LAGE3

gene
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Also known as ITBA2CVG5DXS9951EDXS9879EESO3Pcc1

Summary

LAGE3 (L antigen family member 3, HGNC:26058) is a protein-coding gene on chromosome Xq28, encoding EKC/KEOPS complex subunit LAGE3 (Q14657). Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. It is a selective cancer dependency (DepMap: 11.3% of cell lines).

This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9.

Source: NCBI Gene 8270 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): Galloway-Mowat syndrome 2, X-linked (Strong, GenCC) — +1 more curated relationship
  • Clinical variants (ClinVar): 109 total — 3 pathogenic
  • Phenotypes (HPO): 49
  • Druggable target: yes
  • Cancer dependency (DepMap): dependent in 11.3% of screened cell lines
  • MANE Select transcript: NM_006014

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26058
Approved symbolLAGE3
NameL antigen family member 3
LocationXq28
Locus typegene with protein product
StatusApproved
AliasesITBA2, CVG5, DXS9951E, DXS9879E, ESO3, Pcc1
Ensembl geneENSG00000196976
Ensembl biotypeprotein_coding
OMIM300060
Entrez8270

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000357360

RefSeq mRNA: 1 — MANE Select: NM_006014 NM_006014

CCDS: CCDS14753

Canonical transcript exons

ENST00000357360 — 3 exons

ExonStartEnd
ENSE00001408883154478283154478411
ENSE00001431841154478728154479281
ENSE00001929073154477775154478058

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 98.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.4745 / max 179.3704, expressed in 1808 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter IDTPM avgSamples expressed
20102911.01391736
2010289.65231755
2010254.64041453
2010262.23921069
2010321.8785965
2010310.4757275
2010270.3793221
2010300.195281

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
oocyteCL:000002398.23gold quality
secondary oocyteCL:000065595.55gold quality
Brodmann (1909) area 10UBERON:001354194.69gold quality
middle frontal gyrusUBERON:000270293.97gold quality
endometrium epitheliumUBERON:000481193.53gold quality
frontal poleUBERON:000279593.37gold quality
anterior cingulate cortexUBERON:000983592.96gold quality
cingulate cortexUBERON:000302792.93gold quality
Brodmann (1909) area 9UBERON:001354092.41gold quality
nucleus accumbensUBERON:000188291.94gold quality
dorsolateral prefrontal cortexUBERON:000983491.92gold quality
right frontal lobeUBERON:000281091.66gold quality
putamenUBERON:000187491.60gold quality
endothelial cellCL:000011591.55gold quality
amygdalaUBERON:000187691.51gold quality
caudate nucleusUBERON:000187391.35gold quality
prefrontal cortexUBERON:000045190.88gold quality
neocortexUBERON:000195090.75gold quality
frontal cortexUBERON:000187090.61gold quality
cerebral cortexUBERON:000095690.47gold quality
telencephalonUBERON:000189390.19gold quality
pituitary glandUBERON:000000790.14gold quality
Ammon’s hornUBERON:000195490.08gold quality
forebrainUBERON:000189089.95gold quality
temporal lobeUBERON:000187189.64gold quality
paraflocculusUBERON:000535189.63gold quality
adenohypophysisUBERON:000219689.61gold quality
brainUBERON:000095588.95gold quality
central nervous systemUBERON:000101788.91gold quality
left adrenal gland cortexUBERON:003582588.74gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-CURD-112yes9.98
E-ANND-3yes8.78
E-CURD-10no52.21

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting LAGE3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-568899.9673.234504
HSA-MIR-495-3P99.9672.814197
HSA-MIR-365899.9673.874379
HSA-MIR-80299.6167.701254
HSA-MIR-432899.5771.064094
HSA-MIR-548B-3P99.3867.261000
HSA-MIR-20B-3P99.2967.05784
HSA-MIR-488-5P99.2868.12821
HSA-MIR-6840-3P98.6865.951923
HSA-MIR-429098.5165.17907
HSA-MIR-5008-5P98.4265.871019
HSA-MIR-451198.3267.971500
HSA-MIR-56297.6665.63698

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 11.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

  • Upregulation of LAGE3 correlates with prognosis and immune infiltrates in colorectal cancer: A bioinformatic analysis. (PMID:32438075)
  • LAGE3 correlates with tumorigenic immune infiltrates in the clear cell renal cell carcinoma microenvironment. (PMID:32683301)
  • lncRNA NEAT1 regulates the proliferation and migration of hepatocellular carcinoma cells by acting as a miR320a molecular sponge and targeting L antigen family member 3. (PMID:32945386)
  • Identification and validation of L Antigen Family Member 3 as an immune-related biomarker associated with the progression of papillary thyroid cancer. (PMID:33310661)
  • LAGE3 promoted cell proliferation, migration, and invasion and inhibited cell apoptosis of hepatocellular carcinoma by facilitating the JNK and ERK signaling pathway. (PMID:34837962)
  • LAGE3 promotes cell metastasis and stemness in non-small cell lung cancer companied with AKT/PI3K signaling pathway activation. (PMID:37473499)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioENSDARG00000116344
mus_musculusLage3ENSMUSG00000015289
drosophila_melanogasterTcs6FBGN0260224

Paralogs (3): CTAG2 (ENSG00000126890), CTAG1B (ENSG00000184033), CTAG1A (ENSG00000268651)

Protein

Protein identifiers

EKC/KEOPS complex subunit LAGE3Q14657 (reviewed: Q14657)

Alternative names: L antigen family member 3, Protein ESO-3, Protein ITBA2

All UniProt accessions (1): Q14657

UniProt curated annotations — full annotation on UniProt →

Function. Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. LAGE3 functions as a dimerization module for the complex.

Subunit / interactions. Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitous.

Disease relevance. Galloway-Mowat syndrome 2, X-linked (GAMOS2) [MIM:301006] A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the CTAG/PCC1 family.

RefSeq proteins (1): NP_006005* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR015419CTAG/Pcc1Family

Pfam: PF09341

UniProt features (11 total): strand 3, helix 2, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDBMethodResolution (Å)
6GWJX-RAY DIFFRACTION1.95
9FL9ELECTRON MICROSCOPY3.74

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q14657-F176.320.45

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-6782315tRNA modification in the nucleus and cytosol
R-HSA-72306tRNA processing
R-HSA-8953854Metabolism of RNA

MSigDB gene sets: 231 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, KAAB_FAILED_HEART_ATRIUM_DN, PAL_PRMT5_TARGETS_UP, GOBP_TRNA_METABOLIC_PROCESS, RIZKI_TUMOR_INVASIVENESS_3D_DN, PATIL_LIVER_CANCER, GOBP_TRANSLATION, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOBP_TRNA_THREONYLCARBAMOYLADENOSINE_METABOLIC_PROCESS, HAN_SATB1_TARGETS_DN, MARKEY_RB1_ACUTE_LOF_UP, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, DANG_BOUND_BY_MYC, CONCANNON_APOPTOSIS_BY_EPOXOMICIN_DN

GO Biological Process (2): tRNA processing (GO:0008033), tRNA threonylcarbamoyladenosine metabolic process (GO:0070525)

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

GO Cellular Component (5): EKC/KEOPS complex (GO:0000408), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear body (GO:0016604)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
tRNA processing1
Metabolism of RNA1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
tRNA metabolic process2
cellular anatomical structure2
RNA processing1
binding1
transferase complex1
intracellular membrane-bounded organelle1
nuclear lumen1
intracellular anatomical structure1
nucleoplasm1
intracellular membraneless organelle1

Protein interactions and networks

STRING

598 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
LAGE3OSGEPQ9NPF4998
LAGE3TPRKBQ9Y3C4998
LAGE3TP53RKQ96S44997
LAGE3GON7Q9BXV9995
LAGE3TMEM187Q14656943
LAGE3OSGEPL1Q9H4B0852
LAGE3YRDCQ86U90846
LAGE3L1CAMP32004669
LAGE3HCFC1P51610666
LAGE3WDR73Q6P4I2628
LAGE3FAM216AQ8WUB2497
LAGE3TMEM101Q96IK0445
LAGE3SLCO6A1Q86UG4432
LAGE3CTAG2O75638430
LAGE3RPP40O75818374

IntAct

124 interactions, top by confidence:

ABTypeScore
UBA5GABARAPL2psi-mi:“MI:0914”(association)0.950
LAGE3GON7psi-mi:“MI:0915”(physical association)0.880
GON7LAGE3psi-mi:“MI:0915”(physical association)0.880
LAGE3GON7psi-mi:“MI:0407”(direct interaction)0.880
GON7LAGE3psi-mi:“MI:0407”(direct interaction)0.880
GON7LAGE3psi-mi:“MI:0914”(association)0.880
LAGE3OSGEPpsi-mi:“MI:0915”(physical association)0.850
POP7LAGE3psi-mi:“MI:0915”(physical association)0.740
KRT40LAGE3psi-mi:“MI:0915”(physical association)0.720
LAGE3KRT40psi-mi:“MI:0915”(physical association)0.720
IFT81NDC80psi-mi:“MI:0914”(association)0.640
NAP1L5IQGAP1psi-mi:“MI:0914”(association)0.640
VWCEHSPA5psi-mi:“MI:0914”(association)0.640
PSMB9LAGE3psi-mi:“MI:0915”(physical association)0.600
LAGE3PDE9Apsi-mi:“MI:0915”(physical association)0.560
PDE9ALAGE3psi-mi:“MI:0915”(physical association)0.560
KRTAP10-8LAGE3psi-mi:“MI:0915”(physical association)0.560
KRTAP6-3LAGE3psi-mi:“MI:0915”(physical association)0.560
GOLGA6L9LAGE3psi-mi:“MI:0915”(physical association)0.560
LAGE3MID2psi-mi:“MI:0915”(physical association)0.560

BioGRID (148): LAGE3 (Two-hybrid), KRT40 (Two-hybrid), LAGE3 (Affinity Capture-MS), LAGE3 (Affinity Capture-MS), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Affinity Capture-MS)

ESM2 similar proteins: A0JPP1, A1A4I4, A1A5B6, A4K436, A6QQ14, A6QQ47, C5IJB0, E1BSW7, O00459, O04173, O08908, O14908, O35465, P23726, P70268, Q12962, Q14318, Q14657, Q14919, Q16512, Q17QX2, Q1JQD7, Q32NY4, Q3B7U9, Q3MII6, Q3V1H9, Q496Y0, Q4R4E4, Q5C9Z4, Q5RE34, Q5XIU9, Q5ZIW1, Q63433, Q63788, Q6K461, Q6PZ03, Q6ZT62, Q7Z6J2, Q8CFK2, Q8HXH0

Diamond homologs: O75638, P78358, Q14657, Q9CR70, Q10220, Q6BNU4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic3
Likely pathogenic0
Uncertain significance56
Likely benign18
Benign10

Top pathogenic / likely-pathogenic (3)

Variant IDHGVSClassification
444871NM_006014.5(LAGE3):c.316G>T (p.Val106Phe)Pathogenic
444872NM_006014.5(LAGE3):c.410T>C (p.Phe137Ser)Pathogenic
444873NM_006014.5(LAGE3):c.188+1G>APathogenic

SpliceAI

350 predictions. Top by Δscore:

VariantEffectΔscore
X:154478056:CGG:Cacceptor_gain1.0000
X:154478057:GG:Gacceptor_gain1.0000
X:154478059:C:CCacceptor_gain1.0000
X:154478054:AGCGG:Aacceptor_gain0.9900
X:154478055:GCGG:Gacceptor_gain0.9900
X:154478056:CGGC:Cacceptor_gain0.9900
X:154478058:GC:Gacceptor_loss0.9900
X:154478059:C:CAacceptor_loss0.9900
X:154478060:T:Gacceptor_loss0.9900
X:154478065:G:Cacceptor_gain0.9900
X:154478065:G:GCacceptor_gain0.9900
X:154478667:T:Adonor_gain0.9800
X:154478753:C:CAdonor_gain0.9800
X:154479036:AGGTC:Adonor_gain0.9800
X:154479040:C:Adonor_gain0.9700
X:154478726:A:ACdonor_gain0.9600
X:154478727:C:CCdonor_gain0.9600
X:154479134:T:Adonor_gain0.9500
X:154478721:AGGAT:Adonor_loss0.9400
X:154478722:GGATA:Gdonor_loss0.9400
X:154478723:GAT:Gdonor_loss0.9400
X:154478724:ATA:Adonor_loss0.9400
X:154478725:T:TGdonor_loss0.9400
X:154478057:G:Tacceptor_gain0.9300
X:154478382:A:Tacceptor_gain0.9300
X:154478727:CA:Cdonor_gain0.9300
X:154478727:CAAT:Cdonor_gain0.9300
X:154478748:TG:Tdonor_gain0.9300
X:154478727:CAA:Cdonor_gain0.9100
X:154479164:A:Cdonor_gain0.9000

AlphaMissense

910 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
X:154478367:G:TA78D0.977
X:154477965:A:CF137L0.974
X:154477965:A:TF137L0.974
X:154477967:A:GF137L0.974
X:154478393:G:CF69L0.966
X:154478393:G:TF69L0.966
X:154478395:A:GF69L0.966
X:154478054:A:GW108R0.960
X:154478054:A:TW108R0.960
X:154478394:A:GF69S0.956
X:154478377:C:GA75P0.955
X:154478315:C:AK95N0.939
X:154478315:C:GK95N0.939
X:154478017:A:TV120D0.938
X:154478394:A:CF69C0.933
X:154478400:A:TV67E0.932
X:154478052:C:AW108C0.929
X:154478052:C:GW108C0.929
X:154478053:C:GW108S0.927
X:154478007:A:CF123L0.925
X:154478007:A:TF123L0.925
X:154478009:A:GF123L0.925
X:154478048:C:GA110P0.920
X:154478370:A:CI77S0.909
X:154478283:A:TV106D0.902
X:154478395:A:TF69I0.899
X:154478411:G:CF63L0.898
X:154478411:G:TF63L0.898
X:154478729:A:GF63L0.898
X:154478008:A:GF123S0.895

dbSNP variants (sampled 300 via entrez): RS1000807733 (X:154478970 C>A), RS10011 (X:154477866 C>A,T), RS1001156590 (X:154478865 G>A,T), RS1002426504 (X:154477651 C>G), RS1003253315 (X:154481112 C>T), RS1005605707 (X:154479924 T>C), RS1007283352 (X:154478476 C>T), RS1012023429 (X:154478883 G>A), RS1013026504 (X:154480488 C>T), RS1013075516 (X:154480960 C>A,T), RS1013730007 (X:154477684 A>C,T), RS1013782347 (X:154477971 C>A,T), RS1018277707 (X:154479646 A>G), RS1018290595 (X:154479931 T>C), RS1020897902 (X:154478604 C>G,T)

Disease associations

OMIM: gene MIM:300060 | disease phenotypes: MIM:301006, MIM:300908, MIM:302060

GenCC curated gene-disease

DiseaseClassificationInheritance
Galloway-Mowat syndrome 2, X-linkedStrongX-linked
Galloway-Mowat syndromeSupportiveAutosomal recessive

Mondo (4): Galloway-Mowat syndrome 2, X-linked (MONDO:0033006), anemia, nonspherocytic hemolytic, due to G6PD deficiency (MONDO:0010480), Barth syndrome (MONDO:0010543), Galloway-Mowat syndrome (MONDO:0009627)

Orphanet (2): Barth syndrome (Orphanet:111), Class I glucose-6-phosphate dehydrogenase deficiency (Orphanet:466026)

HPO phenotypes

49 total (30 of 49 shown, HPO-id order):

HPOTerm
HP:0000093Proteinuria
HP:0000097Focal segmental glomerulosclerosis
HP:0000100Nephrotic syndrome
HP:0000112Nephropathy
HP:0000164Abnormality of the dentition
HP:0000218High palate
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000341Narrow forehead
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000565Esotropia
HP:0000601Hypotelorism
HP:0000639Nystagmus
HP:0000750Delayed speech and language development
HP:0001166Arachnodactyly
HP:0001181Adducted thumb
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001272Cerebellar atrophy
HP:0001276Hypertonia
HP:0001302Pachygyria
HP:0001310Dysmetria
HP:0001419X-linked recessive inheritance
HP:0001511Intrauterine growth retardation
HP:0001622Premature birth
HP:0002036Hiatus hernia

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

DescriptorNameTree numbers
D056889Barth SyndromeC14.240.400.172; C14.280.400.172; C16.131.077.121; C16.131.240.400.172; C16.320.322.068; C16.320.565.398.224; C18.452.584.563.224; C18.452.648.398.224
C567533Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (supp.)
C537548Galloway Mowat syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066468 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, increases expression2
Acetaminophenincreases expression, affects response to substance2
Phenylmercuric Acetatedecreases expression, affects cotreatment2
Valproic Acidaffects expression, decreases expression2
2,4,6-tribromophenoldecreases expression1
bisphenol Adecreases expression1
methylselenic aciddecreases expression1
decabromobiphenyl etherdecreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
mono-(2-ethylhexyl)phthalatedecreases expression1
tetrabromobisphenol Adecreases expression1
potassium chromate(VI)decreases expression1
2,3-bis(3’-hydroxybenzyl)butyrolactoneaffects cotreatment, increases expression1
di-n-butylphosphoric acidaffects expression1
azoxystrobinincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamidedecreases expression, affects cotreatment1
pyrachlostrobinincreases expression1
dorsomorphinaffects cotreatment, decreases expression1
hexabrominated diphenyl ether 153decreases expression1
jinfukangincreases expression1
Sunitinibdecreases expression1
Benzo(a)pyreneaffects methylation1
Cisplatinincreases expression1
Coumestrolaffects cotreatment, increases expression1
Methotrexatedecreases expression1
Smokedecreases expression1
Testosteroneincreases expression1
Dronabinoldecreases expression1
Thiramdecreases expression1
Tobacco Smoke Pollutionincreases expression1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5651676BindingBinding affinity to human LAGE3 incubated for 45 mins by Kinobead based pull down assayNVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT07531251PHASE4NOT_YET_RECRUITINGClinical Trial in Patients With Barth Syndrome- 4TAZPower
NCT03098797PHASE2/PHASE3COMPLETEDA Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome
NCT01194141Not specifiedCOMPLETEDExercise Training in Barth Syndrome
NCT01461304Not specifiedNO_LONGER_AVAILABLECompassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
NCT01625663Not specifiedCOMPLETEDHeart and Muscle Metabolism in Barth Syndrome
NCT01629459Not specifiedCOMPLETEDResistance Exercise in Barth Syndrome
NCT03655223Not specifiedENROLLING_BY_INVITATIONEarly Check: Expanded Screening in Newborns
NCT04689360Not specifiedAVAILABLEAn Intermediate Size Expanded Access Protocol of Elamipretide
NCT05554835Not specifiedRECRUITINGGlobal Registry and Natural History Study for Mitochondrial Disorders