C2orf49

Summary

C2orf49 (chromosome 2 open reading frame 49, HGNC:28772) is a protein-coding gene on chromosome 2q12.2, encoding tRNA-splicing ligase complex subunit ASW (Q9BVC5). Accessory subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3’,5’-phosphodiester.

Predicted to be involved in tRNA splicing, via endonucleolytic cleavage and ligation. Located in nucleoplasm. Part of tRNA-splicing ligase complex.

Source: NCBI Gene 79074 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 222 total — 2 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_024093

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28772
Approved symbol	C2orf49
Name	chromosome 2 open reading frame 49
Location	2q12.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC5509, asw
Ensembl gene	ENSG00000135974
Ensembl biotype	protein_coding
Entrez	79074

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000258457, ENST00000410049, ENST00000718457, ENST00000899893, ENST00000899894, ENST00000942644

RefSeq mRNA: 2 — MANE Select: NM_024093 NM_001286537, NM_024093

CCDS: CCDS2068, CCDS74550

Canonical transcript exons

ENST00000258457 — 4 exons

Exon	Start	End
ENSE00000921889	105339583	105339749
ENSE00000921890	105342848	105343223
ENSE00004035151	105337540	105337686
ENSE00004035152	105345315	105349211

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 91.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.4253 / max 258.3651, expressed in 1814 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
21809	22.4253	1814

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	91.28	gold quality
tibia	UBERON:0000979	89.27	gold quality
tendon	UBERON:0000043	89.18	gold quality
palpebral conjunctiva	UBERON:0001812	88.62	gold quality
corpus callosum	UBERON:0002336	88.54	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.23	gold quality
epithelium of nasopharynx	UBERON:0001951	86.93	gold quality
nasopharynx	UBERON:0001728	86.92	gold quality
stromal cell of endometrium	CL:0002255	86.56	gold quality
endometrium	UBERON:0001295	86.53	gold quality
amniotic fluid	UBERON:0000173	86.31	gold quality
tendon of biceps brachii	UBERON:0008188	86.19	gold quality
monocyte	CL:0000576	86.10	gold quality
medial globus pallidus	UBERON:0002477	86.10	gold quality
esophagus squamous epithelium	UBERON:0006920	86.07	gold quality
muscle of leg	UBERON:0001383	85.99	gold quality
mononuclear cell	CL:0000842	85.98	gold quality
gastrocnemius	UBERON:0001388	85.91	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	85.74	gold quality
leukocyte	CL:0000738	85.56	gold quality
inferior vagus X ganglion	UBERON:0005363	85.52	gold quality
globus pallidus	UBERON:0001875	85.44	gold quality
ventricular zone	UBERON:0003053	85.37	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.24	gold quality
cortical plate	UBERON:0005343	85.19	gold quality
epithelium of esophagus	UBERON:0001976	84.84	gold quality
skeletal muscle organ	UBERON:0014892	84.80	gold quality
muscle organ	UBERON:0001630	84.78	gold quality
ovary	UBERON:0000992	84.68	gold quality
superior vestibular nucleus	UBERON:0007227	84.42	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.10
E-ENAD-20	no	47.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

192 targeting C2orf49, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	C9H2orf49	ENSDARG00000042025
mus_musculus	AI597479	ENSMUSG00000010290
rattus_norvegicus	C9h2orf49	ENSRNOG00000016447

Protein

Protein identifiers

tRNA-splicing ligase complex subunit ASW — Q9BVC5 (reviewed: Q9BVC5)

All UniProt accessions (2): C9J4K0, Q9BVC5

UniProt curated annotations — full annotation on UniProt →

Function. Accessory subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3’,5’-phosphodiester. May act as an RNA ligase with broad substrate specificity and may function toward other RNAs.

Subunit / interactions. Component of the tRNA-splicing ligase core complex composed of the catalytic subunit RTCB and the accessory proteins DDX1, C2orf49/Ashwin/ASW, FAM98B and RTRAF/CGI-99.

Subcellular location. Nucleus.

Similarity. Belongs to the ashwin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BVC5-1	1	yes
Q9BVC5-2	2

RefSeq proteins (2): NP_001273466, NP_076998* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024887	Ashwin	Family

Pfam: PF15323

UniProt features (17 total): modified residue 8, compositionally biased region 3, region of interest 2, splice variant 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BVC5-F1	66.31	0.17

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 (8): 189, 193, 197, 198, 112, 143, 182, 184

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6784531	tRNA processing in the nucleus
R-HSA-72306	tRNA processing
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 139 (showing top): GOBP_TRNA_METABOLIC_PROCESS, chr2q12, GOBP_RNA_SPLICING_VIA_ENDONUCLEOLYTIC_CLEAVAGE_AND_LIGATION, GOBP_RNA_SPLICING, GOBP_EMBRYO_DEVELOPMENT, GOBP_TRNA_PROCESSING, REACTOME_METABOLISM_OF_RNA, SCGGAAGY_ELK1_02, MGGAAGTG_GABP_B, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GOBP_EMBRYONIC_MORPHOGENESIS, PILON_KLF1_TARGETS_UP, GOCC_TRNA_SPLICING_LIGASE_COMPLEX, REACTOME_TRNA_PROCESSING_IN_THE_NUCLEUS, REACTOME_TRNA_PROCESSING

GO Biological Process (2): tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388), embryonic morphogenesis (GO:0048598)

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

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), tRNA-splicing ligase complex (GO:0072669)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
tRNA processing	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
RNA splicing, via endonucleolytic cleavage and ligation	1
tRNA processing	1
anatomical structure morphogenesis	1
embryo development	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
intracellular protein-containing complex	1
catalytic complex	1

Protein interactions and networks

STRING

2006 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C2orf49	FAM98B	Q52LJ0	909
C2orf49	RTRAF	Q9Y224	896
C2orf49	RTCB	Q9Y3I0	743
C2orf49	DDX1	Q92499	678
C2orf49	FAM98A	Q8NCA5	620
C2orf49	ZBTB8OS	Q8IWT0	479
C2orf49	EEF1AKMT1	Q8WVE0	437
C2orf49	NOC3L	Q8WTT2	387
C2orf49	PHYHIPL	Q96FC7	383
C2orf49	ZBED4	O75132	373
C2orf49	ARR3	P36575	348
C2orf49	DHX57	Q6P158	333
C2orf49	CDK11B	P21127	306
C2orf49	OSBPL1A	Q9BXW6	296
C2orf49	FCHSD2	O94868	293

IntAct

42 interactions, top by confidence:

A	B	Type	Score
RNASE1	RNH1	psi-mi:“MI:0914”(association)	0.850
PIN1	POLR2D	psi-mi:“MI:0914”(association)	0.640
GLI2	KIF7	psi-mi:“MI:0914”(association)	0.570
RTRAF	C2orf49	psi-mi:“MI:0915”(physical association)	0.560
C2orf49	WFS1	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	C2orf49	psi-mi:“MI:0915”(physical association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
DDX1	FAM98C	psi-mi:“MI:0914”(association)	0.530
STK39	C2orf49	psi-mi:“MI:0915”(physical association)	0.400
C2orf49	PNN	psi-mi:“MI:0915”(physical association)	0.400
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAZ	SPEG	psi-mi:“MI:0914”(association)	0.350
STYX	BANF1	psi-mi:“MI:0914”(association)	0.350
TAGLN	LOC392647	psi-mi:“MI:0914”(association)	0.350
DDX39B	RBM33	psi-mi:“MI:0914”(association)	0.350
RTCB	MCRIP1	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAQ	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAZ	HECTD4	psi-mi:“MI:0914”(association)	0.350
	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
	POLRMT	psi-mi:“MI:0914”(association)	0.350
	SUPT5H	psi-mi:“MI:0914”(association)	0.350

BioGRID (66): C2orf49 (Co-fractionation), HNRNPD (Co-fractionation), C2orf49 (Affinity Capture-MS), C2orf49 (Affinity Capture-MS), C2orf49 (Affinity Capture-MS), PNN (Proximity Label-MS), STK39 (Proximity Label-MS), C14orf166 (Proximity Label-MS), C2orf49 (Proximity Label-MS), C2orf49 (Two-hybrid), C2orf49 (Affinity Capture-MS), C2orf49 (Affinity Capture-MS), C2orf49 (Affinity Capture-MS), C2orf49 (Affinity Capture-MS), C2orf49 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2L7I0, A2VDP0, A2YX04, A5D979, B4FM28, B6SLJ0, D3ZVU1, F4I8S3, F4KFC7, F6UH96, G3X912, O01835, Q0J9J6, Q22557, Q24595, Q2HJG4, Q32LR5, Q38796, Q4KM91, Q53WJ1, Q5U3H2, Q65Z40, Q680Q4, Q6E3D5, Q6PI47, Q6Z8M8, Q700C2, Q7KW09, Q7XC57, Q7Y1C4, Q7Y1C5, Q7Z5K2, Q7ZXG4, Q801E2, Q8L840, Q8RY95, Q91W18, Q91ZX6, Q941B6, Q9BVC5

Diamond homologs: A2VDP0, Q32LR5, Q5RJT0, Q5ZK74, Q922M7, Q9BVC5, Q9I8G4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 46 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
G2/M DNA damage checkpoint	5	20.0×	1e-04
SARS-CoV-2 Infection	6	16.1×	5e-05
Transcriptional Regulation by TP53	6	12.4×	1e-04
SARS-CoV Infections	6	11.1×	3e-04
Viral Infection Pathways	9	9.2×	1e-05
Infectious disease	9	7.5×	5e-05
Cell Cycle	6	7.2×	2e-03
Metabolism of RNA	5	7.0×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	3
Uncertain significance	123
Likely benign	61
Benign	13

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
154902	GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1	Pathogenic
57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	Pathogenic
145646	GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1	Likely pathogenic
145956	GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1	Likely pathogenic
562648	GRCh37/hg19 2q12.1-12.2(chr2:104995799-106679055)x1	Likely pathogenic

SpliceAI

862 predictions. Top by Δscore:

Variant	Effect	Δscore
2:105339578:C:A	acceptor_gain	1.0000
2:105339578:CGCA:C	acceptor_loss	1.0000
2:105339579:GCAG:G	acceptor_loss	1.0000
2:105339581:A:AG	acceptor_gain	1.0000
2:105339581:A:AT	acceptor_loss	1.0000
2:105339582:G:GG	acceptor_gain	1.0000
2:105339582:GA:G	acceptor_gain	1.0000
2:105339582:GAA:G	acceptor_gain	1.0000
2:105339582:GAAGA:G	acceptor_gain	1.0000
2:105339745:AAAAG:A	donor_loss	1.0000
2:105339746:AAAGG:A	donor_loss	1.0000
2:105339747:AAGGT:A	donor_loss	1.0000
2:105339748:AGGT:A	donor_loss	1.0000
2:105339749:GGTAC:G	donor_loss	1.0000
2:105339750:GT:G	donor_loss	1.0000
2:105339751:T:A	donor_loss	1.0000
2:105342847:GGA:G	acceptor_gain	1.0000
2:105343050:A:AG	acceptor_gain	1.0000
2:105343060:T:TA	acceptor_gain	1.0000
2:105343065:A:AG	acceptor_gain	1.0000
2:105343221:ATGG:A	donor_loss	1.0000
2:105343222:TGGTA:T	donor_loss	1.0000
2:105343224:G:GA	donor_loss	1.0000
2:105343224:G:GG	donor_gain	1.0000
2:105343225:T:G	donor_loss	1.0000
2:105345390:G:GG	donor_gain	1.0000
2:105339762:G:GA	donor_gain	0.9900
2:105340906:G:T	donor_gain	0.9900
2:105342847:GGAGT:G	acceptor_gain	0.9900
2:105343220:CATG:C	donor_gain	0.9900

AlphaMissense

1530 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:105345363:T:A	W231R	0.999
2:105345363:T:C	W231R	0.999
2:105345365:G:C	W231C	0.998
2:105345365:G:T	W231C	0.998
2:105337649:T:C	L21P	0.997
2:105337663:T:C	F26L	0.997
2:105337665:C:A	F26L	0.997
2:105337665:C:G	F26L	0.997
2:105337652:T:C	L22P	0.996
2:105339640:T:G	Y53D	0.996
2:105337667:T:C	L27P	0.995
2:105337643:C:A	P19Q	0.994
2:105339672:G:C	R63S	0.994
2:105339672:G:T	R63S	0.994
2:105345358:T:A	V229D	0.993
2:105337679:T:C	L31P	0.992
2:105339650:A:C	H56P	0.992
2:105339629:T:C	L49P	0.991
2:105339638:T:C	L52P	0.990
2:105339640:T:A	Y53N	0.990
2:105339694:G:A	G71R	0.990
2:105339694:G:C	G71R	0.990
2:105345349:T:C	I226T	0.990
2:105337664:T:C	F26S	0.989
2:105337667:T:A	L27H	0.989
2:105339652:G:C	A57P	0.989
2:105337637:T:C	L17P	0.988
2:105337642:C:T	P19S	0.988
2:105339693:G:C	W70C	0.988
2:105339693:G:T	W70C	0.988

dbSNP variants (sampled 300 via entrez): RS1000014573 (2:105380865 T>A), RS1000015759 (2:105341255 A>C,G), RS1000033088 (2:105385053 A>G), RS1000045028 (2:105349600 C>G), RS1000109098 (2:105342517 C>A), RS1000138474 (2:105384356 C>G,T), RS1000144104 (2:105378017 A>C), RS1000196850 (2:105378338 G>A), RS1000228403 (2:105335563 T>TAAAAAG), RS1000242434 (2:105349258 G>T), RS1000285835 (2:105385436 G>A), RS1000412217 (2:105363006 A>G,T), RS1000490843 (2:105384027 C>T), RS1000603195 (2:105354606 C>T), RS1000684113 (2:105373719 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (3): dilated cardiomyopathy (MONDO:0005021), cardiomyopathy (MONDO:0004994), arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587)

Orphanet (3): Dilated cardiomyopathy (Orphanet:217604), Rare cardiomyopathy (Orphanet:167848), Inherited arrhythmogenic cardiomyopathy (Orphanet:247)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0001644	Dilated cardiomyopathy

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST005951_42	Body mass index	1.000000e-08
GCST008803_3	Smoking behaviour (cigarette pack-years)	2.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0009115	tobacco smoke exposure measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D019571	Arrhythmogenic Right Ventricular Dysplasia	C14.240.400.145; C14.280.238.028; C14.280.400.145; C16.131.240.400.145
D009202	Cardiomyopathies	C14.280.238
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, affects cotreatment, increases expression, affects expression, decreases expression	6
entinostat	decreases expression, affects cotreatment	2
Benzo(a)pyrene	increases expression	2
Cyclosporine	increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
methylmercuric chloride	increases expression	1
quercitrin	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
coumarin	increases phosphorylation	1
perfluorooctane sulfonic acid	increases expression	1
cylindrospermopsin	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, affects expression	1
Copper	affects binding, decreases expression	1
Disulfiram	affects binding, decreases expression	1
Diuron	decreases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases methylation	1
Testosterone	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00333827	PHASE3	COMPLETED	Cell Therapy In Dilated Cardiomyopathy
NCT00505154	PHASE3	COMPLETED	Effect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703	PHASE3	COMPLETED	PUFAs and Left Ventricular Function in Heart Failure
NCT01583114	PHASE3	TERMINATED	PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081	PHASE3	UNKNOWN	Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181	PHASE3	UNKNOWN	Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514	PHASE3	TERMINATED	A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766	PHASE3	COMPLETED	Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257	PHASE3	RECRUITING	Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT00629018	PHASE2	COMPLETED	Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
NCT00629096	PHASE2	COMPLETED	Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy
NCT00765518	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM)
NCT00847964	PHASE2	COMPLETED	Safety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With DCM Undergoing Open-heart Surgery
NCT01020968	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Catheter-based Cardiac Repair Cell [CRC]) Treatment in Patients With Heart Failure Due to Dilated Cardiomyopathy
NCT01302171	PHASE2	COMPLETED	Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy
NCT01350310	PHASE2	COMPLETED	Safety and Efficacy Study of Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy
NCT02133911	PHASE2	COMPLETED	A Pilot Trial of Ranolazine to Treat Patients With Dilated Cardiomyopathy
NCT03071653	PHASE2	SUSPENDED	Left Cardiac Sympathetic Denervation for Cardiomyopathy Feasibility Pilot Study
NCT03572660	PHASE2	ACTIVE_NOT_RECRUITING	Use of Bone Marrow Derived Stem Cell and G-CSF With Circulatory Assistance in the Treatment of DCM
NCT03775070	PHASE2	COMPLETED	Simvastatin Therapy in Patients With Dilated Cardiomyopathy.
NCT04405804	PHASE2	UNKNOWN	Early Administration of Ivabradine in Children With Heart Failure
NCT05410873	PHASE2	COMPLETED	Examining the Effects of Mitochondrial Oxidative Stress in DCM
NCT06632834	PHASE2	RECRUITING	Outcome-targeted Therapy: Principle and Outcome Evaluation: Clinical Study and Phenotype-genotype Correlation
NCT00585546	PHASE1	TERMINATED	Harefield Recovery Protocol Study for Patients With Refractory Chronic Heart Failure
NCT02293603	PHASE1	UNKNOWN	Dilated cardiomYopathy iNtervention With Allogeneic MyocardIally-regenerative Cells (DYNAMIC)
NCT03062956	PHASE1	COMPLETED	A Single Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of MYK-491
NCT03129568	PHASE1	COMPLETED	Transcoronary Infusion of Cardiac Progenitor Cells in Pediatric Dilated Cardiomyopathy
NCT04982081	PHASE1	UNKNOWN	Treating Congestive HF With hiPSC-CMs Through Endocardial Injection
NCT06381466	PHASE1	TERMINATED	A Study to Investigate Safety, Tolerability, and Pharmacokinetics of Oral AZD0233 Compared With Placebo in Healthy Adult Participants.
NCT06464588	PHASE1	RECRUITING	A Phase 1 Open-Label Study of the Safety of Intravenous Allogeneic Neonatal Mesenchymal Cells (nMSCs) in Young Adult (1A) and Pediatric (1B) Patients With Dilated Cardiomyopathy (DCM)
NCT06902896	PHASE1	COMPLETED	Safety and Efficacy of FAP iCDC in End-stage Dilated Cardiomyopathy
NCT07137338	PHASE1	RECRUITING	A Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy
NCT07241104	PHASE1	RECRUITING	A Study of AZD4063 in PLN R14del Dilated Cardiomyopathy