Leprosy

Summary

Leprosy (MONDO:0005124) is a disease (an umbrella term covering 6 Mondo subtypes) with 26 cohort genes (111 GWAS associations across 11 studies) and 43 clinical trials. The dominant Reactome pathway is NOD1/2 Signaling Pathway (3 cohort genes). Top therapeutic interventions include dapsone, amitriptyline, and prednisolone.

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Umbrella term: 6 Mondo subtypes
• Cohort genes: 26
• GWAS associations: 111
• Phenotypes (HPO): 47
• Clinical trials: 43

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 100 000	3.7	Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

47 HPO clinical features (Orphanet curated; top 47 by frequency):

HPO ID	Term	Frequency
HP:0009830	Peripheral neuropathy	Very frequent (80-99%)
HP:0000962	Hyperkeratosis	Frequent (30-79%)
HP:0000966	Hypohidrosis	Frequent (30-79%)
HP:0002231	Sparse body hair	Frequent (30-79%)
HP:0003202	Skeletal muscle atrophy	Frequent (30-79%)
HP:0003401	Paresthesia	Frequent (30-79%)
HP:0003489	Acute episodes of neuropathic symptoms	Frequent (30-79%)
HP:0006121	Acral ulceration	Frequent (30-79%)
HP:0010829	Impaired temperature sensition	Frequent (30-79%)
HP:0010835	Dissociated sensory loss	Frequent (30-79%)
HP:0012181	Entrapment neuropathy	Frequent (30-79%)
HP:0012332	Abnormal autonomic nervous system physiology	Frequent (30-79%)
HP:0012645	Enlarged peripheral nerve	Frequent (30-79%)
HP:0020073	Hypopigmented macule	Frequent (30-79%)
HP:0034102	Anti-sphingolipid antibody positivity	Frequent (30-79%)
HP:0200036	Skin nodule	Frequent (30-79%)
HP:0000421	Epistaxis	Occasional (5-29%)
HP:0001026	Penetrating foot ulcers	Occasional (5-29%)
HP:0001324	Muscle weakness	Occasional (5-29%)
HP:0001596	Alopecia	Occasional (5-29%)
HP:0002087	Abnormality of the upper respiratory tract	Occasional (5-29%)
HP:0002223	Absent eyebrow	Occasional (5-29%)
HP:0003376	Steppage gait	Occasional (5-29%)
HP:0007460	Autoamputation of digits	Occasional (5-29%)
HP:0009027	Foot dorsiflexor weakness	Occasional (5-29%)
HP:0010827	Abnormality of the seventh cranial nerve	Occasional (5-29%)
HP:0011334	Facial shape deformation	Occasional (5-29%)
HP:0011457	Loss of eyelashes	Occasional (5-29%)
HP:0011821	Abnormality of facial skeleton	Occasional (5-29%)
HP:0012155	Decreased corneal sensation	Occasional (5-29%)
HP:0012185	Constrictive median neuropathy	Occasional (5-29%)
HP:0012500	Verrucous papule	Occasional (5-29%)
HP:0012534	Dysesthesia	Occasional (5-29%)
HP:0012804	Corneal ulceration	Occasional (5-29%)
HP:0030003	Paralytic lagophthalmos	Occasional (5-29%)
HP:0030351	Urticarial plaque	Occasional (5-29%)
HP:0000501	Glaucoma	Very rare (<1-4%)
HP:0000554	Uveitis	Very rare (<1-4%)
HP:0000618	Blindness	Very rare (<1-4%)
HP:0000771	Gynecomastia	Very rare (<1-4%)
HP:0000834	Abnormality of the adrenal glands	Very rare (<1-4%)
HP:0001101	Iritis	Very rare (<1-4%)
HP:0001392	Abnormality of the liver	Very rare (<1-4%)
HP:0001743	Abnormality of the spleen	Very rare (<1-4%)
HP:0005561	Abnormality of bone marrow cell morphology	Very rare (<1-4%)
HP:0032404	Testicular mass	Very rare (<1-4%)
HP:0100583	Corneal perforation	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	leprosy
Mondo ID	MONDO:0005124
EFO	EFO:0001054
MeSH	D007918
Orphanet	548
DOID	DOID:1024
ICD-10-CM	A30
ICD-11	149072669
NCIT	C84824
SNOMED CT	81004002
UMLS	C0023343
MedGen	6049
GARD	0006886
MedDRA	10024229
NORD	1362
Is cancer (heuristic)	no

Also known as: Hansen disease · Hansen’s disease · Mycobacterium leprae caused disease or disorder · Mycobacterium leprae disease or disorder · Mycobacterium leprae infectious disease

Data availability: 111 GWAS associations (11 studies).

Disease family

An umbrella term covering 6 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of primarily extrinsic mechanism › infectious disease › bacterial infectious disease › primary bacterial infectious disease › leprosy

Related subtypes (36): Buruli ulcer disease, sennetsu fever, salmonellosis, pinta disease, chancroid, gonorrhea, anthrax infection, botulism, diphtheria, tetanus, bartonellosis, brucellosis, campylobacteriosis, glanders, granuloma inguinale, legionellosis, leptospirosis, listeriosis, Mycobacterium avium complex disease, ornithosis, rhinoscleroma, staphyloenterotoxemia, syphilis, cholera, ehrlichiosis, melioidosis, tuberculosis, tularemia, plague, Q fever, shigellosis, Lyme disease, relapsing fever, spirillary rat-bite fever, streptobacillary rat-bite fever, Borrelia miyamotoi disease

Subtypes (6): indeterminate leprosy, borderline leprosy, tuberculoid leprosy, lepromatous leprosy, multibacillary leprosy, paucibacillary leprosy

Genetics & variants

GWAS landscape

111 GWAS associations across 11 studies. Top hits map to 23 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs9271100	8e-95	HLA-DRB1 - HLA-DQA1	T	1.68
rs9567307	1e-93	LACC1 - NRAD1	T	1.58
rs10817678	6e-88	TNFSF15 - DELEC1	?
rs2270368	1e-67	SNX20	G	1.5
rs3764147	4e-54	LACC1	G	1.68
rs9271011	4e-50	HLA-DRB1 - HLA-DQA1	G	0.52
rs4366152	9e-42	TNFSF15	A	1.33
rs9302752	4e-40	SNX20 - NOD2	G	1.59
rs383592	2e-35	PARAIL	G	1.32
rs2024825	4e-33	C1orf141	A	1.59
rs602875	5e-27	HLA-DRB1 - HLA-DQA1	A	1.61
rs76886731	2e-23	IL1RL1, IL18R1	T	1.24
rs13220141	1e-22	RAB32 - ADGB-DT	A	1.27
rs160451	1e-21	PARAIL	C	1.28
rs6863015	2e-21	IL12B-AS1	C	1.25
rs6478108	3e-21	TNFSF15	A	1.37
rs56167332	2e-17	IL12B-AS1	?
rs42490	1e-16	PARAIL, RIPK2	G	1.32
rs3187964	8e-16	HLA-DQA1	C	1.67
rs77061563	6e-15	RMI2	C	1.19
rs2275606	4e-14	ADGB-DT	A	1.3
rs663743	9e-14	CCDC88B	A	1.24
rs40545	4e-13	RIPK2, PARAIL	?
rs114598080	9e-13	WASF5P	A	1.47
rs40457	1e-12	PARAIL	A	1.3
rs39761	1e-12	PARAIL, RIPK2	T	1.31
rs58600253	3e-12	ALDH7A1P4 - ADO	T	1.22
rs3762318	3e-11	C1orf141	A	1.45
rs10100465	3e-11	MED30 - EXT1	G	1.18
rs16948876	4e-11	LINC02168 - LINC02128	A	1.39

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST004009	Wang Z	2016	2,743	3,573	A large-scale genome-wide association and meta-analysis identified four novel susceptibility loci for leprosy.
GCST90103799	Jung S	2022	2,118	2,822	Identification of shared loci associated with both Crohn’s disease and leprosy in east Asians.
GCST010457	Gzara C	2020	1,749	0	Family-based genome-wide association study of leprosy in Vietnam.
GCST002772	Liu H	2015	1,548	2,150	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
GCST001292	Zhang F	2011	706	5,581	Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.
GCST000546	Zhang FR	2009	706	1,225	Genomewide association study of leprosy.
GCST90129401	Gilchrist JJ	2022	492	0	Genome-wide association study of leprosy in Malawi and Mali.
GCST90129399	Gilchrist JJ	2022	284	0	Genome-wide association study of leprosy in Malawi and Mali.
GCST90129400	Gilchrist JJ	2022	208	0	Genome-wide association study of leprosy in Malawi and Mali.
GCST90103739	Jung S	2022	0	0	Identification of shared loci associated with both Crohn’s disease and leprosy in east Asians.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	2
Tier 2: splice/UTR	2
Tier 3: regulatory	1
Tier 4: intronic/intergenic	45

MAF distribution

Bucket	Variants
common (>=0.05)	47
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	2

Functional consequences

Consequence	Count
intron_variant	22
intergenic_variant	18
missense_variant	2
5_prime_UTR_variant	2
non_coding_transcript_exon_variant	2
unknown	2
regulatory_region_variant	1
synonymous_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs9271100	6	32608701	T>A,C	0.217	intergenic_variant	HLA-DRB1 - HLA-DQA1	8e-95	Tier 4: intronic/intergenic
rs9567307	13	43897741	A>G	0.314	intron_variant	LACC1 - NRAD1	1e-93	Tier 4: intronic/intergenic
rs10817678	9	114817177	G>A	0.05	intron_variant	TNFSF15 - DELEC1	6e-88	Tier 4: intronic/intergenic
rs2270368	16	50680424	G>A,C	0.304	intron_variant	SNX20	1e-67	Tier 4: intronic/intergenic
rs3764147	13	43883789	A>G	0.31	missense_variant	LACC1	4e-54	Tier 1: coding
rs9271011	6	32606899	A>G	0.05	intergenic_variant	HLA-DRB1 - HLA-DQA1	4e-50	Tier 4: intronic/intergenic
rs4366152	9	114802595	T>A,C,G	0.483	intron_variant	TNFSF15	9e-42	Tier 4: intronic/intergenic
rs9302752	16	50685192	T>C	0.29	regulatory_region_variant	SNX20 - NOD2	4e-40	Tier 3: regulatory
rs383592	8	89792100	C>T	0.416	intergenic_variant	PARAIL	2e-35	Tier 4: intronic/intergenic
rs2024825	1	67132294	T>A,C,G	0.105	intron_variant	C1orf141	4e-33	Tier 4: intronic/intergenic
rs602875	6	32605852	A>G	0.32	intergenic_variant	HLA-DRB1 - HLA-DQA1	5e-27	Tier 4: intronic/intergenic
rs76886731	2	102328956	A>C,T	0.448	intron_variant	IL1RL1, IL18R1	2e-23	Tier 4: intronic/intergenic
rs13220141	6	146576497	A>T	0.209	intergenic_variant	RAB32 - ADGB-DT	1e-22	Tier 4: intronic/intergenic
rs160451	8	89650713	T>C,G	0.23	intron_variant	PARAIL	1e-21	Tier 4: intronic/intergenic
rs6863015	5	159416227	C>A,G,T	0.304	intergenic_variant	IL12B-AS1	2e-21	Tier 4: intronic/intergenic
rs6478108	9	114796423	C>G,T	0.46	intron_variant	TNFSF15	3e-21	Tier 4: intronic/intergenic
rs56167332	5	159400761	C>A,T	0.05	intergenic_variant	IL12B-AS1	2e-17	Tier 4: intronic/intergenic
rs42490	8	89766285	G>A	0.42	intron_variant	PARAIL, RIPK2	1e-16	Tier 4: intronic/intergenic
rs3187964	6	32637430	C>A,G,T	0.41	5_prime_UTR_variant	HLA-DQA1	8e-16	Tier 2: splice/UTR
rs77061563	16	11358685	C>G,T	0.383	intergenic_variant	RMI2	6e-15	Tier 4: intronic/intergenic
rs2275606	6	146597814	G>A	0.21	intron_variant	ADGB-DT	4e-14	Tier 4: intronic/intergenic
rs663743	11	64340263	G>A,T	0.156	5_prime_UTR_variant	CCDC88B	9e-14	Tier 2: splice/UTR
rs40545	8	89777483	A>G,T	0.05	intron_variant	RIPK2, PARAIL	4e-13	Tier 4: intronic/intergenic
rs114598080	6	31287665	G>A	0.1	non_coding_transcript_exon_variant	WASF5P	9e-13	Tier 4: intronic/intergenic
rs40457	8	89811459	A>G	0.28	intergenic_variant	PARAIL	1e-12	Tier 4: intronic/intergenic
rs39761	8	89760692	T>A,C	0.05	intron_variant	PARAIL, RIPK2	1e-12	Tier 4: intronic/intergenic
rs58600253	10	62748144	C>T	0.12	intron_variant	ALDH7A1P4 - ADO	3e-12	Tier 4: intronic/intergenic
rs3762318	1	67131436	G>A,C,T	0.1	intron_variant	C1orf141	3e-11	Tier 4: intronic/intergenic
rs10100465	8	117614040	G>A	0.29	intergenic_variant	MED30 - EXT1	3e-11	Tier 4: intronic/intergenic
rs16948876	16	50820507	G>A	0.041	intergenic_variant	LINC02168 - LINC02128	4e-11	Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 17 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TNFSF15	Orphanet:186	Primary biliary cholangitis
LRRK2	Orphanet:2828	Young-onset Parkinson disease
LRRK2	Orphanet:411602	Hereditary late-onset Parkinson disease
IL23R	Orphanet:117	Behçet disease
COX4I1	Orphanet:254905	Isolated cytochrome C oxidase deficiency
CTSB	Orphanet:50943	Keratolytic winter erythema
CYLD	Orphanet:211	Familial cylindromatosis
CYLD	Orphanet:867	Familial multiple trichoepithelioma
LACC1	Orphanet:85414	Systemic-onset juvenile idiopathic arthritis
BBS9	Orphanet:110	Bardet-Biedl syndrome
HLA-C	Orphanet:585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
HLA-DQA1	Orphanet:391490	Adult-onset myasthenia gravis
HLA-DQA1	Orphanet:930	Idiopathic achalasia
NOD2	Orphanet:90340	Blau syndrome
IL12B	Orphanet:319558	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
IL12B	Orphanet:3287	Takayasu arteritis
IL21R	Orphanet:357329	Combined immunodeficiency due to IL21R deficiency

Cohort genes → proteins

26 cohort genes, 26 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	26

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RIPK2	HGNC:10020	ENSG00000104312	O43353	Receptor-interacting serine/threonine-protein kinase 2	gwas
RPS6KA4	HGNC:10433	ENSG00000162302	O75676	Ribosomal protein S6 kinase alpha-4	gwas
SIGLEC5	HGNC:10874	ENSG00000105501	O15389	Sialic acid-binding Ig-like lectin 5	gwas
SYN2	HGNC:11495	ENSG00000157152	Q92777	Synapsin-2	gwas
TNFSF15	HGNC:11931	ENSG00000181634	O95150	Tumor necrosis factor ligand superfamily member 15	gwas
C6orf15	HGNC:13927	ENSG00000204542	Q6UXA7	Uncharacterized protein C6orf15	gwas
LRRK2	HGNC:18618	ENSG00000188906	Q5S007	Leucine-rich repeat serine/threonine-protein kinase 2	gwas
IL23R	HGNC:19100	ENSG00000162594	Q5VWK5	Interleukin-23 receptor	gwas
COX4I1	HGNC:2265	ENSG00000131143	P13073	Cytochrome c oxidase subunit 4 isoform 1, mitochondrial	gwas
MED30	HGNC:23032	ENSG00000164758	Q96HR3	Mediator of RNA polymerase II transcription subunit 30	gwas
DELEC1	HGNC:23658	ENSG00000173077	Q9P2X7	Deleted in esophageal cancer 1	gwas
CTSB	HGNC:2527	ENSG00000164733	P07858	Cathepsin B	gwas
CYLD	HGNC:2584	ENSG00000083799	Q9NQC7	Ubiquitin carboxyl-terminal hydrolase CYLD	gwas
CCDC88B	HGNC:26757	ENSG00000168071	A6NC98	Coiled-coil domain-containing protein 88B	gwas
LACC1	HGNC:26789	ENSG00000179630	Q8IV20	Purine nucleoside phosphorylase LACC1	gwas
BATF3	HGNC:28915	ENSG00000123685	Q9NR55	Basic leucine zipper transcriptional factor ATF-like 3	gwas
BBS9	HGNC:30000	ENSG00000122507	Q3SYG4	Protein PTHB1	gwas
HLA-C	HGNC:4933	ENSG00000204525	P10321	HLA class I histocompatibility antigen, C alpha chain	gwas
HLA-DQA1	HGNC:4942	ENSG00000196735	P01909	HLA class II histocompatibility antigen, DQ alpha 1 chain	gwas
NOD2	HGNC:5331	ENSG00000167207	Q9HC29	Nucleotide-binding oligomerization domain-containing protein 2	gwas
IL12B	HGNC:5970	ENSG00000113302	P29460	Interleukin-12 subunit beta	gwas
IL18R1	HGNC:5988	ENSG00000115604	Q13478	Interleukin-18 receptor 1	gwas
IL18RAP	HGNC:5989	ENSG00000115607	O95256	Interleukin-18 receptor accessory protein	gwas
IL21R	HGNC:6006	ENSG00000103522	Q9HBE5	Interleukin-21 receptor	gwas
IL4R	HGNC:6015	ENSG00000077238	P24394	Interleukin-4 receptor subunit alpha	gwas
RAB32	HGNC:9772	ENSG00000118508	Q13637	Ras-related protein Rab-32	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RIPK2	Receptor-interacting serine/threonine-protein kinase 2	Serine/threonine/tyrosine-protein kinase that plays an essential role in modulation of innate and adaptive immune responses.
RPS6KA4	Ribosomal protein S6 kinase alpha-4	Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factor RELA, and that contributes to gene activation…
SIGLEC5	Sialic acid-binding Ig-like lectin 5	Putative adhesion molecule that mediates sialic-acid dependent binding to cells.
SYN2	Synapsin-2	Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release.
TNFSF15	Tumor necrosis factor ligand superfamily member 15	Receptor for TNFRSF25 and TNFRSF6B.
LRRK2	Leucine-rich repeat serine/threonine-protein kinase 2	Serine/threonine-protein kinase which phosphorylates a broad range of proteins involved in multiple processes such as neuronal plasticity, innate immunity, autophagy, and vesicle trafficking.
IL23R	Interleukin-23 receptor	Associates with IL12RB1 to form the interleukin-23 receptor.
COX4I1	Cytochrome c oxidase subunit 4 isoform 1, mitochondrial	Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation.
MED30	Mediator of RNA polymerase II transcription subunit 30	Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes.
DELEC1	Deleted in esophageal cancer 1	Candidate tumor suppressor.
CTSB	Cathepsin B	Thiol protease which is believed to participate in intracellular degradation and turnover of proteins.
CYLD	Ubiquitin carboxyl-terminal hydrolase CYLD	Deubiquitinase that specifically cleaves ‘Lys-63’- and linear ‘Met-1’-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-induced necroptosis.
CCDC88B	Coiled-coil domain-containing protein 88B	Acts as a positive regulator of T-cell maturation and inflammatory function.
LACC1	Purine nucleoside phosphorylase LACC1	Purine nucleoside enzyme that catalyzes the phosphorolysis of adenosine, guanosine and inosine nucleosides, yielding D-ribose 1-phosphate and the respective free bases, adenine, guanine and hypoxanthine.
BATF3	Basic leucine zipper transcriptional factor ATF-like 3	AP-1 family transcription factor that controls the differentiation of CD8(+) thymic conventional dendritic cells in the immune system.
BBS9	Protein PTHB1	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.
HLA-C	HLA class I histocompatibility antigen, C alpha chain	Antigen-presenting major histocompatibility complex class I (MHCI) molecule with an important role in reproduction and antiviral immunity.
HLA-DQA1	HLA class II histocompatibility antigen, DQ alpha 1 chain	Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells.
NOD2	Nucleotide-binding oligomerization domain-containing protein 2	Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity.
IL12B	Interleukin-12 subunit beta	Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC.
IL18R1	Interleukin-18 receptor 1	Within the IL18 receptor complex, responsible for the binding of the pro-inflammatory cytokine IL18, but not IL1A nor IL1B.
IL18RAP	Interleukin-18 receptor accessory protein	Within the IL18 receptor complex, does not mediate IL18-binding, but involved in IL18-dependent signal transduction, leading to NF-kappa-B and JNK activation.
IL21R	Interleukin-21 receptor	This is a receptor for interleukin-21.
IL4R	Interleukin-4 receptor subunit alpha	Receptor for both interleukin 4 and interleukin 13.
RAB32	Ras-related protein Rab-32	The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.

Protein-family classification

Druggable: 14 · Difficult: 0 · Unknown: 12 · Druggable fraction: 0.54

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	9	10.1×	5e-07
Kinase	3	3.2×	0.131
Protease	2	2.8×	0.210
Other/Unknown	12	0.8×	0.883

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RIPK2	Kinase	yes	2.7.10.2	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, CARD
RPS6KA4	Kinase	yes		Prot_kinase_dom, AGC-kinase_C, Ser/Thr_kinase_AS
SIGLEC5	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, Ig-like_dom
SYN2	Other/Unknown	no		Synapsin, ATP_grasp_subdomain_1, PreATP-grasp_dom_sf
TNFSF15	Other/Unknown	no		TNF_dom, TNF, Tumour_necrosis_fac-like_dom
C6orf15	Other/Unknown	no		C6orf15
LRRK2	Kinase	yes		Prot_kinase_dom, Leu-rich_rpt, Leu-rich_rpt_typical-subtyp
IL23R	Antibody/Immunoglobulin	yes		FN3_dom, Ig-like_fold, FN3_sf
COX4I1	Other/Unknown	no		Cyt_c_oxidase_su4_fam, Cyt_c_oxidase_su4, Cyt_c_oxidase_su4_sf
MED30	Other/Unknown	no		Mediator_Med30_met
DELEC1	Other/Unknown	no		DEC1
CTSB	Protease	yes	3.4.22.1	Pept_cys_AS, Peptidase_C1A_C, Propeptide_C1A
CYLD	Protease	yes		CAP-Gly_domain, Peptidase_C19_UCH, USP_CS
CCDC88B	Other/Unknown	no		CH_dom_sf, HOOK_N
LACC1	Other/Unknown	no		Cu_polyphenol_OxRdtase, Cytotoxic_necrot_fac-like_cat, Cu_polyphenol_OxRdtase_sf
BATF3	Other/Unknown	no		AP-1, bZIP, bZIP_sf
BBS9	Other/Unknown	no		PTHB1, PHTB1_N_dom, PHTB1_GAE_dom
HLA-C	Antibody/Immunoglobulin	yes		MHC_I_a_a1/a2, Ig_C1-set, Ig-like_dom
HLA-DQA1	Antibody/Immunoglobulin	yes		MHC_II_a_N, Ig/MHC_CS, Ig_C1-set
NOD2	Other/Unknown	no		CARD, Leu-rich_rpt, NACHT_NTPase
IL12B	Antibody/Immunoglobulin	yes		Hematopoietin_rcpt_L_F3_CS, Ig_sub2, FN3_dom
IL18R1	Antibody/Immunoglobulin	yes		TIR_dom, Ig_sub, IL-1_rcpt_I/II-typ
IL18RAP	Antibody/Immunoglobulin	yes		TIR_dom, Ig_sub, Ig-like_dom
IL21R	Antibody/Immunoglobulin	yes		Hempt_rcpt_S_F1_CS, FN3_dom, Ig-like_fold
IL4R	Antibody/Immunoglobulin	yes		Hempt_rcpt_S_F1_CS, FN3_dom, Ig-like_fold
RAB32	Other/Unknown	no		Small_GTPase, Small_GTP-bd, P-loop_NTPase

Expression context

Cohort genes with no expression data: 0.

24 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)	26
unknown	0

Top tissues across cohort

Tissue	Cohort genes
monocyte	5
granulocyte	5
blood	4
leukocyte	4
mononuclear cell	3
male germ line stem cell (sensu Vertebrata) in testis	3
oocyte	3
secondary oocyte	3
right lung	3
cartilage tissue	2
cerebellar hemisphere	2
right hemisphere of cerebellum	2
bone marrow	2
primordial germ cell in gonad	2
calcaneal tendon	2
lymph node	2
spleen	2
cerebellar cortex	1
Brodmann (1909) area 23	1
endothelial cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RIPK2	249	ubiquitous	marker	cartilage tissue, monocyte, mononuclear cell
RPS6KA4	215	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
SIGLEC5	120		yes	blood, male germ line stem cell (sensu Vertebrata) in testis, leukocyte
SYN2	217	broad	marker	middle temporal gyrus, endothelial cell, Brodmann (1909) area 23
TNFSF15	149	broad	marker	cartilage tissue, jejunal mucosa, duodenum
C6orf15	31	tissue_specific	yes	skin of leg, zone of skin, skin of abdomen
LRRK2	220	broad	marker	buccal mucosa cell, monocyte, leukocyte
IL23R	39	tissue_specific	marker	secondary oocyte, oocyte, adrenal tissue
COX4I1	306	ubiquitous	marker	apex of heart, heart left ventricle, cardiac ventricle
MED30	255	ubiquitous	marker	oocyte, secondary oocyte, bone marrow
DELEC1	154	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, granulocyte
CTSB	161	ubiquitous	marker	stromal cell of endometrium, right lobe of thyroid gland, left lobe of thyroid gland
CYLD	294	ubiquitous	marker	lateral nuclear group of thalamus, calcaneal tendon, lymph node
CCDC88B	165	broad	marker	granulocyte, cerebellar hemisphere, right hemisphere of cerebellum
LACC1	243	ubiquitous	marker	palpebral conjunctiva, corpus callosum, medial globus pallidus
BATF3	191	broad	marker	male germ line stem cell (sensu Vertebrata) in testis, spleen, nucleus accumbens
BBS9	279	ubiquitous	marker	oocyte, secondary oocyte, calcaneal tendon
HLA-C	134	ubiquitous	marker	blood, right lung, spleen
HLA-DQA1	244	broad	marker	gall bladder, rectum, monocyte
NOD2	189	broad	marker	monocyte, mononuclear cell, leukocyte
IL12B	33	tissue_specific	marker	primordial germ cell in gonad, decidua, hair follicle
IL18R1	191	broad	marker	right lung, upper lobe of left lung, upper lobe of lung
IL18RAP	172	broad	marker	granulocyte, blood, bone marrow
IL21R	178	broad	marker	granulocyte, lymph node, blood
IL4R	245	ubiquitous	marker	granulocyte, mucosa of stomach, right lung
RAB32	236	ubiquitous	marker	monocyte, mononuclear cell, leukocyte

Protein interactions among cohort

Intra-cohort edges: 11.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
LRRK2	7,628
CTSB	4,922
COX4I1	3,929
NOD2	3,527
CYLD	3,507
RIPK2	3,097
IL4R	2,970
SYN2	2,448
BATF3	1,938
CCDC88B	1,856

Intra-cohort edges

A	B	Sources
CYLD	NOD2	biogrid_interaction
IL12B	IL23R	string_interaction
IL18R1	IL18RAP	string_interaction
IL23R	NOD2	string_interaction
LACC1	LRRK2	string_interaction
LACC1	NOD2	string_interaction
LACC1	RIPK2	string_interaction
LACC1	TNFSF15	string_interaction
LRRK2	RAB32	intact
NOD2	RIPK2	biogrid_interaction, intact, string_interaction
NOD2	TNFSF15	string_interaction

Structural data

PDB: 18 · AlphaFold-only: 8 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
LRRK2	Q5S007	44
RIPK2	O43353	33
HLA-DQA1	P01909	28
CTSB	P07858	21
IL12B	P29460	20
HLA-C	P10321	13
MED30	Q96HR3	11
IL4R	P24394	10
TNFSF15	O95150	7
CYLD	Q9NQC7	6
IL21R	Q9HBE5	6
RAB32	Q13637	5
IL23R	Q5VWK5	4
SIGLEC5	O15389	3
COX4I1	P13073	3
IL18R1	Q13478	3
IL18RAP	O95256	3
BBS9	Q3SYG4	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
LACC1	Q8IV20	88.62
NOD2	Q9HC29	84.76
BATF3	Q9NR55	83.05
SYN2	Q92777	75.24
RPS6KA4	O75676	72.00
CCDC88B	A6NC98	70.19
DELEC1	Q9P2X7	62.47
C6orf15	Q6UXA7	43.65

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 89. Enrichment computed across 26 evidence-associated genes (20 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 20 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
NOD1/2 Signaling Pathway	3	47.6×	0.003	RIPK2, CYLD, NOD2
Interleukin-18 signaling	2	142.8×	0.003	IL18R1, IL18RAP
Interleukin-23 signaling	2	126.9×	0.003	IL23R, IL12B
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1	2	51.9×	0.013	RIPK2, NOD2
activated TAK1 mediates p38 MAPK activation	2	49.6×	0.013	RIPK2, NOD2
Interleukin-4 and Interleukin-13 signaling	3	15.4×	0.013	IL23R, IL12B, IL4R
SARS-CoV-2 activates/modulates innate and adaptive immune responses	3	13.4×	0.017	RIPK2, HLA-C, NOD2
TAK1-dependent IKK and NF-kappa-B activation	2	30.1×	0.022	RIPK2, NOD2
Ovarian tumor domain proteases	2	27.9×	0.023	RIPK2, NOD2
Downstream TCR signaling	2	12.8×	0.082	RIPK2, HLA-DQA1
Interferon gamma signaling	2	12.6×	0.082	HLA-C, HLA-DQA1
Interleukin-1 signaling	2	12.4×	0.082	RIPK2, NOD2
PTK6 promotes HIF1A stabilization	1	81.6×	0.084	LRRK2
Interleukin-21 signaling	1	57.1×	0.111	IL21R
Endosomal/Vacuolar pathway	1	51.9×	0.113	HLA-C
MHC class II antigen presentation	2	8.9×	0.115	CTSB, HLA-DQA1
p75NTR recruits signalling complexes	1	43.9×	0.118	RIPK2
Trafficking and processing of endosomal TLR	1	40.8×	0.120	CTSB
Serotonin Neurotransmitter Release Cycle	1	31.7×	0.124	SYN2
Translocation of ZAP-70 to Immunological synapse	1	31.7×	0.124	HLA-DQA1
Phosphorylation of CD3 and TCR zeta chains	1	27.2×	0.124	HLA-DQA1
Signaling by PTK6	1	27.2×	0.124	LRRK2
Signaling by Non-Receptor Tyrosine Kinases	1	27.2×	0.124	LRRK2
Co-inhibition by PD-1	1	25.9×	0.124	HLA-DQA1
Interleukin-37 signaling	1	25.9×	0.124	IL18R1
Dopamine Neurotransmitter Release Cycle	1	24.8×	0.124	SYN2
BBSome-mediated cargo-targeting to cilium	1	24.8×	0.124	BBS9
SRC activates STAT3 in a quantitative manner, through Cadherin-11 (CDH11), RAC1 and gp130 (IL6ST)	1	24.8×	0.124	CTSB
DAP12 interactions	1	23.8×	0.124	HLA-C
Collagen formation	1	22.8×	0.124	CTSB

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 26 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of T-helper 1 type immune response	3	194.4×	6e-05	RIPK2, IL23R, IL12B
nucleotide-binding oligomerization domain containing 2 signaling pathway	3	176.8×	6e-05	RIPK2, LACC1, NOD2
adaptive immune response	6	19.4×	6e-05	RIPK2, HLA-C, HLA-DQA1, NOD2, IL18R1, IL18RAP
positive regulation of type II interferon production	4	34.6×	4e-04	RIPK2, IL23R, IL12B, IL18R1
obsolete positive regulation of NF-kappaB transcription factor activity	4	31.6×	5e-04	RPS6KA4, NOD2, IL18R1, IL18RAP
positive regulation of interleukin-17 production	3	69.5×	5e-04	IL23R, NOD2, IL12B
defense response to protozoan	3	69.5×	5e-04	CCDC88B, IL12B, IL4R
natural killer cell activation	3	67.0×	5e-04	IL12B, IL18R1, IL21R
immune response	6	10.9×	5e-04	TNFSF15, HLA-C, HLA-DQA1, IL18R1, IL18RAP, IL4R
positive regulation of T cell mediated cytotoxicity	3	58.9×	6e-04	IL23R, HLA-C, IL12B
positive regulation of NK T cell activation	2	259.3×	6e-04	IL23R, IL12B
positive regulation of tumor necrosis factor production	4	23.6×	6e-04	RIPK2, LRRK2, NOD2, IL12B
interleukin-18-mediated signaling pathway	2	216.1×	8e-04	IL18R1, IL18RAP
cellular response to peptidoglycan	2	216.1×	8e-04	RIPK2, NOD2
positive regulation of interleukin-12 production	3	45.2×	9e-04	RIPK2, IL23R, IL12B
inflammatory response	6	8.7×	0.001	RIPK2, RPS6KA4, IL23R, LACC1, IL18R1, IL18RAP
positive regulation of protein K63-linked ubiquitination	2	162.0×	0.001	RIPK2, NOD2
positive regulation of T-helper 17 cell lineage commitment	2	162.0×	0.001	IL23R, IL12B
positive regulation of memory T cell differentiation	2	144.0×	0.001	IL23R, IL12B
cellular response to muramyl dipeptide	2	129.6×	0.002	RIPK2, NOD2
T-helper 1 cell differentiation	2	117.8×	0.002	IL18R1, IL4R
positive regulation of natural killer cell proliferation	2	108.0×	0.002	IL23R, IL12B
positive regulation of T-helper 17 type immune response	2	108.0×	0.002	IL23R, IL12B
positive regulation of T cell proliferation	3	29.9×	0.002	IL23R, CCDC88B, IL12B
positive regulation of non-canonical NF-kappaB signal transduction	3	29.5×	0.002	NOD2, IL12B, IL18R1
pattern recognition receptor signaling pathway	2	76.2×	0.004	LACC1, NOD2
positive regulation of cytokine production involved in immune response	2	76.2×	0.004	LACC1, NOD2
positive regulation of granulocyte macrophage colony-stimulating factor production	2	76.2×	0.004	IL23R, IL12B
positive regulation of stress-activated MAPK cascade	2	61.7×	0.005	RIPK2, NOD2
regulation of inflammatory response	3	19.4×	0.005	CYLD, LACC1, NOD2

Therapeutics

Drugs indicated for this disease

2 approved, 2 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Clofazimine	Approved (phase 4)
Dapsone	Approved (phase 4)
Bedaquiline	Phase 3 (in late-stage trials)
Rifampin	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Cyclosporine, Metformin, Prednisolone.

Drug target analysis

Approved (phase 4): 5 · Phase ≥3: 5 · Phased (≥1): 5 · Undrugged: 21

Druggability breadth: 14 of 26 evidence-associated genes (54%) 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
RIPK2	PONATINIB
RPS6KA4	FEDRATINIB
LRRK2	PONATINIB
CTSB	NITROXOLINE
NOD2	PACLITAXEL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
RIPK2	64	4
LRRK2	42	4
RPS6KA4	34	4
CTSB	13	4
NOD2	6	4
SIGLEC5	0	0
SYN2	0	0
TNFSF15	0	0
C6orf15	0	0
IL23R	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PONATINIB	4	LRRK2, RIPK2
AFATINIB	4	RIPK2
VEMURAFENIB	4	RIPK2
FEDRATINIB	4	LRRK2, RIPK2, RPS6KA4
TIVOZANIB	4	RIPK2
LENVATINIB	4	RIPK2
AXITINIB	4	LRRK2, RIPK2
SORAFENIB	4	RIPK2
IBRUTINIB	4	RIPK2
REGORAFENIB	4	RIPK2
DABRAFENIB	4	RIPK2
CABOZANTINIB	4	RIPK2
DACOMITINIB ANHYDROUS	4	RIPK2
VANDETANIB	4	LRRK2, RIPK2
BOSUTINIB	4	LRRK2, RIPK2
ENCORAFENIB	4	RIPK2
GILTERITINIB	4	RIPK2
PAZOPANIB	4	RIPK2
DASATINIB	4	RIPK2
ERLOTINIB	4	LRRK2, RIPK2, RPS6KA4
LAPATINIB	4	RIPK2
QUIZARTINIB	4	RIPK2
CRIZOTINIB	4	RIPK2
GEFITINIB	4	NOD2, RIPK2, RPS6KA4
RUXOLITINIB	4	LRRK2, RPS6KA4
NINTEDANIB	4	LRRK2, RPS6KA4
SUNITINIB	4	LRRK2, RPS6KA4
MIDOSTAURIN	4	LRRK2, RPS6KA4
PALBOCICLIB	4	LRRK2
ENTRECTINIB	4	LRRK2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

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

Symbol	Assays	Type breakdown
LRRK2	809	Binding:799, ADMET:7, Functional:3
CTSB	610	Binding:577, ADMET:25, Toxicity:5, Functional:3
RIPK2	455	Binding:452, ADMET:3
RPS6KA4	389	Binding:387, Functional:1, ADMET:1
NOD2	126	Binding:121, Functional:5
IL23R	13	Binding:13
CYLD	3	Binding:3
HLA-DQA1	2	Binding:2
COX4I1	1	Binding:1
HLA-C	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
RIPK2	2.7.10.2, 2.7.11.30	non-specific protein-tyrosine kinase, receptor protein serine/threonine kinase
CTSB	3.4.22.1	cathepsin B

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
RIPK2	455
RPS6KA4	389
LRRK2	809
CTSB	610
NOD2	126

Pharmacogenomics

Cohort genes with a PharmGKB record: 25; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

30 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)
PONATINIB	4	LRRK2, RIPK2
AFATINIB	4	RIPK2
VEMURAFENIB	4	RIPK2
FEDRATINIB	4	LRRK2, RIPK2, RPS6KA4
TIVOZANIB	4	RIPK2
LENVATINIB	4	RIPK2
AXITINIB	4	LRRK2, RIPK2
SORAFENIB	4	RIPK2
IBRUTINIB	4	RIPK2
REGORAFENIB	4	RIPK2
DABRAFENIB	4	RIPK2
CABOZANTINIB	4	RIPK2
DACOMITINIB ANHYDROUS	4	RIPK2
VANDETANIB	4	LRRK2, RIPK2
BOSUTINIB	4	LRRK2, RIPK2
ENCORAFENIB	4	RIPK2
GILTERITINIB	4	RIPK2
PAZOPANIB	4	RIPK2
DASATINIB	4	RIPK2
ERLOTINIB	4	LRRK2, RIPK2, RPS6KA4
LAPATINIB	4	RIPK2
QUIZARTINIB	4	RIPK2
CRIZOTINIB	4	RIPK2
GEFITINIB	4	NOD2, RIPK2, RPS6KA4
RUXOLITINIB	4	LRRK2, RPS6KA4
NINTEDANIB	4	LRRK2, RPS6KA4
SUNITINIB	4	LRRK2, RPS6KA4
MIDOSTAURIN	4	LRRK2, RPS6KA4
PALBOCICLIB	4	LRRK2
ENTRECTINIB	4	LRRK2

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	5	RIPK2, RPS6KA4, LRRK2, CTSB, NOD2
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	10	SIGLEC5, IL23R, CYLD, HLA-C, HLA-DQA1, IL12B, IL18R1, IL18RAP, IL21R, IL4R
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	11	SYN2, TNFSF15, C6orf15, COX4I1, MED30, DELEC1, CCDC88B, LACC1, BATF3, BBS9 (+1 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
LACC1	0	RIPK2, NOD2
SIGLEC5	0	—
SYN2	0	—
TNFSF15	0	—
C6orf15	0	—
IL23R	13	—
COX4I1	1	—
MED30	0	—
DELEC1	0	—
CYLD	3	—
CCDC88B	0	—
BATF3	0	—
BBS9	0	—
HLA-C	1	—
HLA-DQA1	2	—
IL12B	0	—
IL18R1	0	—
IL18RAP	0	—
IL21R	0	—
IL4R	0	—
RAB32	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 43.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	22
PHASE2	7
PHASE1	5
PHASE4	3
PHASE3	3
PHASE1/PHASE2	2
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00669643	PHASE4	COMPLETED	Uniform Multidrug Therapy Regimen for Leprosy Patients
NCT01165840	PHASE4	COMPLETED	Effect of Weight and/or Obesity on Dapsone Drug Concentrations
NCT02550080	PHASE4	UNKNOWN	Clinical Utility Of Genetic Screening For HLA-B*1301, On Susceptibility To Dapsone Hypersensitivity Syndrome
NCT05597280	PHASE3	RECRUITING	Bedaquiline Enhanced Post ExpOsure Prophylaxis for Leprosy
NCT00919815	PHASE2/PHASE3	COMPLETED	Ciclosporin in the Management of New Type 1 Reactions in Leprosy
NCT03324035	PHASE3	UNKNOWN	Treatment of Neuropathic Pain in Leprosy
NCT03662022	PHASE3	COMPLETED	Post ExpOsure Prophylaxis for LEprosy in the Comoros and Madagascar
NCT05243654	PHASE2	RECRUITING	Efficacy and Tolerability of Adjunct Metformin for Multibacillary Leprosy
NCT00128193	PHASE2	COMPLETED	Leprosy Skin Test Antigens Trial
NCT00919451	PHASE2	COMPLETED	Ciclosporin in the Management of Steroid Resistant Type 1 Reactions in Leprosy
NCT00919542	PHASE2	COMPLETED	Ciclosporin in the Management of New Erythema Nodosum Leprosum
NCT00919776	PHASE2	COMPLETED	Ciclosporin in the Management of Chronic or Recurrent Erythema Nodosum Leprosum
NCT01885611	PHASE1/PHASE2	WITHDRAWN	Virgin Coconut Oil Oral Supplementation for Leprosy Patients
NCT03807362	PHASE2	UNKNOWN	CC-11050 Trial in Nepalese Patients With Erythema Nodosum Leprosum
NCT03947437	PHASE1/PHASE2	UNKNOWN	Phase 1b/2a Trial to Evaluate LEP-F1 + GLA-SE in Healthy Adults and Leprosy Patients
NCT05406479	PHASE2	COMPLETED	Bedaquiline Enhanced Post ExpOsure Prophylaxis for Leprosy (Phase 2)
NCT06627257	PHASE1	NOT_YET_RECRUITING	Trial LEP-F1 + GLA-SE in Healthy Adult in Areas Endemic for Leprosy
NCT01006759	PHASE1	COMPLETED	Prevention of Disability: Proposal for a Guidance Manual for Leprosy Patients
NCT01920750	PHASE1	COMPLETED	Leprosy Skin Test Antigens Phase 1
NCT03302897	PHASE1	COMPLETED	Phase 1 LEP-F1 + GLA-SE Vaccine Trial in Healthy Adult Volunteers
NCT05777213	PHASE1	COMPLETED	Potential Injection of Human Umbilical Cord Secretome in the Case of Trophic Ulcers (Pre-post Intervention)
NCT06222372	Not specified	RECRUITING	Novel Interventions and Diagnostic Tests for Leprosy
NCT06683690	Not specified	RECRUITING	TGF β 1 Expression Related Gene Polymorphism
NCT06761469	Not specified	RECRUITING	Leprosy Active Searching Trial in Brazil
NCT06819449	Not specified	RECRUITING	Rab 32 Gene Polymorphisms as a Prognostic Factor in Leprosy Patients
NCT07248462	Not specified	NOT_YET_RECRUITING	Integrating Mental Health Into Neglected Tropical Disease Care in Ghana
NCT07448389	Not specified	NOT_YET_RECRUITING	Epidemiological, Clinical, Diagnostic, and Therapeutic Characteristics of Hansen’s Disease in Costa Rica (2018-2025)
NCT07506967	Not specified	NOT_YET_RECRUITING	Early Detection and AI-Based Management of Skin-Related Neglected Tropical Diseases in Sub-Saharan Africa by Frontline Health Workers
NCT07515989	Not specified	RECRUITING	Accuracy of the Polymerase Chain Reaction of Ulnar Perineural Subcutaneous Aspirate Guided by Ultrasound for the Diagnosis and Monitoring of Leprosy Cure
NCT00138437	Not specified	COMPLETED	Molecular and Immunological Tools for Detection of Strain Diversity, Drug Resistance and Immunological Responses
NCT00315809	Not specified	COMPLETED	Molecular Epidemiology of Leprosy - Philippines
NCT00406861	Not specified	UNKNOWN	Montelukast in ENL Reaction
NCT00852345	Not specified	NO_LONGER_AVAILABLE	Treatment Protocol for Clofazamine in the Long Term Treatment of Leprosy
NCT00860717	Not specified	COMPLETED	The Use of Low Level Laser Therapy for Wound Healing in Leprosy Patients
NCT01751503	Not specified	TERMINATED	Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer
NCT02484469	Not specified	COMPLETED	Impact of the Virtual Human Project on Team-based Learning: A Randomized-controlled Trial
NCT03084614	Not specified	TERMINATED	CD8 Reactivity to Microorganisms in Blood and Breast Milk
NCT03526718	Not specified	COMPLETED	Improved Understanding of Ongoing Transmission of Leprosy in the Hyperendemic Comoros (ComLep)
NCT03683745	Not specified	COMPLETED	Integrated Mapping of Skin-presenting Neglected Tropical Diseases in Liberia
NCT05031091	Not specified	UNKNOWN	Epidemiology of Leprosy in French Guiana

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DAPSONE	4	4
AMITRIPTYLINE	4	3
PREDNISOLONE	4	3
RIFAMPIN	4	2
BEDAQUILINE	4	1
TUBERCULIN	3	1
DOVRAMILAST	2	1