DLGAP3

Summary

DLGAP3 (DLG associated protein 3, HGNC:30368) is a protein-coding gene on chromosome 1p34.3, encoding Disks large-associated protein 3 (O95886). May play a role in the molecular organization of synapses and neuronal cell signaling.

Predicted to enable PDZ domain binding activity; molecular adaptor activity; and scaffold protein binding activity. Predicted to be involved in modulation of chemical synaptic transmission and protein-containing complex assembly. Predicted to be located in plasma membrane. Predicted to be active in several cellular components, including cholinergic synapse; glutamatergic synapse; and neuromuscular junction.

Source: NCBI Gene 58512 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Strong, GenCC)
• GWAS associations: 18
• Clinical variants (ClinVar): 160 total — 5 pathogenic, 5 likely-pathogenic
• MANE Select transcript: NM_001080418

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30368
Approved symbol	DLGAP3
Name	DLG associated protein 3
Location	1p34.3
Locus type	gene with protein product
Status	Approved
Aliases	SAPAP3, DAP3
Ensembl gene	ENSG00000116544
Ensembl biotype	protein_coding
OMIM	611413
Entrez	58512

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000235180, ENST00000373347, ENST00000495979

RefSeq mRNA: 1 — MANE Select: NM_001080418 NM_001080418

CCDS: CCDS30670

Canonical transcript exons

ENST00000373347 — 12 exons

Exon	Start	End
ENSE00000764561	34867048	34867191
ENSE00000764563	34867536	34867627
ENSE00000764565	34868605	34869089
ENSE00001036065	34884978	34885063
ENSE00001460339	34865436	34866301
ENSE00001460342	34885478	34885791
ENSE00001460344	34886072	34886285
ENSE00001460345	34899669	34899741
ENSE00001460348	34900068	34900273
ENSE00001460351	34904277	34905434
ENSE00001460352	34907355	34907437
ENSE00001460354	34929451	34929650

Expression profiles

Bgee: expression breadth ubiquitous, 150 present calls, max score 92.74.

FANTOM5 (CAGE): breadth broad, TPM avg 2.5271 / max 126.7353, expressed in 296 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11655	1.6908	293
11654	0.3852	59
11649	0.1612	50
11652	0.1180	51
11650	0.1071	45
11653	0.0349	30
11651	0.0298	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right frontal lobe	UBERON:0002810	92.74	gold quality
anterior cingulate cortex	UBERON:0009835	92.27	gold quality
nucleus accumbens	UBERON:0001882	90.70	gold quality
prefrontal cortex	UBERON:0000451	90.18	gold quality
putamen	UBERON:0001874	89.87	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.39	gold quality
amygdala	UBERON:0001876	89.38	gold quality
caudate nucleus	UBERON:0001873	89.31	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	87.96	gold quality
frontal cortex	UBERON:0001870	87.56	gold quality
right hemisphere of cerebellum	UBERON:0014890	87.54	gold quality
neocortex	UBERON:0001950	87.40	gold quality
cerebellar hemisphere	UBERON:0002245	86.44	gold quality
cerebellar cortex	UBERON:0002129	86.38	gold quality
cerebral cortex	UBERON:0000956	85.22	gold quality
cerebellum	UBERON:0002037	84.74	gold quality
forebrain	UBERON:0001890	83.60	gold quality
Ammon’s horn	UBERON:0001954	83.17	gold quality
brain	UBERON:0000955	82.68	gold quality
temporal lobe	UBERON:0001871	82.18	gold quality
hypothalamus	UBERON:0001898	79.93	gold quality
superior frontal gyrus	UBERON:0002661	77.07	gold quality
cortical plate	UBERON:0005343	76.95	gold quality
primary visual cortex	UBERON:0002436	76.13	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.97	gold quality
postcentral gyrus	UBERON:0002581	74.24	gold quality
entorhinal cortex	UBERON:0002728	73.67	silver quality
substantia nigra	UBERON:0002038	73.66	gold quality
parietal lobe	UBERON:0001872	72.72	gold quality
occipital lobe	UBERON:0002021	72.22	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.88

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 8)

• Sapap3 is a promising functional candidate gene for human grooming disorder (obsessive compulsive disorder). (PMID:19051237)
• Multiple rare SAPAP3 missense variants in trichotillomania and OCD. (PMID:19096451)
• DLGAP3 remains a promising candidate gene for Tourette Syndrome. (PMID:21184590)
• This study generated preliminary evidence to link SAPAP3 variants to the development of earlier onset obsessive-compulsive disorder. (PMID:21295225)
• This study provides suggestive evidence that DLGAP3 and its interactive effect with SLC1A1 might be involved in susceptibility to developing OC symptoms in schizophrenia patients receiving AAP treatment. (PMID:21990008)
• several rare variants of the DLGAP3 gene were found in this study which may be associated with schizophrenia. (PMID:23414653)
• SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities. (PMID:35513389)
• Valence processing alterations in SAPAP3 knockout mice and human OCD. (PMID:35661523)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dlgap3	ENSDARG00000055459
mus_musculus	Dlgap3	ENSMUSG00000042388
rattus_norvegicus	Dlgap3	ENSRNOG00000014302

Paralogs (4): DLGAP4 (ENSG00000080845), DLGAP5 (ENSG00000126787), DLGAP1 (ENSG00000170579), DLGAP2 (ENSG00000198010)

Protein

Protein identifiers

Disks large-associated protein 3 — O95886 (reviewed: O95886)

Alternative names: PSD-95/SAP90-binding protein 3, SAP90/PSD-95-associated protein 3

All UniProt accessions (1): O95886

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.

Subunit / interactions. Interacts with DLG4/PSD-95.

Subcellular location. Cell membrane. Postsynaptic density. Synapse.

Similarity. Belongs to the SAPAP family.

RefSeq proteins (1): NP_001073887* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005026	SAPAP	Family

Pfam: PF03359

UniProt features (28 total): modified residue 10, region of interest 8, compositionally biased region 8, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95886-F1	50.83	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 (10): 58, 406, 409, 412, 416, 643, 645, 932, 935, 967

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6794361	Neurexins and neuroligins

MSigDB gene sets: 333 (showing top): CMYB_01, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_UBE2I, GOBP_MITOCHONDRIAL_TRANSLATION, MODULE_511, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, YY1_Q6, GOBP_CELL_CELL_SIGNALING, NFKB_Q6, GOBP_TRANSLATION, NFKB_C, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_APOPTOTIC_SIGNALING_PATHWAY, YY1_02, MORF_CTBP1

GO Biological Process (3): signaling (GO:0023052), modulation of chemical synaptic transmission (GO:0050804), modification of postsynaptic structure (GO:0099010)

GO Molecular Function (3): amyloid-beta binding (GO:0001540), molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (8): plasma membrane (GO:0005886), postsynaptic density (GO:0014069), neuromuscular junction (GO:0031594), glutamatergic synapse (GO:0098978), cholinergic synapse (GO:0098981), postsynaptic specialization (GO:0099572), membrane (GO:0016020), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Protein-protein interactions at synapses	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
synapse	3
binding	2
regulation of biological process	1
chemical synaptic transmission	1
regulation of trans-synaptic signaling	1
modification of synaptic structure	1
peptide binding	1
molecular_function	1
membrane	1
cell periphery	1
asymmetric synapse	1
postsynaptic specialization	1
organelle	1
postsynapse	1
cellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

1540 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DLGAP3	DLG4	P78352	981
DLGAP3	SLITRK5	O94991	933
DLGAP3	SHANK3	Q9BYB0	881
DLGAP3	HOXB8	P17481	801
DLGAP3	TAMALIN	Q7Z6J2	784
DLGAP3	SHANK2	Q9UPX8	775
DLGAP3	SLC1A1	P43005	746
DLGAP3	SLITRK1	Q96PX8	731
DLGAP3	GRIN2B	Q13224	710
DLGAP3	DLG3	Q92796	661
DLGAP3	SHANK1	Q9Y566	649
DLGAP3	CYTH3	O43739	639
DLGAP3	CYTH2	Q99418	638
DLGAP3	DLG2	Q15700	629
DLGAP3	GRIK2	Q13002	622

IntAct

46 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
DLGAP3	DLG2	psi-mi:“MI:0915”(physical association)	0.560
DLGAP3	MAGEA6	psi-mi:“MI:0915”(physical association)	0.560
DLGAP3	MAGI2	psi-mi:“MI:0915”(physical association)	0.560
DLGAP3	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-3	DLGAP3	psi-mi:“MI:0915”(physical association)	0.560
DLGAP3	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
DLGAP3	KANK2	psi-mi:“MI:0915”(physical association)	0.560
ABL1	DLGAP3	psi-mi:“MI:0915”(physical association)	0.400
DLGAP3	CRK	psi-mi:“MI:0915”(physical association)	0.400
SRC	DLGAP3	psi-mi:“MI:0915”(physical association)	0.400
DLGAP3	FYN	psi-mi:“MI:0915”(physical association)	0.400
DLGAP3	GRB2	psi-mi:“MI:0915”(physical association)	0.400
DLGAP3	NCK1	psi-mi:“MI:0915”(physical association)	0.400
PIK3R1	DLGAP3	psi-mi:“MI:0915”(physical association)	0.400
PLCG1	DLGAP3	psi-mi:“MI:0915”(physical association)	0.400
DLGAP3	DLG4	psi-mi:“MI:0915”(physical association)	0.370
DLGAP3	SHANK3	psi-mi:“MI:0915”(physical association)	0.370
Fto	DLGAP3	psi-mi:“MI:0915”(physical association)	0.370
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
CUL1	LGALS8	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
CUL4B	APBB1	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
KRAS	IGKV2D-29	psi-mi:“MI:0914”(association)	0.350
FHIP1B	MED19	psi-mi:“MI:2364”(proximity)	0.270
GPKOW	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
SRSF7	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (27): DLGAP3 (Affinity Capture-MS), DLGAP3 (Affinity Capture-MS), DLGAP3 (Affinity Capture-MS), DLGAP3 (Affinity Capture-MS), DLGAP3 (Affinity Capture-MS), DLG2 (Two-hybrid), GOLGA2 (Two-hybrid), MAGI2 (Two-hybrid), MAGEA6 (Two-hybrid), KANK2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP1-3 (Two-hybrid), DLGAP3 (Two-hybrid), DLGAP3 (Two-hybrid), DLGAP3 (Two-hybrid)

ESM2 similar proteins: A0FGR0, A0JMD2, A1L253, A3KP40, A7LKB2, A8K5M9, B1AXH1, B1AZP2, B5X7E4, B5XBI1, E2QSX5, F1QPR4, F1QR98, F1RDM5, O14490, O14613, O35413, O54834, O94875, O95886, P0CAX8, P28290, P97836, P97837, P97838, P97839, Q2HJ75, Q3UTJ2, Q3ZBS1, Q5REU9, Q5SYE7, Q60592, Q62417, Q6P0Q8, Q6PD31, Q6PFD5, Q7ZYZ6, Q80Y24, Q8BJ42, Q8BLN6

Diamond homologs: B1AZP2, O14490, O95886, P97836, P97837, P97838, P97839, Q15398, Q6PFD5, Q7K3L1, Q7ZYZ6, Q8BJ42, Q8K4R9, Q9D415, Q9P1A6, Q9Y2H0

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
DLGAP3	“up-regulates activity”	DLG4	binding
DLGAP3	“up-regulates activity”	SHANK1	relocalization
DLGAP3	“up-regulates activity”	SHANK2	relocalization
DLGAP3	“up-regulates activity”	SHANK3	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 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
Downstream signal transduction	7	98.7×	1e-10
Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants	5	96.1×	3e-07
DAP12 signaling	5	68.2×	8e-07
Signaling by CSF1 (M-CSF) in myeloid cells	5	64.1×	8e-07
Signaling by SCF-KIT	5	46.0×	3e-06
FCGR3A-mediated phagocytosis	6	41.6×	7e-07
VEGFA-VEGFR2 Pathway	5	25.8×	3e-05
RAF/MAP kinase cascade	7	15.8×	7e-06

GO biological processes:

GO term	Partners	Fold	FDR
ephrin receptor signaling pathway	5	50.6×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	5
Uncertain significance	79
Likely benign	21
Benign	11

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
1076776	NM_139119.3(YY1AP1):c.-151-100dup	Pathogenic
2066821	NM_139119.3(YY1AP1):c.-151-43T>A	Pathogenic
2425657	NC_000001.10:g.(?155581953)(155880552_?)del	Pathogenic
2683853	NC_000001.11:g.(155747068_155747546)_(155611487_155611965)del	Pathogenic
3571457	GRCh38/hg38 1q22(chr1:155610587-155746587)x1	Pathogenic
1723831	NM_139119.3(YY1AP1):c.-27C>T	Likely pathogenic
3065474	NM_139119.3(YY1AP1):c.-21+1G>T	Likely pathogenic
3066057	NM_004632.4(DAP3):c.1139T>G (p.Leu380Arg)	Likely pathogenic
3382939	NM_139119.3(YY1AP1):c.-151-158G>T	Likely pathogenic
3385343	NC_000001.11:g.(155641696_155642174)_(155747546_155777277)del	Likely pathogenic

SpliceAI

1885 predictions. Top by Δscore:

Variant	Effect	Δscore
1:34866299:CTC:C	acceptor_gain	1.0000
1:34866301:CCTG:C	acceptor_loss	1.0000
1:34866302:C:CC	acceptor_gain	1.0000
1:34866302:CTGCG:C	acceptor_loss	1.0000
1:34866303:T:G	acceptor_loss	1.0000
1:34867042:CCCCA:C	donor_loss	1.0000
1:34867043:CCCAC:C	donor_loss	1.0000
1:34867044:CCA:C	donor_loss	1.0000
1:34867045:CA:C	donor_loss	1.0000
1:34867051:AGGCT:A	donor_gain	1.0000
1:34867065:T:TA	donor_gain	1.0000
1:34867187:GGATC:G	acceptor_gain	1.0000
1:34867188:GATC:G	acceptor_gain	1.0000
1:34867190:TC:T	acceptor_gain	1.0000
1:34867191:CC:C	acceptor_gain	1.0000
1:34867192:C:CC	acceptor_gain	1.0000
1:34867193:T:C	acceptor_loss	1.0000
1:34867196:A:T	acceptor_gain	1.0000
1:34867198:C:CT	acceptor_gain	1.0000
1:34867199:A:T	acceptor_gain	1.0000
1:34867529:CACT:C	donor_loss	1.0000
1:34867530:ACTC:A	donor_loss	1.0000
1:34867531:CTCA:C	donor_loss	1.0000
1:34867532:TCA:T	donor_loss	1.0000
1:34867533:CA:C	donor_loss	1.0000
1:34867534:A:AC	donor_gain	1.0000
1:34867534:ACCAT:A	donor_loss	1.0000
1:34867535:C:CC	donor_gain	1.0000
1:34867535:C:CG	donor_loss	1.0000
1:34867535:CCATG:C	donor_gain	1.0000

AlphaMissense

6350 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:34866105:G:T	P973H	1.000
1:34866108:A:G	I972T	1.000
1:34866108:A:T	I972N	1.000
1:34866114:A:C	I970S	1.000
1:34866114:A:G	I970T	1.000
1:34866114:A:T	I970N	1.000
1:34866120:A:T	I968N	1.000
1:34867066:C:A	W901C	1.000
1:34867066:C:G	W901C	1.000
1:34867068:A:G	W901R	1.000
1:34867068:A:T	W901R	1.000
1:34867091:A:G	L893P	1.000
1:34867100:A:G	F890S	1.000
1:34867133:A:G	L879P	1.000
1:34867154:A:G	L872P	1.000
1:34867548:A:C	C855W	1.000
1:34868685:A:G	L802P	1.000
1:34904841:A:C	F181L	1.000
1:34904841:A:T	F181L	1.000
1:34904842:A:G	F181S	1.000
1:34904843:A:G	F181L	1.000
1:34904845:A:G	L180P	1.000
1:34904858:A:G	S176P	1.000
1:34904863:A:T	V174D	1.000
1:34904866:A:G	L173P	1.000
1:34904875:A:G	I170T	1.000
1:34866087:A:G	L979P	0.999
1:34866105:G:A	P973L	0.999
1:34866105:G:C	P973R	0.999
1:34866106:G:A	P973S	0.999

dbSNP variants (sampled 300 via entrez): RS1000053901 (1:34894223 G>C), RS1000077984 (1:34903573 C>G), RS1000090973 (1:34878622 A>C), RS1000094504 (1:34874082 T>A,C), RS1000099462 (1:34900360 C>A,G), RS1000199752 (1:34897217 C>A), RS1000235722 (1:34877566 A>G), RS1000256522 (1:34910156 C>G,T), RS1000281742 (1:34915978 C>G,T), RS1000333873 (1:34915656 A>C,T), RS1000398638 (1:34870609 G>A), RS1000462730 (1:34891721 T>C), RS1000528255 (1:34915138 T>C), RS1000550760 (1:34884011 T>G), RS1000617186 (1:34919694 C>G,T)

Disease associations

OMIM: gene MIM:611413 | disease phenotypes: MIM:602531, MIM:615355, MIM:233400, MIM:621101, MIM:617675

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial disease	Strong	Autosomal recessive

Mondo (6): grange syndrome (MONDO:0011243), Noonan syndrome 8 (MONDO:0014143), Perrault syndrome 1 (MONDO:0009300), Perrault syndrome 7 (MONDO:0976232), mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome (MONDO:0044714), mitochondrial disease (MONDO:0044970)

Orphanet (5): Grange syndrome (Orphanet:79094), Noonan syndrome (Orphanet:648), Perrault syndrome (Orphanet:2855), Perrault syndrome type 1 (Orphanet:642945), Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome (Orphanet:502423)

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST003139_12	Glomerular filtration rate in chronic kidney disease	4.000000e-06
GCST004131_70	Inflammatory bowel disease	6.000000e-08
GCST004132_44	Crohn’s disease	2.000000e-07
GCST004294_1	Nicotine dependence	5.000000e-07
GCST007294_124	Body fat distribution (trunk fat ratio)	8.000000e-35
GCST007294_3	Body fat distribution (trunk fat ratio)	6.000000e-21
GCST007294_50	Body fat distribution (trunk fat ratio)	1.000000e-15
GCST007295_17	Body fat distribution (leg fat ratio)	3.000000e-13
GCST007295_37	Body fat distribution (leg fat ratio)	7.000000e-17
GCST007295_72	Body fat distribution (leg fat ratio)	1.000000e-28
GCST010696_19	Cortical thickness (min-P)	2.000000e-10
GCST010697_10	Cortical surface area (min-P)	3.000000e-10
GCST010698_59	Subcortical volume (min-P)	9.000000e-10
GCST010699_20	Brain morphology (min-P)	7.000000e-10
GCST010700_5	Cortical thickness (MOSTest)	8.000000e-17
GCST010701_66	Cortical surface area (MOSTest)	1.000000e-09
GCST010702_43	Subcortical volume (MOSTest)	3.000000e-10
GCST010703_253	Brain morphology (MOSTest)	4.000000e-14

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004341	body fat distribution
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566529	Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases expression, decreases methylation	2
TAK-243	decreases sumoylation	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Lead	affects expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

103 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
NCT00060515	PHASE1	TERMINATED	RG2133 (2’,3’,5’-Tri-O-Acetyluridine) in Mitochondrial Disease
NCT02348125	PHASE1	UNKNOWN	Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT03888716	PHASE1	COMPLETED	A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
NCT04086329	PHASE1	RECRUITING	Validation of Oxygen Nanosensor in Mitochondrial Myopathy
NCT04643249	PHASE1	COMPLETED	Drug-drug Interaction Study of KL1333 in Healthy Subjects
NCT05241262	PHASE1	RECRUITING	Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
NCT05569122	PHASE1	RECRUITING	Applying pGz in Mitochondrial Disease
NCT06819683	PHASE1	RECRUITING	Validation of Nanosensor Oxygen Measurement
NCT07258667	PHASE1	NOT_YET_RECRUITING	Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber’s Hereditary Optic Neuropathy
NCT04378075	PHASE2/PHASE3	TERMINATED	A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
NCT01642056	PHASE1/PHASE2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT03384420	PHASE1/PHASE2	COMPLETED	A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome
NCT06051448	PHASE1/PHASE2	COMPLETED	Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD).
NCT01252979	EARLY_PHASE1	COMPLETED	Ketones & Mitochondrial Heteroplasmy
NCT00786539	Not specified	COMPLETED	Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases
NCT00829270	Not specified	COMPLETED	Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques
NCT00831948	Not specified	UNKNOWN	Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
NCT01001585	Not specified	TERMINATED	Anesthetic Effects in Mitochondrial Disease
NCT01148550	Not specified	SUSPENDED	Longitudinal Study of Mitochondrial Hepatopathies