C10orf71
geneOn this page
Also known as FLJ45913CEFIP
Summary
C10orf71 (chromosome 10 open reading frame 71, HGNC:26973) is a protein-coding gene on chromosome 10q11.23, encoding Cardiac-enriched FHL2-interacting protein (Q711Q0). Is an activator of the calcineurin/NFAT signaling pathway in cardiomyocytes, and is involved in myocardium morphogenesis, and regulation of myocardium mass and cardiac contractile function.
Predicted to be involved in positive regulation of calcineurin-NFAT signaling cascade. Predicted to act upstream of or within cardiac muscle cell contraction; cardiac muscle cell differentiation; and heart morphogenesis. Predicted to be located in cytoplasm. Predicted to be active in Z disc.
Source: NCBI Gene 118461 — RefSeq curated summary.
At a glance
- Gene–disease (curated): dilated cardiomyopathy (Limited, GenCC)
- GWAS associations: 4
- Clinical variants (ClinVar): 34 total — 4 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 8
- MANE Select transcript:
NM_001135196
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26973 |
| Approved symbol | C10orf71 |
| Name | chromosome 10 open reading frame 71 |
| Location | 10q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ45913, CEFIP |
| Ensembl gene | ENSG00000177354 |
| Ensembl biotype | protein_coding |
| OMIM | 621202 |
| Entrez | 118461 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000374144, ENST00000470615, ENST00000862410, ENST00000862411, ENST00000950697
RefSeq mRNA: 1 — MANE Select: NM_001135196
NM_001135196
CCDS: CCDS44387
Canonical transcript exons
ENST00000374144 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001462586 | 49322402 | 49327492 |
| ENSE00001646488 | 49316145 | 49316247 |
| ENSE00001901319 | 49299170 | 49299233 |
Expression profiles
Bgee: expression breadth ubiquitous, 112 present calls, max score 98.25.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.4107 / max 329.7076, expressed in 113 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 104881 | 0.4070 | 63 |
| 104880 | 0.2906 | 63 |
| 104882 | 0.2195 | 38 |
| 104883 | 0.2081 | 29 |
| 104885 | 0.1481 | 34 |
| 104884 | 0.0938 | 26 |
| 104879 | 0.0436 | 24 |
Top tissues by expression
236 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.25 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.85 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.47 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.38 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.91 | gold quality |
| quadriceps femoris | UBERON:0001377 | 96.89 | gold quality |
| vastus lateralis | UBERON:0001379 | 96.80 | gold quality |
| biceps brachii | UBERON:0001507 | 96.47 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.21 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 95.44 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.10 | gold quality |
| deltoid | UBERON:0001476 | 94.55 | gold quality |
| apex of heart | UBERON:0002098 | 94.14 | gold quality |
| muscle of leg | UBERON:0001383 | 93.82 | gold quality |
| body of tongue | UBERON:0011876 | 92.43 | gold quality |
| muscle tissue | UBERON:0002385 | 91.34 | gold quality |
| myocardium | UBERON:0002349 | 90.26 | gold quality |
| heart left ventricle | UBERON:0002084 | 88.60 | gold quality |
| cardiac ventricle | UBERON:0002082 | 88.41 | gold quality |
| tongue | UBERON:0001723 | 82.91 | gold quality |
| cardiac atrium | UBERON:0002081 | 82.62 | gold quality |
| right atrium auricular region | UBERON:0006631 | 81.96 | gold quality |
| heart | UBERON:0000948 | 81.24 | gold quality |
| heart right ventricle | UBERON:0002080 | 79.32 | gold quality |
| superior surface of tongue | UBERON:0007371 | 75.79 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 74.36 | gold quality |
| kidney epithelium | UBERON:0004819 | 71.88 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 69.08 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 66.91 | gold quality |
| vena cava | UBERON:0004087 | 66.71 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.45 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 3)
- Data suggest that CEFIP (cardiac-enriched FHL2-interacting protein) interacts with FHL2 (four and a half LIM domains protein-2) and modulates calcineurin signaling in cardiomyocytes; CEFIP is located at sarcomeric z-disc and is up-regulated in several models of cardiomegaly. (PMID:28717008)
- Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene. (PMID:37179318)
- Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. (PMID:38950288)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | 3425401B19Rik | ENSMUSG00000071540 |
| rattus_norvegicus | C16h10orf71 | ENSRNOG00000049942 |
Protein
Protein identifiers
Cardiac-enriched FHL2-interacting protein — Q711Q0 (reviewed: Q711Q0)
All UniProt accessions (1): Q711Q0
UniProt curated annotations — full annotation on UniProt →
Function. Is an activator of the calcineurin/NFAT signaling pathway in cardiomyocytes, and is involved in myocardium morphogenesis, and regulation of myocardium mass and cardiac contractile function.
Subunit / interactions. Interacts with FHL2.
Subcellular location. Cytoplasm. Myofibril. Sarcomere. Z line.
Tissue specificity. Expressed in the heart and skeletal muscle.
Disease relevance. Cardiomyopathy, dilated, 1QQ (CMD1QQ) [MIM:621251] A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1QQ is an autosomal dominant form. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q711Q0-1 | 1 | yes |
| Q711Q0-3 | 3 |
RefSeq proteins (1): NP_001128668* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027838 | DUF4585 | Domain |
| IPR052303 | CEFIP | Family |
Pfam: PF15232
UniProt features (54 total): compositionally biased region 18, sequence variant 12, region of interest 10, sequence conflict 7, modified residue 4, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q711Q0-F1 | 42.08 | 0.02 |
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 (4): 120, 323, 470, 816
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 48 (showing top):
GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, MEF2_02, GOBP_POSITIVE_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, HAND1E47_01, OCT1_B, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, MEF2_Q6_01, CTAWWWATA_RSRFC4_Q2, GOCC_I_BAND, WGGAATGY_TEF1_Q6, VDR_Q6, OCT_Q6, GRYDER_PAX3FOXO1_ENHANCERS_KO_DOWN, GOBP_CALCINEURIN_MEDIATED_SIGNALING
GO Biological Process (5): heart morphogenesis (GO:0003007), cardiac muscle cell differentiation (GO:0055007), positive regulation of calcineurin-NFAT signaling cascade (GO:0070886), cardiac muscle cell contraction (GO:0086003), heart development (GO:0007507)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): Z disc (GO:0030018), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| heart development | 1 |
| animal organ morphogenesis | 1 |
| cardiocyte differentiation | 1 |
| cardiac muscle tissue development | 1 |
| striated muscle cell differentiation | 1 |
| calcineurin-NFAT signaling cascade | 1 |
| regulation of calcineurin-NFAT signaling cascade | 1 |
| positive regulation of calcineurin-mediated signaling | 1 |
| cardiac muscle contraction | 1 |
| actin-mediated cell contraction | 1 |
| animal organ development | 1 |
| circulatory system development | 1 |
| binding | 1 |
| I band | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2596 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| C10orf71 | FHL2 | Q14192 | 526 |
| C10orf71 | SIPA1L3 | O60292 | 525 |
| C10orf71 | OBSL1 | O75147 | 523 |
| C10orf71 | ANO8 | Q9HCE9 | 521 |
| C10orf71 | ENOX1 | Q8TC92 | 518 |
| C10orf71 | ARHGAP28 | Q9P2N2 | 512 |
| C10orf71 | SPAG11A | Q6PDA7 | 507 |
| C10orf71 | TM9SF4 | Q92544 | 496 |
| C10orf71 | MYO18B | Q8IUG5 | 473 |
| C10orf71 | LIPN | Q5VXI9 | 458 |
| C10orf71 | A0A0G2JN59 | A0A0G2JN59 | 419 |
| C10orf71 | DYNLT4 | Q5JR98 | 417 |
| C10orf71 | DALRD3 | Q5D0E6 | 399 |
| C10orf71 | RNF133 | Q8WVZ7 | 398 |
| C10orf71 | SPIN4 | Q56A73 | 377 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CEFIP | PCNA | psi-mi:“MI:0915”(physical association) | 0.370 |
| CEFIP | FNTA | psi-mi:“MI:0914”(association) | 0.350 |
| CEFIP | FGF1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (16): DYRK1B (Affinity Capture-MS), DYRK1A (Affinity Capture-MS), DCAF7 (Affinity Capture-MS), FNTB (Affinity Capture-MS), FNTA (Affinity Capture-MS), C10orf71 (Affinity Capture-MS), FNTB (Affinity Capture-MS), DCAF7 (Affinity Capture-MS), DYRK1A (Affinity Capture-MS), DYRK1B (Affinity Capture-MS), FNTA (Affinity Capture-MS), FGF1 (Affinity Capture-MS), MAP7D3 (Cross-Linking-MS (XL-MS)), C10orf71 (Cross-Linking-MS (XL-MS)), C10orf71 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A096MK47, A0JNH1, A6H5Y1, A6NCI8, A6NFA0, A6NGG8, B2RQL2, D3Z1D3, D3ZMK9, E9Q286, E9Q309, M0RD54, O14513, P51816, Q01613, Q03172, Q05860, Q2M2Z5, Q32LN6, Q3MHH3, Q3UXL4, Q3V0A6, Q569L8, Q571I4, Q5DTX6, Q5FW52, Q5HYW2, Q5R9I1, Q5VT06, Q5VWP3, Q60988, Q66HG9, Q68DA7, Q6P1W5, Q6P9P0, Q6PAC4, Q6PG16, Q711Q0, Q7TP36, Q7TSA6
Diamond homologs: D3Z1D3, M0RD54, Q711Q0, D6RIA3, E0CYV9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 1 |
| Uncertain significance | 18 |
| Likely benign | 1 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3906944 | C10ORF71, 16-BP DEL, NT1057 | Pathogenic |
| 3906945 | NM_001135196.2(C10orf71):c.1095del (p.Ser367fs) | Pathogenic |
| 3906946 | NM_001135196.2(C10orf71):c.1914del (p.Glu638fs) | Pathogenic |
| 3906947 | NM_001135196.2(C10orf71):c.353dup (p.Pro119fs) | Pathogenic |
| 4531453 | NM_001135196.2(C10orf71):c.1399C>T (p.Arg467Ter) | Likely pathogenic |
SpliceAI
672 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:49316244:ACAG:A | donor_gain | 0.9900 |
| 10:49316143:A:AG | acceptor_gain | 0.9800 |
| 10:49316143:AGATG:A | acceptor_gain | 0.9800 |
| 10:49316144:G:GG | acceptor_gain | 0.9800 |
| 10:49316144:GATGG:G | acceptor_gain | 0.9800 |
| 10:49316243:AACAG:A | donor_loss | 0.9800 |
| 10:49316245:CAG:C | donor_loss | 0.9800 |
| 10:49316246:AG:A | donor_loss | 0.9800 |
| 10:49316247:GGTAT:G | donor_loss | 0.9800 |
| 10:49316248:G:C | donor_loss | 0.9800 |
| 10:49316249:T:A | donor_loss | 0.9800 |
| 10:49316139:TTCCA:T | acceptor_loss | 0.9700 |
| 10:49316141:CCA:C | acceptor_loss | 0.9700 |
| 10:49316143:A:G | acceptor_loss | 0.9700 |
| 10:49316144:G:GC | acceptor_loss | 0.9700 |
| 10:49322401:GA:G | acceptor_gain | 0.9700 |
| 10:49316143:AGAT:A | acceptor_gain | 0.9600 |
| 10:49316144:GATG:G | acceptor_gain | 0.9600 |
| 10:49322400:A:AG | acceptor_gain | 0.9600 |
| 10:49322401:G:GG | acceptor_gain | 0.9600 |
| 10:49316144:GAT:G | acceptor_gain | 0.9500 |
| 10:49322399:CAG:C | acceptor_gain | 0.9500 |
| 10:49322400:AGA:A | acceptor_gain | 0.9500 |
| 10:49322401:GAG:G | acceptor_gain | 0.9500 |
| 10:49322401:GAGAA:G | acceptor_gain | 0.9500 |
| 10:49322401:GAGA:G | acceptor_gain | 0.9300 |
| 10:49299229:TTTAG:T | donor_loss | 0.9100 |
| 10:49299230:TTAG:T | donor_loss | 0.9100 |
| 10:49299231:TAGGT:T | donor_loss | 0.9100 |
| 10:49299232:AGGTA:A | donor_loss | 0.9100 |
AlphaMissense
9420 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:49322640:T:C | L32P | 0.996 |
| 10:49322649:G:C | R35P | 0.996 |
| 10:49322655:T:C | F37S | 0.996 |
| 10:49326063:T:A | V1173D | 0.996 |
| 10:49326090:G:C | R1182P | 0.996 |
| 10:49322654:T:C | F37L | 0.995 |
| 10:49322656:C:A | F37L | 0.995 |
| 10:49322656:C:G | F37L | 0.995 |
| 10:49326093:G:C | R1183P | 0.995 |
| 10:49322651:G:C | A36P | 0.994 |
| 10:49322982:T:C | L146P | 0.993 |
| 10:49323350:T:C | F269L | 0.993 |
| 10:49323352:T:A | F269L | 0.993 |
| 10:49323352:T:G | F269L | 0.993 |
| 10:49324065:G:C | R507P | 0.993 |
| 10:49326087:T:C | L1181P | 0.993 |
| 10:49326375:T:C | L1277P | 0.993 |
| 10:49322660:A:C | S39R | 0.992 |
| 10:49322662:T:A | S39R | 0.992 |
| 10:49322662:T:G | S39R | 0.992 |
| 10:49322993:T:C | F150L | 0.992 |
| 10:49322995:C:A | F150L | 0.992 |
| 10:49322995:C:G | F150L | 0.992 |
| 10:49324074:T:A | V510D | 0.992 |
| 10:49326075:C:T | T1177I | 0.992 |
| 10:49326095:G:C | A1184P | 0.992 |
| 10:49323359:A:C | S272R | 0.991 |
| 10:49323361:T:A | S272R | 0.991 |
| 10:49323361:T:G | S272R | 0.991 |
| 10:49324053:T:C | L503P | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000097504 (10:49302945 T>C), RS1000106652 (10:49320607 A>C,T), RS1000168168 (10:49301622 C>T), RS1000171062 (10:49325027 G>A,C,T), RS1000182534 (10:49313901 G>A), RS1000365254 (10:49308168 G>C,T), RS1000379148 (10:49325820 A>C), RS1000552214 (10:49296322 G>A,C), RS1000623241 (10:49314204 A>C), RS1000916106 (10:49326237 A>G,T), RS1000993499 (10:49318771 A>C,G), RS1001219669 (10:49312739 C>A), RS1001391775 (10:49306999 C>G), RS1001441046 (10:49297692 T>A), RS1001522557 (10:49319464 C>T)
Disease associations
OMIM: gene MIM:621202 | disease phenotypes: MIM:621251
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| dilated cardiomyopathy | Limited | Autosomal dominant |
Mondo (2): dilated cardiomyopathy (MONDO:0005021), cardiomyopathy, dilated, 1QQ (MONDO:0979239)
Orphanet (1): Dilated cardiomyopathy (Orphanet:217604)
HPO phenotypes
8 total (8 of 8 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0003621 | Juvenile onset |
| HP:0011462 | Young adult onset |
| HP:0011664 | Left ventricular noncompaction cardiomyopathy |
| HP:0012663 | Mildly reduced left ventricular ejection fraction |
| HP:0012666 | Severely reduced left ventricular ejection fraction |
| HP:0034307 | Elevated left ventricular end-diastolic diameter |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001834_4 | Oleic acid (18:1n-9) levels | 5.000000e-06 |
| GCST002446_3 | Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) | 5.000000e-06 |
| GCST010320_15 | PR interval | 9.000000e-10 |
| GCST010321_21 | PR interval | 3.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005680 | omega-6 polyunsaturated fatty acid measurement |
| EFO:0004462 | PR interval |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| 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
8 total (human), top 8 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, increases methylation | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | increases methylation | 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 |
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Related Atlas pages
- Associated diseases: dilated cardiomyopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cardiomyopathy, dilated, 1QQ, dilated cardiomyopathy