047976	NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1047980	NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1048001	NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1048003	NM_000094.4(COL7A1):c.3130C>T (p.Gln1044Ter)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1048010	NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1048020	NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1048022	NM_000094.4(COL7A1):c.7104+5G>A	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1048023	NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1048040	NM_000094.4(COL7A1):c.5287C>T (p.Arg1763Ter)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1048045	NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1048049	NM_000094.4(COL7A1):c.7380+2T>C	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1048050	NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1048054	NM_000094.4(COL7A1):c.7738C>T (p.Arg2580Cys)	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1064713	NM_000094.4(COL7A1):c.520G>A (p.Gly174Arg)	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1066186	NM_000094.4(COL7A1):c.8020G>C (p.Gly2674Arg)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1068913	NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser)	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1069041	NM_000094.4(COL7A1):c.6508C>T (p.Gln2170Ter)	COL7A1	Pathogenic	criteria provided, single submitter
1070885	NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter)	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072343	NM_000094.4(COL7A1):c.3830del (p.Pro1277fs)	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1073113	NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=)	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1073114	NM_000094.4(COL7A1):c.4783-1G>A	COL7A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1074690	NM_000094.4(COL7A1):c.6501+1G>C	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1075255	NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)	COL7A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 26 · Orphanet: 10 · 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
COL7A1	Definitive	Autosomal recessive	recessive dystrophic epidermolysis bullosa	26

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
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
MMP1	Orphanet:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
COL7A1	HGNC:2214	ENSG00000114270	Q02388	Collagen alpha-1(VII) chain	gencc,clinvar
EPN3	HGNC:18235	ENSG00000049283	Q9H201	Epsin-3	clinvar
MMP1	HGNC:7155	ENSG00000196611	P03956	Interstitial collagenase	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
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…
MMP1	Interstitial collagenase	Cleaves collagens of types I, II, and III at one site in the helical domain.

Protein-family classification

Druggable: 2 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.67

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
Protease	1	12.2×	0.149
Antibody/Immunoglobulin	1	9.7×	0.149
Other/Unknown	1	0.6×	0.914

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
COL7A1	Antibody/Immunoglobulin	yes		VWF_A, Kunitz_BPTI, FN3_dom
EPN3	Other/Unknown	no		UIM_dom, ENTH_VHS, ENTH
MMP1	Protease	yes	3.4.24.7	Hemopexin-like_dom, Pept_M10_metallopeptidase, Peptidoglycan-bd-like

Expression context

Cohort genes with no expression data: 0.

3 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)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
skin of abdomen	1
skin of leg	1
stromal cell of endometrium	1
apex of heart	1
esophagus mucosa	1
lower esophagus mucosa	1
epithelial cell of pancreas	1
islet of Langerhans	1
pancreatic ductal cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
COL7A1	267	ubiquitous	marker	stromal cell of endometrium, skin of abdomen, skin of leg
EPN3	132	broad	marker	lower esophagus mucosa, esophagus mucosa, apex of heart
MMP1	172	broad	marker	epithelial cell of pancreas, pancreatic ductal cell, islet of Langerhans

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MMP1	2,933
COL7A1	1,767
EPN3	1,376

Intra-cohort edges

A	B	Sources
COL7A1	MMP1	string_interaction

Structural data

PDB: 1 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MMP1	P03956	15

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
EPN3	Q9H201	61.01
COL7A1	Q02388

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 22. Enrichment computed across 3 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Collagen degradation	2	175.7×	7e-04	COL7A1, MMP1
Anchoring fibril formation	1	380.7×	0.020	COL7A1
Fibronectin matrix formation	1	285.5×	0.020	COL7A1
Basigin interactions	1	219.6×	0.020	MMP1
Laminin interactions	1	190.3×	0.020	COL7A1
Cargo concentration in the ER	1	167.9×	0.020	COL7A1
Activation of Matrix Metalloproteinases	1	154.3×	0.020	MMP1
Collagen chain trimerization	1	129.8×	0.021	COL7A1
Assembly of collagen fibrils and other multimeric structures	1	100.2×	0.024	COL7A1
Collagen biosynthesis and modifying enzymes	1	85.2×	0.024	COL7A1
COPII-mediated vesicle transport	1	81.6×	0.024	COL7A1
Integrin cell surface interactions	1	67.2×	0.027	COL7A1
Degradation of the extracellular matrix	1	58.9×	0.029	MMP1
Interleukin-4 and Interleukin-13 signaling	1	51.4×	0.030	MMP1
Cell surface interactions at the vascular wall	1	47.6×	0.031	MMP1
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	1	43.3×	0.032	MMP1
Signaling by Interleukins	1	32.1×	0.038	MMP1
Extracellular matrix organization	1	31.6×	0.038	MMP1
Cytokine Signaling in Immune system	1	20.4×	0.056	MMP1
Hemostasis	1	18.0×	0.060	MMP1
Immune System	1	6.5×	0.155	MMP1
Metabolism of proteins	1	6.2×	0.155	MMP1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
cellular response to UV-A	1	468.1×	0.018	MMP1
endodermal cell differentiation	1	165.2×	0.018	COL7A1
collagen catabolic process	1	130.6×	0.018	MMP1
extracellular matrix disassembly	1	122.1×	0.018	MMP1
positive regulation of protein-containing complex assembly	1	112.3×	0.018	MMP1
epidermis development	1	70.2×	0.024	COL7A1
extracellular matrix organization	1	40.7×	0.035	MMP1
endocytosis	1	31.7×	0.039	EPN3
cell adhesion	1	12.5×	0.085	COL7A1
proteolysis	1	11.4×	0.085	MMP1

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 2

Druggability breadth: 2 of 3 evidence-associated genes (67%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
MMP1	TILUDRONATE DISODIUM

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MMP1	21	4
COL7A1	0	0
EPN3	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
TILUDRONATE DISODIUM	4	MMP1
PRAZOSIN	4	MMP1
SULFASALAZINE	4	MMP1
IRINOTECAN	4	MMP1
NIMESULIDE	4	MMP1
DOXAZOSIN	4	MMP1
CAFFEIC ACID	3	MMP1
MARIMASTAT	3	MMP1
EPIGALOCATECHIN GALLATE	3	MMP1
QUERCETIN	3	MMP1
PRINOMASTAT	3	MMP1
CIPEMASTAT	2	MMP1
ILOMASTAT	2	MMP1
APRATASTAT	2	MMP1
SOLIMASTAT	2	MMP1
TANOMASTAT	2	MMP1
BATIMASTAT	2	MMP1
(+)-SECOISOLARICIRESINOL	2	MMP1
CTS-1027	2	MMP1
REBIMASTAT	2	MMP1
AMINOQUINURIDE	2	MMP1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
MMP1	588	Binding:574, ADMET:10, Functional:3, Toxicity:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
MMP1	3.4.24.7	interstitial collagenase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
MMP1	588

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

21 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.

Compound	Max phase	Cohort target (bioactivity)
TILUDRONATE DISODIUM	4	MMP1
PRAZOSIN	4	MMP1
SULFASALAZINE	4	MMP1
IRINOTECAN	4	MMP1
NIMESULIDE	4	MMP1
DOXAZOSIN	4	MMP1
CAFFEIC ACID	3	MMP1
MARIMASTAT	3	MMP1
EPIGALOCATECHIN GALLATE	3	MMP1
QUERCETIN	3	MMP1
PRINOMASTAT	3	MMP1
CIPEMASTAT	2	MMP1
ILOMASTAT	2	MMP1
APRATASTAT	2	MMP1
SOLIMASTAT	2	MMP1
TANOMASTAT	2	MMP1
BATIMASTAT	2	MMP1
(+)-SECOISOLARICIRESINOL	2	MMP1
CTS-1027	2	MMP1
REBIMASTAT	2	MMP1
AMINOQUINURIDE	2	MMP1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	MMP1
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	COL7A1
E	Difficult family or no structure, no drug	1	EPN3

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
COL7A1	0	—
EPN3	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 27.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1/PHASE2	11
PHASE3	6
Not specified	5
PHASE2	2
PHASE1	2
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04213261	PHASE3	ACTIVE_NOT_RECRUITING	A Study of FCX-007 for Recessive 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
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
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
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
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)
NCT06713434	PHASE1	ACTIVE_NOT_RECRUITING	Pilot Study of ELK-003 Eye Drops for Treating Ocular Manifestations of Epidermolysis Bullosa
NCT02493816	PHASE1	COMPLETED	Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa
NCT04177498	EARLY_PHASE1	COMPLETED	Rigosertib in Patients With Recessive Dystrophic Epidermolysis Bullosa Associated SCC
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
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
NCT05944250	Not specified	COMPLETED	A Pilot Study to Evaluate a Temporary Skin Substitute (Spincare® Matrix) for Wound Healing in RDEB Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
GENTAMICIN	4	3
BEREMAGENE GEPERPAVEC	4	1
EFGARTIGIMOD ALFA	4	1
SODIUM CHLORIDE	4	1
PRADEMAGENE ZAMIKERACEL	3	2
RIGOSERTIB SODIUM	3	1
GENTAMICIN C1A	0	3
CHEMBL195892	0	2
CHEMBL3039597	0	2
GENTAMICIN C2	0	2