PYROXD2

Summary

PYROXD2 (pyridine nucleotide-disulphide oxidoreductase domain 2, HGNC:23517) is a protein-coding gene on chromosome 10q24.2, encoding Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 (Q8N2H3). Probable oxidoreductase that may play a role as regulator of mitochondrial function.

Predicted to enable oxidoreductase activity. Involved in mitochondrion organization. Located in mitochondrial matrix.

Source: NCBI Gene 84795 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Limited, GenCC)
• GWAS associations: 27
• Clinical variants (ClinVar): 119 total
• MANE Select transcript: NM_032709

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23517
Approved symbol	PYROXD2
Name	pyridine nucleotide-disulphide oxidoreductase domain 2
Location	10q24.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23849
Ensembl gene	ENSG00000119943
Ensembl biotype	protein_coding
OMIM	617889
Entrez	84795

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000370575, ENST00000462874, ENST00000464808, ENST00000483923, ENST00000494941, ENST00000906252, ENST00000906253, ENST00000906254, ENST00000965722, ENST00000965723

RefSeq mRNA: 1 — MANE Select: NM_032709 NM_032709

CCDS: CCDS7474

Canonical transcript exons

ENST00000370575 — 16 exons

Exon	Start	End
ENSE00000933130	98388354	98388508
ENSE00000933132	98391010	98391082
ENSE00001019639	98410939	98410958
ENSE00001453066	98415009	98415182
ENSE00003493836	98395391	98395452
ENSE00003527157	98392432	98392566
ENSE00003549572	98383568	98383868
ENSE00003565356	98392942	98393083
ENSE00003571403	98384947	98385067
ENSE00003621463	98387201	98387307
ENSE00003639055	98395196	98395293
ENSE00003653275	98407582	98407655
ENSE00003662292	98390598	98390754
ENSE00003663037	98397345	98397498
ENSE00003671411	98400102	98400257
ENSE00003690174	98407904	98407997

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 95.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9765 / max 93.5236, expressed in 1409 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110964	5.5322	1356
110965	1.4444	915

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.19	gold quality
nasal cavity epithelium	UBERON:0005384	92.60	gold quality
right adrenal gland cortex	UBERON:0035827	91.97	gold quality
right adrenal gland	UBERON:0001233	91.84	gold quality
kidney epithelium	UBERON:0004819	91.79	silver quality
adrenal cortex	UBERON:0001235	90.93	gold quality
left adrenal gland cortex	UBERON:0035825	90.92	gold quality
left adrenal gland	UBERON:0001234	90.61	gold quality
saliva-secreting gland	UBERON:0001044	90.54	gold quality
minor salivary gland	UBERON:0001830	90.50	gold quality
endocervix	UBERON:0000458	90.49	gold quality
tibial nerve	UBERON:0001323	90.38	gold quality
apex of heart	UBERON:0002098	90.07	gold quality
left ovary	UBERON:0002119	89.89	gold quality
granulocyte	CL:0000094	89.75	gold quality
buccal mucosa cell	CL:0002336	89.70	gold quality
left ventricle myocardium	UBERON:0006566	89.52	gold quality
right lobe of thyroid gland	UBERON:0001119	89.49	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.47	gold quality
right ovary	UBERON:0002118	89.30	gold quality
parotid gland	UBERON:0001831	89.02	gold quality
left lobe of thyroid gland	UBERON:0001120	89.01	gold quality
cerebellar hemisphere	UBERON:0002245	88.66	gold quality
spleen	UBERON:0002106	88.60	gold quality
thyroid gland	UBERON:0002046	88.59	gold quality
adrenal gland	UBERON:0002369	88.48	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.27	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.26	gold quality
cerebellar cortex	UBERON:0002129	88.25	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.20	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-81608	yes	14.08
E-ANND-3	yes	3.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting PYROXD2, 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-4778-3P	99.93	70.40	1818
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-3614-5P	99.30	65.25	837
HSA-MIR-1843	98.97	66.07	838
HSA-MIR-4802-5P	98.97	66.26	833
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-3945	98.68	64.21	553
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-6742-3P	97.95	64.50	1490
HSA-MIR-526B-5P	97.41	67.99	1074
HSA-MIR-3974	96.56	66.22	928

Literature-anchored findings (GeneRIF, showing 2)

• MZF1 gene expression was not significantly correlated with PYROXD2 protein expression in the samples of resected tumor tissues, which revealed that the PYROXD2 promoter transcription activity was determined by the aggregated effect of numerous transcription factors. This finding may be helpful in understanding the underlying mechanism which regulates the PYROXD2 expression. (PMID:29048625)
• data illustrated that PYROXD2 localizes to the mitochondrial inner membrane/matrix, and it plays important roles in regulating mitochondrial function. (PMID:31170524)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pyroxd2	ENSMUSG00000060224
rattus_norvegicus	Pyroxd2	ENSRNOG00000015807
caenorhabditis_elegans		WBGENE00018146

Paralogs (2): RETSAT (ENSG00000042445), BLOC1S2 (ENSG00000196072)

Protein

Protein identifiers

Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 — Q8N2H3 (reviewed: Q8N2H3)

All UniProt accessions (3): Q8N2H3, A0A8V8TN71, A0A8V8TPH0

UniProt curated annotations — full annotation on UniProt →

Function. Probable oxidoreductase that may play a role as regulator of mitochondrial function.

Subunit / interactions. Interacts with COX5B; this interaction may contribute to localize PYROXD2 to the inner face of the inner mitochondrial membrane.

Subcellular location. Mitochondrion matrix.

Similarity. Belongs to the carotenoid/retinoid oxidoreductase family.

RefSeq proteins (1): NP_116098* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002937	Amino_oxidase	Domain
IPR036188	FAD/NAD-bd_sf	Homologous_superfamily

Pfam: PF01593, PF13450

UniProt features (5 total): sequence variant 3, chain 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N2H3-F1	91.56	0.82

Functional residue map

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

Ligand- & substrate-binding residues (1): 38–71

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 52 (showing top): ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, HEIDENBLAD_AMPLICON_8Q24_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, ROZANOV_MMP14_TARGETS_UP, MODULE_206, SUZUKI_RESPONSE_TO_TSA_AND_DECITABINE_1A, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_DN, GOCC_MITOCHONDRIAL_MATRIX, MIKKELSEN_ES_ICP_WITH_H3K4ME3, LIM_MAMMARY_STEM_CELL_DN, CSR_LATE_UP.V1_DN, STK33_SKM_DN, GREB1_TARGET_GENES, NFKBIA_TARGET_GENES

GO Biological Process (1): mitochondrion organization (GO:0007005)

GO Molecular Function (2): oxidoreductase activity (GO:0016491), protein binding (GO:0005515)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
organelle organization	1
catalytic activity	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1383 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PYROXD2	NAT8	Q9UHE5	624
PYROXD2	COX5B	P10606	504
PYROXD2	TPD52L2	O43399	435
PYROXD2	LZIC	Q8WZA0	425
PYROXD2	LRCH3	Q96II8	399
PYROXD2	THEM4	Q5T1C6	382
PYROXD2	AGXT2	Q9BYV1	381
PYROXD2	SPATA4	Q8NEY3	381
PYROXD2	SIPA1L3	O60292	373
PYROXD2	UTP14C	Q5TAP6	372
PYROXD2	ACADS	P16219	365
PYROXD2	SLC10A7	Q0GE19	362
PYROXD2	AASDH	Q4L235	356
PYROXD2	GASK1B	Q6UWH4	352
PYROXD2	COQ3	Q9NZJ6	349
PYROXD2	HMGCR	P04035	349

IntAct

11 interactions, top by confidence:

A	B	Type	Score
PYROXD2	APPBP2	psi-mi:“MI:0915”(physical association)	0.560
SLC31A1	PRORP	psi-mi:“MI:0914”(association)	0.530
PYROXD2	MYL4	psi-mi:“MI:0915”(physical association)	0.370
PYROXD2	CSNK2B	psi-mi:“MI:0915”(physical association)	0.370
	DENND11	psi-mi:“MI:0914”(association)	0.350
	NUDT19	psi-mi:“MI:0914”(association)	0.350
GPR45	VWA8	psi-mi:“MI:0914”(association)	0.350
CD80	RIMOC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): PYROXD2 (Two-hybrid), PYROXD2 (Two-hybrid), PYROXD2 (Synthetic Lethality), PYROXD2 (Affinity Capture-MS), PYROXD2 (Affinity Capture-MS), PYROXD2 (Affinity Capture-MS), PYROXD2 (Affinity Capture-RNA), PYROXD2 (Two-hybrid), PYROXD2 (Two-hybrid)

ESM2 similar proteins: A0A7J6EK66, A0A803PDZ0, A1L0T0, A2ATU0, A2XFI3, A2Y5L9, A2YQ76, A6QQT9, A7YWE4, O22567, O61856, O78328, O82647, P20906, P28516, P33287, P39994, P51845, P51846, P51850, P51851, P66947, P9WG38, P9WG39, Q0D3D2, Q0DHF6, Q0JMH0, Q10MW3, Q38854, Q3JAD1, Q3MHH6, Q3U4I7, Q4KLP0, Q5RAP5, Q68FT3, Q6DDK5, Q6JQN1, Q6NV04, Q6YU51, Q8BU33

Diamond homologs: P06108, Q3MHH6, Q3U4I7, Q5RAP5, Q68FT3, Q8N2H3, P64752, P9WKP6, P9WKP7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3507 predictions. Top by Δscore:

Variant	Effect	Δscore
10:98387197:ATAC:A	donor_loss	1.0000
10:98387198:TA:T	donor_loss	1.0000
10:98387199:A:AC	donor_gain	1.0000
10:98387199:AC:A	donor_gain	1.0000
10:98387199:ACC:A	donor_gain	1.0000
10:98387200:C:CC	donor_gain	1.0000
10:98387200:C:CT	donor_loss	1.0000
10:98387200:CC:C	donor_gain	1.0000
10:98387200:CCC:C	donor_gain	1.0000
10:98387200:CCCCT:C	donor_gain	1.0000
10:98387303:AAACA:A	acceptor_gain	1.0000
10:98387304:AACA:A	acceptor_gain	1.0000
10:98387306:CA:C	acceptor_gain	1.0000
10:98387307:AC:A	acceptor_loss	1.0000
10:98387308:C:CC	acceptor_gain	1.0000
10:98387308:CT:C	acceptor_loss	1.0000
10:98387309:T:C	acceptor_loss	1.0000
10:98387313:G:C	acceptor_gain	1.0000
10:98387313:G:GC	acceptor_gain	1.0000
10:98387317:C:CT	acceptor_gain	1.0000
10:98387317:C:T	acceptor_gain	1.0000
10:98387318:A:T	acceptor_gain	1.0000
10:98387323:C:CT	acceptor_gain	1.0000
10:98390592:CCCTA:C	donor_loss	1.0000
10:98390593:CCTA:C	donor_loss	1.0000
10:98390594:CTA:C	donor_loss	1.0000
10:98390595:TA:T	donor_loss	1.0000
10:98390597:C:A	donor_loss	1.0000
10:98390751:GCCA:G	acceptor_gain	1.0000
10:98390752:CCA:C	acceptor_gain	1.0000

AlphaMissense

3760 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:98407621:G:C	S92R	0.992
10:98407621:G:T	S92R	0.992
10:98407623:T:G	S92R	0.992
10:98384966:A:C	C552W	0.991
10:98407936:C:T	G70E	0.991
10:98407960:A:T	V62D	0.991
10:98390751:G:T	A380D	0.990
10:98391017:C:A	K376N	0.990
10:98391017:C:G	K376N	0.990
10:98384960:A:C	S554R	0.989
10:98384960:A:T	S554R	0.989
10:98384962:T:G	S554R	0.989
10:98388482:G:A	S440F	0.989
10:98383845:C:A	G567W	0.988
10:98407651:A:C	F82L	0.988
10:98407651:A:T	F82L	0.988
10:98407653:A:G	F82L	0.988
10:98407936:C:A	G70V	0.988
10:98407997:C:G	A50P	0.988
10:98385065:G:C	N519K	0.987
10:98385065:G:T	N519K	0.987
10:98388430:G:C	F457L	0.987
10:98388430:G:T	F457L	0.987
10:98388432:A:G	F457L	0.987
10:98392992:C:G	A293P	0.987
10:98383853:C:T	G564E	0.986
10:98383854:C:G	G564R	0.986
10:98383854:C:T	G564R	0.986
10:98385059:G:C	F521L	0.986
10:98385059:G:T	F521L	0.986

dbSNP variants (sampled 300 via entrez): RS1000019291 (10:98408603 T>C), RS1000131177 (10:98414165 C>T), RS1000162143 (10:98413985 G>A), RS1000360835 (10:98408616 C>T), RS1000424691 (10:98394344 G>A), RS1000432222 (10:98400446 G>A,C), RS1000483808 (10:98401489 C>T), RS1000562093 (10:98392779 G>T), RS1000638309 (10:98407677 A>G), RS1000700258 (10:98395982 T>C), RS1000774572 (10:98394559 C>A), RS1000831684 (10:98404280 A>C,G), RS1000875856 (10:98390809 A>G), RS1000879119 (10:98403936 G>C), RS1001113244 (10:98385717 C>T)

Disease associations

OMIM: gene MIM:617889 | disease phenotypes: MIM:256000

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial disease	Limited	Autosomal recessive

Mondo (2): Leigh syndrome (MONDO:0009723), mitochondrial disease (MONDO:0044970)

Orphanet (1): Leigh syndrome (Orphanet:506)

HPO phenotypes

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

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST001220_1	Metabolite levels	8.000000e-15
GCST001762_344	Obesity-related traits	4.000000e-07
GCST001882_3	Metabolite levels	2.000000e-91
GCST002364_22	Urinary metabolites (H-NMR features)	3.000000e-164
GCST002364_23	Urinary metabolites (H-NMR features)	8.000000e-30
GCST002364_24	Urinary metabolites (H-NMR features)	2.000000e-55
GCST002364_25	Urinary metabolites (H-NMR features)	3.000000e-22
GCST002364_26	Urinary metabolites (H-NMR features)	6.000000e-19
GCST002364_27	Urinary metabolites (H-NMR features)	2.000000e-19
GCST002364_28	Urinary metabolites (H-NMR features)	4.000000e-12
GCST002364_29	Urinary metabolites (H-NMR features)	2.000000e-20
GCST002364_30	Urinary metabolites (H-NMR features)	4.000000e-34
GCST003119_17	Urinary metabolites	1.000000e-307
GCST006249_50	Serum metabolite levels	2.000000e-281
GCST006249_75	Serum metabolite levels	1.000000e-27
GCST009470_2	Plasma pyridoxal phosphate to pyridoxal ratio	4.000000e-08
GCST009733_215	Urinary metabolite levels in chronic kidney disease	2.000000e-309
GCST009733_219	Urinary metabolite levels in chronic kidney disease	1.000000e-234
GCST009733_62	Urinary metabolite levels in chronic kidney disease	2.000000e-209
GCST009733_85	Urinary metabolite levels in chronic kidney disease	0.000000e+00
GCST009733_86	Urinary metabolite levels in chronic kidney disease	0.000000e+00
GCST009733_88	Urinary metabolite levels in chronic kidney disease	7.000000e-81
GCST009735_10	Urinary metabolite modules (eigenmetabolites) in chronic kidney disease	0.000000e+00
GCST012020_414	Serum metabolite levels	4.000000e-62
GCST012020_415	Serum metabolite levels	1.000000e-15
GCST012020_416	Serum metabolite levels	4.000000e-226
GCST012020_417	Serum metabolite levels	3.000000e-89

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004725	metabolite measurement
EFO:0005116	urinary metabolite measurement
EFO:0004621	vitamin B6 measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007888	Leigh Disease	C10.228.140.163.100.412; C16.320.565.189.412; C16.320.565.202.810.444; C18.452.132.100.412; C18.452.648.189.412; C18.452.648.202.810.444; C18.452.660.520

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1061115	Efficacy	3	methylphenidate	Attention Deficit Disorder with Hyperactivity

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Vorinostat	affects cotreatment, decreases expression	2
Arsenic	affects methylation, increases abundance, increases expression	2
Nickel	decreases expression	2
aristolochic acid I	increases expression	1
bisphenol A	decreases methylation	1
sodium arsenate	increases abundance, increases expression	1
butylparaben	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
belinostat	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Resveratrol	increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Cadmium	increases abundance, increases expression	1
Calcitriol	increases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation, decreases expression	1
Aflatoxin B1	decreases expression, increases methylation	1
Cadmium Chloride	increases abundance, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03351998	PHASE4	COMPLETED	Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity
NCT00432744	PHASE3	COMPLETED	Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
NCT05162768	PHASE3	COMPLETED	Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
NCT06451757	PHASE3	RECRUITING	KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
NCT02398201	PHASE2	COMPLETED	A Study of Bezafibrate in Mitochondrial Myopathy
NCT02473445	PHASE2	TERMINATED	A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
NCT02500628	PHASE2	COMPLETED	Heart Rate Variability in Response to Metformin Challenge
NCT02805790	PHASE2	COMPLETED	Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study
NCT02909400	PHASE2	COMPLETED	The KHENERGY Study
NCT02976038	PHASE2	TERMINATED	Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)
NCT03177798	PHASE2	COMPLETED	Mitochondria and Chronic Kidney Disease
NCT03866954	PHASE2	WITHDRAWN	Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy
NCT04165239	PHASE2	COMPLETED	The KHENERGYZE Study
NCT04604548	PHASE2	COMPLETED	The KHENEREXT Study
NCT04802707	PHASE2	RECRUITING	Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
NCT04846036	PHASE2	SUSPENDED	The KHENERGYC Study
NCT05650229	PHASE2	RECRUITING	Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease
NCT05972954	PHASE2	COMPLETED	OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION)
NCT06017869	PHASE2	RECRUITING	Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)
NCT07514338	PHASE2	NOT_YET_RECRUITING	Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease
NCT01721733	PHASE2	COMPLETED	Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
NCT02352896	PHASE2	COMPLETED	Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
NCT03747328	PHASE2	WITHDRAWN	ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome
NCT06843811	PHASE2	ENROLLING_BY_INVITATION	Sirolimus for Leigh Syndrome
NCT06990984	PHASE2	NOT_YET_RECRUITING	A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)
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NCT01252979	EARLY_PHASE1	COMPLETED	Ketones & Mitochondrial Heteroplasmy