TMEM65

Summary

TMEM65 (transmembrane protein 65, HGNC:25203) is a protein-coding gene on chromosome 8q24.13, encoding Transmembrane protein 65 (Q6PI78). Essential for maintaining proper cardiac intercalated disk (ICD) structure and function as well as cardiac conduction velocity in the heart.

Predicted to be involved in cardiac conduction; cardiac ventricle development; and regulation of cardiac conduction. Located in several cellular components, including intercalated disc; mitochondrial inner membrane; and nucleolus.

Source: NCBI Gene 157378 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Moderate, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 25 total
• MANE Select transcript: NM_194291

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25203
Approved symbol	TMEM65
Name	transmembrane protein 65
Location	8q24.13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000164983
Ensembl biotype	protein_coding
OMIM	616609
Entrez	157378

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000297632, ENST00000704783, ENST00000704784, ENST00000704785, ENST00000704786, ENST00000704787, ENST00000704788, ENST00000908832, ENST00000908833

RefSeq mRNA: 1 — MANE Select: NM_194291 NM_194291

CCDS: CCDS6348

Canonical transcript exons

ENST00000297632 — 7 exons

Exon	Start	End
ENSE00001089119	124323321	124323375
ENSE00001089121	124322105	124322147
ENSE00001089123	124320086	124320191
ENSE00001242246	124306189	124314061
ENSE00001242252	124327354	124327421
ENSE00001307856	124330748	124330792
ENSE00001314522	124371854	124372701

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 96.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.7921 / max 205.0520, expressed in 1790 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
94751	8.6292	1672
94750	4.5005	1556
94749	2.0264	1227
94746	0.9667	617
94748	0.6942	412
94745	0.5623	335
94747	0.4129	214

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	96.31	gold quality
jejunal mucosa	UBERON:0000399	93.96	gold quality
tibialis anterior	UBERON:0001385	93.58	gold quality
heart right ventricle	UBERON:0002080	93.14	gold quality
deltoid	UBERON:0001476	91.71	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.66	gold quality
epithelial cell of pancreas	CL:0000083	91.05	gold quality
myocardium	UBERON:0002349	90.84	gold quality
biceps brachii	UBERON:0001507	90.71	gold quality
endothelial cell	CL:0000115	90.39	gold quality
vastus lateralis	UBERON:0001379	90.19	gold quality
Brodmann (1909) area 46	UBERON:0006483	89.72	gold quality
quadriceps femoris	UBERON:0001377	89.56	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	88.66	gold quality
duodenum	UBERON:0002114	88.17	gold quality
parotid gland	UBERON:0001831	87.99	gold quality
skeletal muscle tissue	UBERON:0001134	87.94	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.58	gold quality
middle temporal gyrus	UBERON:0002771	87.49	gold quality
jejunum	UBERON:0002115	87.22	gold quality
cardiac muscle of right atrium	UBERON:0003379	87.02	silver quality
skin of hip	UBERON:0001554	86.76	gold quality
muscle tissue	UBERON:0002385	86.59	gold quality
esophagus squamous epithelium	UBERON:0006920	86.37	gold quality
secondary oocyte	CL:0000655	86.34	gold quality
upper leg skin	UBERON:0004262	86.26	gold quality
gingiva	UBERON:0001828	85.96	gold quality
gingival epithelium	UBERON:0001949	85.67	gold quality
tibia	UBERON:0000979	84.57	gold quality
superior frontal gyrus	UBERON:0002661	84.49	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

240 targeting TMEM65, 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-656-3P	100.00	72.15	2788
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790

Literature-anchored findings (GeneRIF, showing 2)

• A novel homozygous splice variant (c.472+1G>A) in the TMEM65 gene identified in a patient with mitochondrial encephalomyopathy. TMEM65 mutation severely affected mitochondrial content and respiration rate in dermal fibroblasts. (PMID:28295037)
• TMEM65 promotes gastric tumorigenesis by targeting YWHAZ to activate PI3K-Akt-mTOR pathway and is a therapeutic target. (PMID:38341472)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem65	ENSDARG00000076393
mus_musculus	Tmem65	ENSMUSG00000062373
rattus_norvegicus	Tmem65	ENSRNOG00000008934
drosophila_melanogaster	CG17715	FBGN0041004
caenorhabditis_elegans		WBGENE00015386
caenorhabditis_elegans		WBGENE00044325

Protein

Protein identifiers

Transmembrane protein 65 — Q6PI78 (reviewed: Q6PI78)

All UniProt accessions (5): A0A994J4P3, A0A994J4W9, Q6PI78, A0A994J794, A0A994J7M8

UniProt curated annotations — full annotation on UniProt →

Function. Essential for maintaining proper cardiac intercalated disk (ICD) structure and function as well as cardiac conduction velocity in the heart. Its association with SCN1B is required for stabilizing the perinexus in the ICD and for localization of GJA1 and SCN5A to the ICD. May regulate the function of the gap junction protein GJA1 and may contribute to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication. May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance.

Subunit / interactions. Monomer. Homodimer. Interacts with GJA1. Interacts weakly with DSP. Interacts with SCN1B.

Subcellular location. Cell membrane. Mitochondrion inner membrane.

Tissue specificity. Predominantly expressed the ventricular tissue (at protein level).

Disease relevance. Defects in TMEM65 may cause a mitochondrial disorder characterized by a complex encephalomyopathic phenotype. Clinical features includ microcephaly, dysmorphic features, psychomotor regression, hypotonia, growth retardation, lactic acidosis, intractable seizures, dyskenetics movements, without cardiomyopathy.

RefSeq proteins (1): NP_919267* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019537	TMEM65	Family

Pfam: PF10507

UniProt features (11 total): topological domain 4, transmembrane region 3, transit peptide 1, chain 1, sequence conflict 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PI78-F1	72.80	0.37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 195 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_CIRCULATORY_SYSTEM_PROCESS, MENSE_HYPOXIA_UP, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, PATIL_LIVER_CANCER, MODULE_205, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_LOBULAR_NORMAL_DN, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_CARDIAC_VENTRICLE_DEVELOPMENT, LIAO_METASTASIS, GATA1_04

GO Biological Process (3): cardiac ventricle development (GO:0003231), cardiac conduction (GO:0061337), regulation of cardiac conduction (GO:1903779)

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

GO Cellular Component (6): nucleolus (GO:0005730), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), plasma membrane (GO:0005886), intercalated disc (GO:0014704), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of heart contraction	2
cardiac chamber development	1
cardiac conduction	1
binding	1
nuclear lumen	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
membrane	1
cell periphery	1
cell-cell contact zone	1
cellular anatomical structure	1

Protein interactions and networks

STRING

742 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM65	PLEKHA4	Q9H4M7	507
TMEM65	GJA1	P17302	481
TMEM65	TMEM165	Q9HC07	428
TMEM65	DPP9	Q86TI2	418
TMEM65	TAC4	Q86UU9	417
TMEM65	LZTFL1	Q9NQ48	416
TMEM65	AKR1D1	P51857	414
TMEM65	SLC12A7	Q9Y666	409
TMEM65	TMEM225B	P0DP42	408
TMEM65	FAM162A	Q96A26	408
TMEM65	ADM5	C9JUS6	404
TMEM65	RAVER1	Q8IY67	400
TMEM65	KANSL1	Q7Z3B3	370
TMEM65	FOXP4	Q8IVH2	370
TMEM65	SLC6A20	Q9NP91	356

IntAct

108 interactions, top by confidence:

A	B	Type	Score
TMEM65	RETREG3	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	AQP6	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	SCN3B	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	CYB561	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	TIMMDC1	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	IGSF9	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	TMX2	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	JPH1	psi-mi:“MI:0915”(physical association)	0.560
CYBRD1	TMEM65	psi-mi:“MI:0915”(physical association)	0.560
SLC10A6	TMEM65	psi-mi:“MI:0915”(physical association)	0.560
GPR42	TMEM65	psi-mi:“MI:0915”(physical association)	0.560
GJA8	TMEM65	psi-mi:“MI:0915”(physical association)	0.560
SLC18A1	TMEM65	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
PTGES	TMEM65	psi-mi:“MI:0915”(physical association)	0.560
ARL13B	TMEM65	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	REEP4	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
IL3RA	TMEM65	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
AQP6	TMEM65	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	SLC35C2	psi-mi:“MI:0915”(physical association)	0.560
MSMO1	TMEM65	psi-mi:“MI:0915”(physical association)	0.560
EBP	TMEM65	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (58): TMEM65 (Synthetic Lethality), TMEM65 (Affinity Capture-MS), TMEM65 (Affinity Capture-MS), MPZL1 (Affinity Capture-MS), TMEM65 (Two-hybrid), TMEM65 (Affinity Capture-MS), TMEM65 (Affinity Capture-MS), TMEM65 (Two-hybrid), TMEM65 (Two-hybrid), TMEM65 (Two-hybrid), TMEM65 (Two-hybrid), TMEM65 (Two-hybrid), TMEM65 (Two-hybrid), TMEM65 (Two-hybrid), TMEM65 (Two-hybrid)

ESM2 similar proteins: A0A0G2KQY6, A0A6I8PMZ8, A0JPN2, A4IGY6, A5D7L5, A7T1N0, B3DHU2, O43868, O75899, O88871, O94402, P04919, P0DX17, P23562, P26432, P26433, P48764, P55205, Q08E40, Q0DHJ5, Q0DWA9, Q0VCH8, Q15043, Q28C60, Q4VAE3, Q504Y0, Q5FVQ0, Q5FWH7, Q5RAB7, Q5Z413, Q6DCK1, Q6L8F3, Q6PI78, Q75N73, Q78IQ7, Q80T41, Q8K596, Q8VIH3, Q8W469, Q91W10

Diamond homologs: B3DHU2, Q0VCH8, Q4VAE3, Q6PI78

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1714 predictions. Top by Δscore:

Variant	Effect	Δscore
8:124313963:A:C	donor_gain	1.0000
8:124320080:ACTT:A	donor_loss	1.0000
8:124320081:CTTA:C	donor_loss	1.0000
8:124320082:TTAC:T	donor_loss	1.0000
8:124320083:TACCA:T	donor_loss	1.0000
8:124320084:A:AC	donor_gain	1.0000
8:124320084:A:T	donor_loss	1.0000
8:124320085:C:CC	donor_gain	1.0000
8:124320192:C:CC	acceptor_gain	1.0000
8:124320193:T:C	acceptor_gain	1.0000
8:124320194:T:C	acceptor_gain	1.0000
8:124324286:CAAAA:C	donor_gain	1.0000
8:124324318:T:A	donor_gain	1.0000
8:124327352:A:AC	donor_gain	1.0000
8:124327353:C:CC	donor_gain	1.0000
8:124307448:C:CC	acceptor_gain	0.9900
8:124313916:TGAGG:T	donor_gain	0.9900
8:124313933:CAT:C	donor_gain	0.9900
8:124313934:A:C	donor_gain	0.9900
8:124320085:CCA:C	donor_gain	0.9900
8:124320085:CCAA:C	donor_gain	0.9900
8:124320085:CCAAA:C	donor_gain	0.9900
8:124320187:CAAGT:C	acceptor_gain	0.9900
8:124320189:AGT:A	acceptor_gain	0.9900
8:124320190:GT:G	acceptor_gain	0.9900
8:124320192:C:A	acceptor_loss	0.9900
8:124320193:T:TC	acceptor_gain	0.9900
8:124320194:T:TC	acceptor_gain	0.9900
8:124320613:T:C	donor_gain	0.9900
8:124322103:A:AC	donor_gain	0.9900

AlphaMissense

1530 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:124314036:C:T	G216D	1.000
8:124322135:C:T	G162E	1.000
8:124322136:C:G	G162R	1.000
8:124322136:C:T	G162R	1.000
8:124327363:C:A	M136I	1.000
8:124327363:C:G	M136I	1.000
8:124327363:C:T	M136I	1.000
8:124327364:A:G	M136T	1.000
8:124327372:A:C	N133K	1.000
8:124327372:A:T	N133K	1.000
8:124327375:A:C	D132E	1.000
8:124327375:A:T	D132E	1.000
8:124327376:T:A	D132V	1.000
8:124327376:T:G	D132A	1.000
8:124327385:C:T	G129D	1.000
8:124327387:A:C	F128L	1.000
8:124327387:A:T	F128L	1.000
8:124327389:A:G	F128L	1.000
8:124371886:A:G	L91P	1.000
8:124314024:C:T	G220E	0.999
8:124314025:C:G	G220R	0.999
8:124314025:C:T	G220R	0.999
8:124314032:G:C	C217W	0.999
8:124314033:C:T	C217Y	0.999
8:124314034:A:G	C217R	0.999
8:124314037:C:G	G216R	0.999
8:124314048:C:T	G212E	0.999
8:124314049:C:G	G212R	0.999
8:124314049:C:T	G212R	0.999
8:124314060:C:T	G208D	0.999

dbSNP variants (sampled 300 via entrez): RS1000078026 (8:124345549 G>C), RS1000148179 (8:124363191 G>A,C), RS1000158780 (8:124356993 C>G), RS1000188040 (8:124336071 T>C), RS1000269094 (8:124310637 G>A,T), RS1000349723 (8:124352016 T>G), RS1000448169 (8:124310234 C>G), RS1000495349 (8:124358692 C>T), RS1000520230 (8:124339767 T>G), RS1000604800 (8:124358912 T>C), RS1000619469 (8:124332553 T>C), RS1000675354 (8:124350105 T>G), RS1000725121 (8:124305845 T>G), RS1000754550 (8:124374638 T>C), RS1000877597 (8:124319541 CCTCTT>C)

Disease associations

OMIM: gene MIM:616609 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial disease	Moderate	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Limited	AR

Mondo (1): mitochondrial disease (MONDO:0044970)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004708_12	Fear of minor pain	2.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008340	fear of minor pain measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation, increases expression	4
aristolochic acid I	decreases expression	1
glycidyl methacrylate	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
azoxystrobin	decreases expression	1
deguelin	decreases expression	1
pyrimidifen	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Carbamazepine	affects expression	1
Coumestrol	decreases expression, affects cotreatment	1
Doxorubicin	affects expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Hydrogen Peroxide	decreases expression	1
Malathion	increases expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	decreases expression	1
Rotenone	decreases expression	1
Thiram	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases expression	1
Antirheumatic Agents	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E2M5	HAP1 TMEM65 (-) 1	Cancer cell line	Male
CVCL_E2M6	HAP1 TMEM65 (-) 2	Cancer cell line	Male
CVCL_E2M7	HAP1 TMEM65 (-) 3	Cancer cell line	Male

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