Peyronie disease

Summary

Peyronie disease (MONDO:0008231) is a disease with 22 GWAS associations across 6 studies and 40 clinical trials. Top therapeutic interventions include collagenase clostridium histolyticum, sildenafil, and testosterone undecanoate. A subtype of penile neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 22
• Clinical trials: 40

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Peyronie disease
Mondo ID	MONDO:0008231
OMIM	171000
Orphanet	2870
DOID	DOID:8616
ICD-10-CM	N48.6
NCIT	C3316
UMLS	C0030848
MedGen	10629
Anatomy (UBERON)	UBERON:0000989
Is cancer (heuristic)	no

Also known as: penile fibromatosis · penile induration · penis fibromatosis · Peyronie disease · Peyronie’s disease · Peyronie’s fibromatosis

Data availability: 22 GWAS associations (6 studies).

Disease family

This is a subtype of penile neoplasm. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › male reproductive system disorder › penile disorder › penile neoplasm › Peyronie disease

Related subtypes (2): penile cancer, benign neoplasm of penis

Genetics & variants

GWAS landscape

22 GWAS associations across 6 studies. Top hits map to 8 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs12706146	6e-40	MTCYBP6 - WNT2	C	0.41
rs10226248	1e-37	MTCYBP6 - WNT2	G	0.42
rs28971325	3e-26	WNT7B	G	0.32
rs528539364	9e-14	FOXP1	C	2.54
rs6054308	3e-13	CASC20	A	0.21
rs143888834	4e-13	PREP - LINC02836	T	2.39
rs1040551	5e-13	RN7SL636P - COX6CP2	G	0.19
chr10:5042294	3e-12		T	0.36
rs556089591	4e-12	GLT6D1	C	3.36
rs530928701	6e-12	ST13P7 - EXOC4	C	3.29
rs370193349	9e-12	MKRN1 - DENND2A	G	3.1
chr20:49053450	1e-11		C	0.2
rs555372783	1e-11	SKIC8	T	2.74
rs550348651	2e-11	GRIK2 - R3HDM2P2	G	2.51
rs574927914	2e-11	ZFP90	G	2.49
rs1840496	2e-11	MTCO1P24 - CTBP2P4	T	0.18
rs1051993455	2e-11	CDNF	G	4.03
rs1239296705	2e-11	SPTLC2	C	3.15
chr8:71361622	3e-11		A	0.19
rs374153640	4e-11	LINC02947 - LINC02599	G	2.88

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476160	Verma A	2024	2,512	413,591	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90080629	Backman JD	2021	937	193,668	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084615	Backman JD	2021	937	193,668	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90480417	Verma A	2024	412	104,388	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482242	Verma A	2024	412	104,388	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482241	Verma A	2024	275	53,398	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	1
Tier 4: intronic/intergenic	19

MAF distribution

Bucket	Variants
common (>=0.05)	9
low_freq (0.01-0.05)	0
rare (<0.01)	11
unknown	0

Functional consequences

Consequence	Count
intron_variant	10
intergenic_variant	6
unknown	3
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs12706146	7	117270594	C>A,G,T	0.392	regulatory_region_variant	MTCYBP6 - WNT2	6e-40	Tier 3: regulatory
rs10226248	7	117271294	G>A	0.439	intergenic_variant	MTCYBP6 - WNT2	1e-37	Tier 4: intronic/intergenic
rs28971325	22	45971264	G>A	0.265	intron_variant	WNT7B	3e-26	Tier 4: intronic/intergenic
rs528539364	3	71265677	C>G,T	0.001	intron_variant	FOXP1	9e-14	Tier 4: intronic/intergenic
rs6054308	20	6492271	A>G	0.395	intron_variant	CASC20	3e-13	Tier 4: intronic/intergenic
rs143888834	6	105568129	T>C	0.001	intron_variant	PREP - LINC02836	4e-13	Tier 4: intronic/intergenic
rs1040551	20	50445396	G>T	0.46	intergenic_variant	RN7SL636P - COX6CP2	5e-13	Tier 4: intronic/intergenic
chr10:5042294				0.123			3e-12	Tier 4: intronic/intergenic
rs556089591	9	135628310	C>G,T	0	intron_variant	GLT6D1	4e-12	Tier 4: intronic/intergenic
rs530928701	7	133188824	C>G,T	0.001	intron_variant	ST13P7 - EXOC4	6e-12	Tier 4: intronic/intergenic
rs370193349	7	140516273	G>A,C	0.001	intron_variant	MKRN1 - DENND2A	9e-12	Tier 4: intronic/intergenic
chr20:49053450				0.395			1e-11	Tier 4: intronic/intergenic
rs555372783	15	78287176	T>C	0.001	intron_variant	SKIC8	1e-11	Tier 4: intronic/intergenic
rs550348651	6	103561492	G>A	0.001	intergenic_variant	GRIK2 - R3HDM2P2	2e-11	Tier 4: intronic/intergenic
rs574927914	16	68532013	G>A	0	intergenic_variant	ZFP90	2e-11	Tier 4: intronic/intergenic
rs1840496	5	98435836	T>A,C	0.475	intergenic_variant	MTCO1P24 - CTBP2P4	2e-11	Tier 4: intronic/intergenic
rs1051993455	10	14827881	G>C,T	0	intron_variant	CDNF	2e-11	Tier 4: intronic/intergenic
rs1239296705	14	77536378	C>T	0.001	intron_variant	SPTLC2	2e-11	Tier 4: intronic/intergenic
chr8:71361622				0.449			3e-11	Tier 4: intronic/intergenic
rs374153640	8	48535150	G>A,T	0	intergenic_variant	LINC02947 - LINC02599	4e-11	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 40.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	20
PHASE4	6
PHASE3	5
PHASE1	5
PHASE2	4

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04786106	PHASE4	ACTIVE_NOT_RECRUITING	Investigation of Surgery, Collagenase, and Restorex for the Improvement of Peyronie’s
NCT05108558	PHASE4	ACTIVE_NOT_RECRUITING	Efficacy of a Novel CCH Protocol for PD Among Prior Non-responders
NCT05777031	PHASE4	RECRUITING	Safety and Efficacy of Collagenase Clostridium Histolyticum After Prior Intralesional PRP for Peyronie’s Disease
NCT06649539	PHASE4	RECRUITING	Delayed Dose Collagenase Clostridium Histolyticum (CCH) Protocol for Men With Peyronie’s Disease
NCT03767452	PHASE4	UNKNOWN	Additional Xiaflex® Treatment in Patients With Peyronie’s Disease Recurrence, Worsening, or Incomplete Response
NCT03815331	PHASE4	COMPLETED	Xiaflex® Plus Testosterone Treatment Pilot Study Protocol
NCT01221597	PHASE3	COMPLETED	Study of AA4500 in the Treatment of Peyronie’s Disease
NCT01221623	PHASE3	COMPLETED	Study of AA4500 in the Treatment of Peyronie’s Disease
NCT01243411	PHASE3	COMPLETED	A Study of AA4500 in Men With Peyronie’s Disease
NCT01685437	PHASE3	COMPLETED	A Phase 3, Open-label Study of the Safety and Effectiveness of AA4500 Administered Twice Per Treatment Cycle for up to Four Treatment Cycles (2 x 4) in Men With Peyronie’s Disease
NCT02267460	PHASE3	COMPLETED	An Open-label Study to Assess the Safety and Effectiveness of AA4500 in Combination With the ErecAid® Esteem® Manual Vacuum Therapy System in Treating Men With Peyronie’s Disease
NCT00755222	PHASE2	COMPLETED	The Safety and Effectiveness of AA4500 in Subjects With Peyronie’s Disease
NCT00812838	PHASE2	COMPLETED	H-22411: BOTOX® for Peyronie’s Disease
NCT01430169	PHASE2	COMPLETED	Pharmacokinetics of a Single Treatment Cycle of AA4500 0.58 mg in Men With Peyronie’s Disease
NCT04512287	PHASE2	COMPLETED	PRP for Treatment of Peyronie’s Disease
NCT05147779	PHASE1	RECRUITING	Safety of Cultured Allogeneic Adult Umbilical Cord Stem Cells for Peyronie’s Disease, ED, and Interstitial Cystitis
NCT01578473	PHASE1	COMPLETED	Testosterone Pellets Plus Vitamin D and E Versus Vitamin D and E Alone for the Treatment of Peyronie’s Disease
NCT02072018	PHASE1	COMPLETED	Peyronie’s Disease Treatment Protocol
NCT02395029	PHASE1	COMPLETED	Evaluate the Safety and Feasibility of Injecting PMD-MSC Into the Penis to Treat the Symptoms of PD
NCT04771442	PHASE1	COMPLETED	Stem Cell Treatment of Peyronie´s Disease.
NCT06065436	Not specified	RECRUITING	Concurrent Low Intensity Shockwave Therapy on Collagenase Clostridium Histolyticum for Peyronie’s Disease
NCT06303661	Not specified	RECRUITING	Non-ablative Radiofrequency and Low Intensity Shock Wave Therapy in Fibrotic Plaque in Men With Peyronie’s Disease
NCT06621420	Not specified	ENROLLING_BY_INVITATION	Peyronie Disease Questionnaire (PDQ): Turkish Validation
NCT07010900	Not specified	RECRUITING	Platelet-Rich Plasma Injections From Cord Blood + Penile Traction vs. Penile Traction Alone in Patients With Peyronie’s Disease. Open-label, Single-center Randomized Study
NCT07317297	Not specified	RECRUITING	Extracorporeal Shockwave Therapy in the Treatment of Peyronie’s Disease
NCT07341529	Not specified	ACTIVE_NOT_RECRUITING	Pilot Study on the Efficacy and Safety of FIBRORESTIL® as an Adjuvant Intralesional Treatment in Patients With Peyronie’s Disease Receiving Standard Therapy
NCT07470528	Not specified	RECRUITING	Comparative Outcomes of Subtunical Microdissection and Grafting Versus Classical Plaque Incision and Grafting in Complex Peyronie’s Disease
NCT02298829	Not specified	COMPLETED	Long-term Safety, Curvature Deformity Characterization, and Immunogenicity Over Time in Subjects Previously Treated With AA4500 for Peyronies Disease
NCT03530540	Not specified	UNKNOWN	Low-Intensity Extracorporeal Shockwave Therapy and Vacuum Erectile Device as a Treatment for Peyronies Disease.
NCT03774264	Not specified	COMPLETED	Treatment Response to Xiaflex for Men With Peyronie’s Disease
NCT04052217	Not specified	COMPLETED	Does Size Matter: A Single Case Experimental Design of Limiting the Depth of Penetration During Intercourse
NCT04370652	Not specified	COMPLETED	Medical Treatment of Peyronie’s Disease With Collagenase Clostridium Histolyticum
NCT04821115	Not specified	COMPLETED	Safety and Efficacy of Low-intensity Shockwave Therapy for Peyronie’s Disease
NCT05316714	Not specified	UNKNOWN	Novel Nanofat Regenerative Surgical Technique for Peyronies’ Disease Treatment
NCT05480683	Not specified	COMPLETED	Pelvic CT with Agatston Calcium Score for Peyronie Disease
NCT05646602	Not specified	WITHDRAWN	Focused Shock Wave Therapy Outcomes in Peyronie’s Disease and Erectile Dysfunction
NCT05768867	Not specified	COMPLETED	French Translation and Validation of the PEYronie’s Disease QUESTionnaire
NCT05855070	Not specified	UNKNOWN	Intralesional Hyaluronic Acid and Verapamil Injection in Peyronie’s Disease
NCT05871177	Not specified	COMPLETED	Safety and Efficacy of Intralesional HiLow Hyaluronic Acid in the Treatment of Peyronie’s Disease (PD)
NCT05873595	Not specified	TERMINATED	Real-World Data Study to Understand Effectiveness of Treatments in Peyronie’s Disease

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
COLLAGENASE CLOSTRIDIUM HISTOLYTICUM	4	10
SILDENAFIL	4	3
TESTOSTERONE UNDECANOATE	4	1
VERAPAMIL	4	1
DEXVERAPAMIL	2	1
H-100	1	1