TASL

Summary

TASL (TLR adaptor interacting with endolysosomal SLC15A4, HGNC:25667) is a protein-coding gene on chromosome Xp21.2, encoding TLR adapter interacting with SLC15A4 on the lysosome (Q9HAI6). Innate immune adapter that mediates the recruitment and activation of IRF5 downstream of endolysosomal toll-like receptors TLR7, TLR8 and TLR9.

Involved in positive regulation of toll-like receptor 7 signaling pathway; positive regulation of toll-like receptor 8 signaling pathway; and regulation of lysosomal lumen pH. Located in cytosol; endolysosome membrane; and nucleoplasm.

Source: NCBI Gene 80231 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 26 total — 2 pathogenic
• MANE Select transcript: NM_025159

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25667
Approved symbol	TASL
Name	TLR adaptor interacting with endolysosomal SLC15A4
Location	Xp21.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11577
Ensembl gene	ENSG00000120280
Ensembl biotype	protein_coding
OMIM	301049
Entrez	80231

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000378962, ENST00000955826, ENST00000955827

RefSeq mRNA: 1 — MANE Select: NM_025159 NM_025159

CCDS: CCDS14224

Canonical transcript exons

ENST00000378962 — 3 exons

Exon	Start	End
ENSE00001091645	30576752	30576866
ENSE00001479394	30558809	30560356
ENSE00001479395	30577638	30577766

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 98.13.

FANTOM5 (CAGE): breadth broad, TPM avg 5.0448 / max 656.6692, expressed in 426 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198773	2.8788	307
198774	0.9967	244
198775	0.5922	246
198777	0.2684	136
198776	0.2596	134
198772	0.0491	31

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	98.13	gold quality
monocyte	CL:0000576	92.31	gold quality
mononuclear cell	CL:0000842	92.08	gold quality
cerebellar vermis	UBERON:0004720	91.90	gold quality
leukocyte	CL:0000738	91.79	gold quality
cervix squamous epithelium	UBERON:0006922	90.05	gold quality
pylorus	UBERON:0001166	88.05	gold quality
tendon of biceps brachii	UBERON:0008188	88.03	gold quality
type B pancreatic cell	CL:0000169	87.98	silver quality
olfactory bulb	UBERON:0002264	87.56	silver quality
cardia of stomach	UBERON:0001162	87.52	gold quality
trabecular bone tissue	UBERON:0002483	87.46	gold quality
male germ cell	CL:0000015	87.29	silver quality
sperm	CL:0000019	87.11	silver quality
bone marrow	UBERON:0002371	86.45	gold quality
inferior vagus X ganglion	UBERON:0005363	86.42	gold quality
vena cava	UBERON:0004087	86.38	gold quality
blood	UBERON:0000178	86.18	gold quality
ventral tegmental area	UBERON:0002691	86.07	gold quality
superficial temporal artery	UBERON:0001614	85.95	gold quality
thymus	UBERON:0002370	85.93	gold quality
superior surface of tongue	UBERON:0007371	85.88	gold quality
nipple	UBERON:0002030	85.72	gold quality
granulocyte	CL:0000094	85.54	gold quality
tongue squamous epithelium	UBERON:0006919	85.44	silver quality
subthalamic nucleus	UBERON:0001906	85.02	gold quality
trachea	UBERON:0003126	84.67	gold quality
pericardium	UBERON:0002407	84.47	gold quality
dorsal plus ventral thalamus	UBERON:0001897	84.38	silver quality
tongue	UBERON:0001723	84.24	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.71
E-MTAB-5061	no	3.72
E-CURD-112	no	3.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting TASL, 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-4267	99.96	66.53	2368
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-6513-3P	99.59	69.77	1102
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-3977	98.00	68.17	1500
HSA-MIR-617	96.79	65.96	738

Literature-anchored findings (GeneRIF, showing 4)

• Through combined genetic, in silico, in vitro, and ex vivo approaches, study defines CXorf21, a gene of hitherto unknown function, which escapes X-chromosome inactivation, as a candidate underlying the Xp21.2 systemic lupus erythematosus association and demonstrates that CXorf21 is an IFN-response gene and that the sexual dimorphism in expression is magnified by immunological challenge. (PMID:31092820)
• Characterization of cxorf21 Provides Molecular Insight Into Female-Bias Immune Response in SLE Pathogenesis. (PMID:31695690)
• identification of TASL as the component that links endolysosomal TLRs to the IRF5 transcription factor via SLC15A4 provides a mechanistic explanation for the involvement of these proteins in systemic lupus erythematosus (PMID:32433612)
• TASL mediates keratinocyte differentiation by regulating intracellular calcium levels and lysosomal function. (PMID:38744928)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tasl	ENSMUSG00000025058
rattus_norvegicus	Tasl	ENSRNOG00000003748

Protein

Protein identifiers

TLR adapter interacting with SLC15A4 on the lysosome — Q9HAI6 (reviewed: Q9HAI6)

All UniProt accessions (1): Q9HAI6

UniProt curated annotations — full annotation on UniProt →

Function. Innate immune adapter that mediates the recruitment and activation of IRF5 downstream of endolysosomal toll-like receptors TLR7, TLR8 and TLR9. Following recruitment to endolysosome by SLC15A4 downstream of TLR7, TLR8 and TLR9, specifically recruits IRF5 transcription factor via its pLxIS motif, leading to IRF5 activation and subsequent expression of type I interferons. Plays a role in the regulation of endolysosomal pH in immune cells such as B-cells, dendritic cells and monocytes.

Subunit / interactions. Interacts (via pLxIS motif) with IRF5; leading to IRF5 activation. Interacts (via N-terminus) with SLC15A4; leading to its recruitment to endolysosome.

Subcellular location. Lysosome membrane. Endosome membrane. Nucleus. Cytoplasm.

Tissue specificity. Highly expressed in immune cell types such as B-cells, neutrophils, dendritic cells and monocytes, the expression levels are two-three-fold higher in female cells compared to male cells (at protein level). Expressed at low levels in T-cells and NK cells.

Post-translational modifications. The phosphorylated pLxIS motif constitutes an IRF5-binding motif, leading to recruitment of the transcription factor IRF5 to induce type-I interferons and other cytokines.

Disease relevance. Some alleles may be associated with systemic lupus erythematosus (SLE); a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. Because it evades X-chromosome inactivation, its expression is increased in female immune cells which may be involved to SLE striking sex imbalance towards females.

Domain organisation. The pLxIS motif constitutes an IRF5-binding motif: following phosphorylation, the phosphorylated pLxIS motif of TASL recruits IRF5.

Induction. Escape from X chromosome inactivation results in an increased expression in females. In monocytes and B cells, induced by type I and type II interferons as well as LPS.

Similarity. Belongs to the TASL protein family.

RefSeq proteins (1): NP_079435* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027869	TASL	Family

Pfam: PF15133

UniProt features (7 total): mutagenesis site 2, helix 2, chain 1, short sequence motif 1, modified residue 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8JZU	ELECTRON MICROSCOPY	3.05
8WX5	ELECTRON MICROSCOPY	3.91

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HAI6-F1	58.54	0.11

Functional residue map

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

Post-translational modifications (1): 294

Mutagenesis-validated functional residues (2):

Position	Phenotype
294	abolished ability to activate irf5.
294	phosphomimetic mutant; retains ability to activate irf5.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-9860276	SLC15A4:TASL-dependent IRF5 activation
R-HSA-168138	Toll Like Receptor 9 (TLR9) Cascade
R-HSA-168181	Toll Like Receptor 7/8 (TLR7/8) Cascade
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-168898	Toll-like Receptor Cascades

MSigDB gene sets: 158 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_VACUOLE_ORGANIZATION, GOCC_VACUOLAR_MEMBRANE, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MODULE_308, NFKB_Q6, GOBP_REGULATION_OF_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, GOBP_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, NFKB_C, IRF7_01, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, MODULE_301

GO Biological Process (7): regulation of toll-like receptor signaling pathway (GO:0034121), positive regulation of toll-like receptor 7 signaling pathway (GO:0034157), positive regulation of toll-like receptor 8 signaling pathway (GO:0034161), obsolete regulation of lysosomal lumen pH (GO:0035751), innate immune response (GO:0045087), positive regulation of innate immune response (GO:0045089), immune system process (GO:0002376)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (10): nucleoplasm (GO:0005654), cytosol (GO:0005829), endolysosome membrane (GO:0036020), nucleus (GO:0005634), cytoplasm (GO:0005737), lysosome (GO:0005764), lysosomal membrane (GO:0005765), endosome (GO:0005768), endosome membrane (GO:0010008), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Toll-like Receptor Cascades	2
Toll Like Receptor 9 (TLR9) Cascade	1
Toll Like Receptor 7/8 (TLR7/8) Cascade	1
Immune System	1
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
positive regulation of pattern recognition receptor signaling pathway	2
positive regulation of intracellular signal transduction	2
toll-like receptor signaling pathway	1
regulation of pattern recognition receptor signaling pathway	1
toll-like receptor 7 signaling pathway	1
regulation of toll-like receptor 7 signaling pathway	1
toll-like receptor 8 signaling pathway	1
regulation of toll-like receptor 8 signaling pathway	1
immune response	1
defense response to symbiont	1
positive regulation of response to biotic stimulus	1
positive regulation of defense response	1
positive regulation of response to external stimulus	1
innate immune response	1
regulation of innate immune response	1
positive regulation of immune response	1
biological_process	1
binding	1
nuclear lumen	1
cytoplasm	1
lysosomal membrane	1
endosome membrane	1
endolysosome	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1
endomembrane system	1
cytoplasmic vesicle	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1

Protein interactions and networks

STRING

428 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TASL	SLC15A4	Q8N697	711
TASL	TLR7	Q9NYK1	603
TASL	TMEM187	Q14656	524
TASL	GTPBP6	O43824	419
TASL	COXFA4L3	Q9C002	407
TASL	IRF5	Q13568	356
TASL	MAGEB1	P43366	348
TASL	NR0B1	P51843	322
TASL	C1orf162	Q8NEQ5	305
TASL	MAGEB3	O15480	302
TASL	RUBCNL	Q9H714	298
TASL	IRAK1	P51617	292
TASL	WDFY4	Q6ZS81	290
TASL	TAF9B	Q9HBM6	280
TASL	IL1RAPL1	Q9NZN1	263

IntAct

20 interactions, top by confidence:

A	B	Type	Score
TASL	SLC15A4	psi-mi:“MI:0915”(physical association)	0.810
SLC15A4	TASL	psi-mi:“MI:0915”(physical association)	0.810
SLC15A4	TASL	psi-mi:“MI:0403”(colocalization)	0.810
SLC15A4	PGRMC1	psi-mi:“MI:0914”(association)	0.530
SLC15A4	IRF5	psi-mi:“MI:0914”(association)	0.460
TASL	CYLD	psi-mi:“MI:0407”(direct interaction)	0.440
Slc15a4	TASL	psi-mi:“MI:0915”(physical association)	0.400
TASL	CFTR	psi-mi:“MI:0915”(physical association)	0.370
CFTR	TASL	psi-mi:“MI:0915”(physical association)	0.370
SLC15A4	ESYT2	psi-mi:“MI:0914”(association)	0.350
TASL	HSPA2	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): SLC15A4 (Affinity Capture-MS), SLC15A4 (Affinity Capture-MS), SLC15A4 (Affinity Capture-MS), HSPA2 (Affinity Capture-MS), ACTC1 (Affinity Capture-MS), SLC25A31 (Affinity Capture-MS), ACTB (Affinity Capture-MS), CXorf21 (Reconstituted Complex), CXorf21 (PCA), CXorf21 (Affinity Capture-Western), Slc15a4 (Affinity Capture-Western), CXorf21 (Affinity Capture-MS), CXorf21 (Affinity Capture-RNA)

ESM2 similar proteins: A1YF19, A2T767, B0K035, B2GUZ2, E9PV87, F7BHS0, O95997, P0DPK0, P23999, P97613, Q08B36, Q08BD8, Q09HN1, Q25QX6, Q2KHM9, Q2QD14, Q2QD15, Q2T9X8, Q2WG80, Q32LD7, Q3SZY3, Q3UHI0, Q3V1H1, Q5R7F8, Q5RBY6, Q5RKG1, Q5ZJU5, Q6A000, Q6AYH4, Q6DF94, Q8BHZ5, Q8C804, Q8IYA6, Q8N0Z3, Q8QGU6, Q94CK6, Q96C57, Q96FF9, Q96M53, Q9BDP6

Diamond homologs: Q32LD7, Q9D3J9, Q9HAI6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	3
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3245900	NC_000023.10:g.(?30322696)(33038337_?)del	Pathogenic
980269	GRCh37/hg19 Xp21.3-21.1(chrX:28309706-31853992)x1	Pathogenic

SpliceAI

223 predictions. Top by Δscore:

Variant	Effect	Δscore
X:30576746:TACTA:T	donor_loss	1.0000
X:30576747:ACTAC:A	donor_loss	1.0000
X:30576748:CTACC:C	donor_loss	1.0000
X:30576749:TAC:T	donor_loss	1.0000
X:30576751:C:A	donor_gain	1.0000
X:30576751:C:CT	donor_loss	1.0000
X:30576862:CTGAC:C	acceptor_gain	1.0000
X:30576866:CC:C	acceptor_loss	1.0000
X:30576866:CCTA:C	acceptor_gain	1.0000
X:30576869:A:AC	acceptor_gain	1.0000
X:30576869:A:C	acceptor_gain	1.0000
X:30560353:CATT:C	acceptor_gain	0.9900
X:30560355:TT:T	acceptor_gain	0.9900
X:30560357:C:CC	acceptor_gain	0.9900
X:30561885:T:A	donor_gain	0.9900
X:30576863:TGAC:T	acceptor_gain	0.9900
X:30576867:C:CC	acceptor_gain	0.9900
X:30560355:TTC:T	acceptor_loss	0.9800
X:30560356:TC:T	acceptor_loss	0.9800
X:30576778:A:AC	donor_gain	0.9800
X:30576779:T:C	donor_gain	0.9800
X:30576864:GAC:G	acceptor_gain	0.9800
X:30576864:GACC:G	acceptor_gain	0.9800
X:30577633:CTTAC:C	donor_loss	0.9800
X:30577634:TTA:T	donor_loss	0.9800
X:30577635:TACC:T	donor_loss	0.9800
X:30577636:A:AT	donor_loss	0.9800
X:30577637:C:T	donor_loss	0.9800
X:30560352:GCATT:G	acceptor_gain	0.9700
X:30560353:CATTC:C	acceptor_gain	0.9700

AlphaMissense

1994 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:30559976:A:G	L127S	0.992
X:30559715:A:G	L214P	0.984
X:30559597:A:C	S253R	0.971
X:30559597:A:T	S253R	0.971
X:30559599:T:G	S253R	0.971
X:30559727:A:G	L210P	0.968
X:30559979:T:G	D126A	0.963
X:30559692:A:C	Y222D	0.961
X:30559694:A:G	L221S	0.960
X:30559703:A:T	V218D	0.960
X:30559724:T:A	N211I	0.960
X:30559970:A:C	I129S	0.960
X:30559723:A:C	N211K	0.959
X:30559723:A:T	N211K	0.959
X:30559979:T:A	D126V	0.959
X:30560018:A:T	V113D	0.954
X:30559979:T:C	D126G	0.952
X:30559978:G:C	D126E	0.948
X:30559978:G:T	D126E	0.948
X:30559478:A:G	I293T	0.943
X:30559712:T:A	E215V	0.941
X:30559718:T:G	Y213S	0.941
X:30559727:A:T	L210Q	0.939
X:30559484:A:T	L291H	0.937
X:30559484:A:G	L291P	0.936
X:30559970:A:T	I129N	0.935
X:30559705:C:A	K217N	0.928
X:30559705:C:G	K217N	0.928
X:30559715:A:C	L214R	0.928
X:30559719:A:C	Y213D	0.928

dbSNP variants (sampled 300 via entrez): RS1000193956 (X:30575779 T>G), RS1000196401 (X:30569382 A>G), RS1000207756 (X:30570253 CACACACAT>C), RS1000543521 (X:30572968 G>A), RS1000894437 (X:30559136 T>A), RS1001152602 (X:30578183 A>T), RS1001433652 (X:30558346 C>T), RS1001775537 (X:30562226 A>C), RS1001983673 (X:30578389 C>A,T), RS1002053767 (X:30576675 A>G), RS1002163805 (X:30575099 T>C), RS1002292364 (X:30560265 T>C), RS1002553253 (X:30577772 G>C), RS1002764417 (X:30572164 A>G), RS1003226561 (X:30571765 T>C)

Disease associations

OMIM: gene MIM:301049 | disease phenotypes: MIM:310200

GenCC curated gene-disease

Mondo (1): Duchenne muscular dystrophy (MONDO:0010679)

Orphanet (1): Duchenne muscular dystrophy (Orphanet:98896)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003155_26	Systemic lupus erythematosus	5.000000e-10
GCST003156_12	Systemic lupus erythematosus	7.000000e-08

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020388	Muscular Dystrophy, Duchenne	C05.651.534.500.300; C10.668.491.175.500.300; C16.320.322.562; C16.320.577.300

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression, increases mutagenesis	3
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
triphenyl phosphate	affects expression	1
sulforaphane	decreases expression	1
benzo(e)pyrene	decreases methylation	1
Formaldehyde	increases expression	1
Iron	decreases expression	1
Methapyrilene	decreases methylation	1
Methyl Methanesulfonate	increases expression	1
Nickel	increases expression	1
Tretinoin	increases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00819845	PHASE4	UNKNOWN	Ramipril Versus Carvedilol in Duchenne and Becker Patients
NCT01422200	PHASE4	COMPLETED	Flu Vaccine Study in Neuromuscular Patients 2011
NCT01999075	PHASE4	COMPLETED	Stacking Exercises Aid the Decline in FVC and Sick Time
NCT04687020	PHASE4	ACTIVE_NOT_RECRUITING	Long-term Use of Viltolarsen in Boys With Duchenne Muscular Dystrophy in Clinical Practice (VILT-502)
NCT04708314	PHASE4	TERMINATED	An Open-Label Study of Golodirsen in Non-Ambulant Patients With Duchenne Muscular Dystrophy
NCT05412394	PHASE4	RECRUITING	Once Weekly Infant Corticosteroid Trial for DMD
NCT06713135	PHASE4	ACTIVE_NOT_RECRUITING	A Study on Safety and Effectiveness of Long-term Treatment With Vamorolone in Boys With Duchenne Muscular Dystrophy
NCT07542314	PHASE4	NOT_YET_RECRUITING	Study to Evaluate the Safety and Effectiveness of ELEVIDYS in Participants With Duchenne Muscular Dystrophy Treated in a Post-Marketing Setting
NCT00004646	PHASE3	COMPLETED	Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy
NCT00110669	PHASE3	COMPLETED	High-dose Prednisone in Duchenne Muscular Dystrophy
NCT00308113	PHASE3	TERMINATED	CoQ10 and Prednisone in Non-Ambulatory DMD
NCT00839033	PHASE3	TERMINATED	Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
NCT01247207	PHASE3	COMPLETED	Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD)
NCT01557400	PHASE3	COMPLETED	Study of Ataluren for Previously Treated Participants With Nonsense Mutation Duchenne/Becker Muscular Dystrophy (nmDBMD) in Europe, Israel, Australia, and Canada
NCT01603407	PHASE3	COMPLETED	Finding the Optimum Regimen for Duchenne Muscular Dystrophy
NCT01648634	PHASE3	COMPLETED	Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
NCT02255552	PHASE3	COMPLETED	Study of Eteplirsen in DMD Patients
NCT02354352	PHASE3	COMPLETED	Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy
NCT02500381	PHASE3	COMPLETED	Study of SRP-4045 (Casimersen) and SRP-4053 (Golodirsen) in Participants With Duchenne Muscular Dystrophy (DMD)
NCT02814019	PHASE3	TERMINATED	A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid Steroids
NCT02851797	PHASE3	COMPLETED	Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy
NCT03354039	PHASE3	COMPLETED	Tamoxifen in Duchenne Muscular Dystrophy
NCT03532542	PHASE3	TERMINATED	An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy
NCT03603288	PHASE3	TERMINATED	Phase III Study With Idebenone in Patients With Duchenne Muscular Dystrophy (SIDEROS-E)
NCT03642145	PHASE3	WITHDRAWN	A Study of Deflazacort (Emflaza®) in Participants With Duchenne Muscular Dystrophy (DMD)
NCT03917719	PHASE3	TERMINATED	An Open-Label Extension Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy
NCT04060199	PHASE3	COMPLETED	Study to Assess the Efficacy and Safety of Viltolarsen in Ambulant Boys With DMD (RACER53)
NCT04281485	PHASE3	ACTIVE_NOT_RECRUITING	Study to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular Dystrophy
NCT04371666	PHASE3	TERMINATED	Phase 3 Trial of Pamrevlumab or Placebo With Systemic Corticosteroids in Participants With Non-ambulatory Duchenne Muscular Dystrophy (DMD)
NCT04587908	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study of TAS-205 in Patients With Duchenne Muscular Dystrophy（REACH-DMD）
NCT04632940	PHASE3	TERMINATED	Phase 3 Trial of Pamrevlumab or Placebo in Combination With Systemic Corticosteroids in Participants With Ambulatory DMD
NCT04768062	PHASE3	UNKNOWN	Study to Assess the Safety and Efficacy of Viltolarsen in Ambulant Boys With DMD (RACER53-X)
NCT05096221	PHASE3	COMPLETED	A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Participants With Duchenne Muscular Dystrophy (DMD)
NCT05689164	PHASE3	TERMINATED	A Study to Understand the Long-term Safety and Effects of an Experimental Gene Therapy for Duchenne Muscular Dystrophy.
NCT05881408	PHASE3	ACTIVE_NOT_RECRUITING	A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Non-Ambulatory and Ambulatory Participants With Duchenne Muscular Dystrophy (DMD)
NCT05933057	PHASE3	RECRUITING	Efficacy, Safety and Tolerability of Givinostat in Non-ambulant Patients With Duchenne Muscular Dystrophy
NCT05967351	PHASE3	ENROLLING_BY_INVITATION	A Long-term Follow-up Study of Participants Who Received Delandistrogene Moxeparvovec (SRP-9001) in a Previous Clinical Study
NCT07160634	PHASE3	RECRUITING	A Study of SGT-003 Gene Therapy in Ambulant Males With Duchenne Muscular Dystrophy (IMPACT DUCHENNE)
NCT07587242	PHASE3	NOT_YET_RECRUITING	A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping