NDUFAF8

Summary

NDUFAF8 (NADH:ubiquinone oxidoreductase complex assembly factor 8, HGNC:33551) is a protein-coding gene on chromosome 17q25.3, encoding NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 (A1L188). Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1). It is a selective cancer dependency (DepMap: 66.1% of cell lines).

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial matrix. Implicated in nuclear type mitochondrial complex I deficiency 34.

Source: NCBI Gene 284184 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Leigh syndrome (Strong, GenCC) — +3 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 16 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 47
• Cancer dependency (DepMap): dependent in 66.1% of screened cell lines
• MANE Select transcript: NM_001086521

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33551
Approved symbol	NDUFAF8
Name	NADH:ubiquinone oxidoreductase complex assembly factor 8
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000224877
Ensembl biotype	protein_coding
OMIM	618461
Entrez	284184

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding_CDS_not_defined, 2 protein_coding, 1 retained_intron

ENST00000431388, ENST00000573090, ENST00000573173, ENST00000575067, ENST00000576002, ENST00000577158

RefSeq mRNA: 3 — MANE Select: NM_001086521 NM_001086521, NM_001353402, NM_001353403

CCDS: CCDS45809

Canonical transcript exons

ENST00000431388 — 3 exons

Exon	Start	End
ENSE00001732002	81239568	81239678
ENSE00002666507	81240987	81241310
ENSE00002677408	81239318	81239447

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 98.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 57.9562 / max 425.6239, expressed in 1824 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163307	54.2934	1822
163306	3.6032	1580
163308	0.0596	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	98.33	gold quality
putamen	UBERON:0001874	98.08	gold quality
globus pallidus	UBERON:0001875	98.07	gold quality
amygdala	UBERON:0001876	97.89	gold quality
nucleus accumbens	UBERON:0001882	97.89	gold quality
left ventricle myocardium	UBERON:0006566	97.85	silver quality
caudate nucleus	UBERON:0001873	97.75	gold quality
kidney epithelium	UBERON:0004819	97.69	silver quality
cardiac muscle of right atrium	UBERON:0003379	97.64	silver quality
hindlimb stylopod muscle	UBERON:0004252	97.51	gold quality
apex of heart	UBERON:0002098	97.49	gold quality
lateral globus pallidus	UBERON:0002476	97.49	gold quality
parotid gland	UBERON:0001831	97.48	gold quality
prefrontal cortex	UBERON:0000451	97.40	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.20	gold quality
substantia nigra	UBERON:0002038	97.19	gold quality
myocardium	UBERON:0002349	97.19	silver quality
midbrain	UBERON:0001891	97.10	gold quality
endothelial cell	CL:0000115	97.09	gold quality
anterior cingulate cortex	UBERON:0009835	96.96	gold quality
vastus lateralis	UBERON:0001379	96.92	gold quality
quadriceps femoris	UBERON:0001377	96.88	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.87	gold quality
body of tongue	UBERON:0011876	96.83	gold quality
hypothalamus	UBERON:0001898	96.70	gold quality
temporal lobe	UBERON:0001871	96.68	gold quality
Ammon’s horn	UBERON:0001954	96.68	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.68	gold quality
cardiac atrium	UBERON:0002081	96.65	gold quality
ventral tegmental area	UBERON:0002691	96.62	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.44
E-MTAB-7606	no	354.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting NDUFAF8, 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-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-455-5P	98.74	67.31	795
HSA-MIR-3928-5P	98.50	67.48	980
HSA-MIR-6806-3P	98.50	67.31	980
HSA-MIR-510-5P	97.66	65.82	916
HSA-MIR-4788	95.82	66.85	73

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 66.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. (PMID:31866046)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ndufaf8	ENSDARG00000096749
mus_musculus	Ndufaf8	ENSMUSG00000078572
rattus_norvegicus	Ndufaf8	ENSRNOG00000084928

Protein

Protein identifiers

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 — A1L188 (reviewed: A1L188)

All UniProt accessions (2): A1L188, I3L4C8

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1). Required to stabilize NDUFAF5.

Subunit / interactions. Interacts with NDUFAF5.

Subcellular location. Mitochondrion.

Disease relevance. Mitochondrial complex I deficiency, nuclear type 34 (MC1DN34) [MIM:618776] A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN34 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (3): NP_001079990, NP_001340331, NP_001340332 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR034595	NDUFAF8	Family

UniProt features (7 total): short sequence motif 2, disulfide bond 2, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A1L188-F1	91.12	0.79

Functional residue map

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

Disulfide bonds (2): 25–61, 35–51

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-6799198	Complex I biogenesis
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism
R-HSA-611105	Respiratory electron transport

MSigDB gene sets: 149 (showing top): GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_UP, GOCC_MITOCHONDRIAL_MATRIX, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, GOBP_NADH_DEHYDROGENASE_COMPLEX_ASSEMBLY, PECE_MAMMARY_STEM_CELL_UP, WARTERS_RESPONSE_TO_IR_SKIN, REACTOME_COMPLEX_I_BIOGENESIS, ASH1L_TARGET_GENES, CEBPZ_TARGET_GENES, CIITA_TARGET_GENES, CREB3L4_TARGET_GENES, ELF2_TARGET_GENES, GREB1_TARGET_GENES

GO Biological Process (1): mitochondrial respiratory chain complex I assembly (GO:0032981)

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

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

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Respiratory electron transport	1
Metabolism	1
Aerobic respiration and respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
NADH dehydrogenase complex assembly	1
mitochondrial respiratory chain complex assembly	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

406 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NDUFAF8	NDUFAF5	Q5TEU4	859
NDUFAF8	NDUFAF3	Q9BU61	601
NDUFAF8	NDUFAF4	Q9P032	600
NDUFAF8	NDUFAF6	Q330K2	557
NDUFAF8	FOXRED1	Q96CU9	556
NDUFAF8	NDUFS5	O43920	548
NDUFAF8	TMEM126B	Q8IUX1	545
NDUFAF8	TIMMDC1	Q9NPL8	542
NDUFAF8	ETFRF1	Q6IPR1	507
NDUFAF8	NDUFAF2	Q8N183	502
NDUFAF8	ARGLU1	Q9NWB6	490
NDUFAF8	SLC9A2	Q9UBY0	423
NDUFAF8	C15orf61	A6NNL5	417
NDUFAF8	NDUFS3	O75489	416
NDUFAF8	NDUFS7	O75251	412

IntAct

15 interactions, top by confidence:

A	B	Type	Score
NDUFAF8	NDUFAF5	psi-mi:“MI:0915”(physical association)	0.750
NDUFAF8	NDUFAF5	psi-mi:“MI:0914”(association)	0.750
NDUFAF5	NDUFAF8	psi-mi:“MI:0914”(association)	0.750
NDUFAF8	TRUB2	psi-mi:“MI:0914”(association)	0.350
NDUFAF8	ALDH1L1	psi-mi:“MI:0914”(association)	0.350
DHRS4	NDUFAF8	psi-mi:“MI:0914”(association)	0.350
NDUFAF8	NDUFAB1	psi-mi:“MI:0914”(association)	0.350
	NDUFAF8	psi-mi:“MI:0914”(association)	0.350
NDUFAF8	GAPDHS	psi-mi:“MI:0914”(association)	0.350

BioGRID (46): NDUFAF5 (Affinity Capture-Western), NDUFAF5 (Affinity Capture-MS), C17orf89 (Affinity Capture-MS), C17orf89 (Affinity Capture-MS), CHCHD2 (Affinity Capture-MS), STOML2 (Affinity Capture-MS), PI4KA (Affinity Capture-MS), ATP5H (Affinity Capture-MS), C14orf159 (Affinity Capture-MS), POLDIP2 (Affinity Capture-MS), SLC16A1 (Affinity Capture-MS), NDUFS3 (Affinity Capture-MS), TRUB2 (Affinity Capture-MS), ATP5O (Affinity Capture-MS), MRPS35 (Affinity Capture-MS)

ESM2 similar proteins: A1L188, A2AMZ4, A2XK00, A7YY73, B4FGS2, B4FTR7, B8B624, C0HAV3, C5E268, G2TRP6, O13973, O75012, O95159, O95872, Q0VDN7, Q12894, Q28H71, Q2YDD3, Q3SZA2, Q3SZW4, Q3U0S6, Q3UJV1, Q49AH0, Q4G012, Q5FVV3, Q5U509, Q5U651, Q61858, Q6ASS9, Q6P0I6, Q756Q5, Q7S4Y4, Q7XAM0, Q7XK12, Q8BGD8, Q8BGX2, Q8CC36, Q8VED2, Q96BP2, Q96C34

Diamond homologs: A1L188, A2AMZ4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	5
Likely benign	2
Benign	5

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
691644	NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs)	Pathogenic
691641	NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu)	Likely pathogenic

SpliceAI

324 predictions. Top by Δscore:

Variant	Effect	Δscore
17:81239443:CCGAG:C	donor_loss	1.0000
17:81239444:CGAGG:C	donor_loss	1.0000
17:81239446:AGGT:A	donor_loss	1.0000
17:81239448:G:GA	donor_loss	1.0000
17:81239449:T:A	donor_loss	1.0000
17:81239445:GAG:G	donor_gain	0.9900
17:81239448:G:GG	donor_gain	0.9900
17:81239566:A:AC	acceptor_loss	0.9900
17:81239567:GGCC:G	acceptor_gain	0.9900
17:81239566:A:AG	acceptor_gain	0.9800
17:81239567:G:GG	acceptor_gain	0.9800
17:81239318:G:GT	donor_gain	0.9700
17:81239322:GACC:G	donor_gain	0.9700
17:81239484:G:GT	donor_gain	0.9700
17:81239763:T:A	acceptor_gain	0.9700
17:81239567:GGC:G	acceptor_gain	0.9600
17:81239677:CG:C	donor_loss	0.9600
17:81239679:G:GA	donor_loss	0.9600
17:81239679:G:GG	donor_gain	0.9600
17:81239680:T:A	donor_loss	0.9600
17:81239563:C:CA	acceptor_gain	0.9500
17:81239566:AG:A	acceptor_gain	0.9500
17:81239567:GG:G	acceptor_gain	0.9500
17:81239676:GCG:G	donor_gain	0.9500
17:81239566:AGGCC:A	acceptor_gain	0.9000
17:81239567:GGCCG:G	acceptor_gain	0.9000
17:81239312:G:GT	donor_gain	0.8900
17:81239623:G:GG	donor_gain	0.8900
17:81239622:A:AG	donor_gain	0.8800
17:81239681:A:C	donor_loss	0.8800

AlphaMissense

460 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:81239646:T:C	F55L	0.969
17:81239648:C:A	F55L	0.969
17:81239648:C:G	F55L	0.969
17:81239647:T:G	F55C	0.934
17:81239581:G:A	G33D	0.908
17:81239577:T:C	Y32H	0.907
17:81239416:T:G	F18C	0.897
17:81239635:G:A	C51Y	0.887
17:81239627:G:C	K48N	0.883
17:81239627:G:T	K48N	0.883
17:81239647:T:C	F55S	0.874
17:81239634:T:A	C51S	0.873
17:81239635:G:C	C51S	0.873
17:81239644:A:T	E54V	0.870
17:81239415:T:C	F18L	0.868
17:81239417:C:A	F18L	0.868
17:81239417:C:G	F18L	0.868
17:81239668:T:C	F62S	0.864
17:81239387:G:C	W8C	0.862
17:81239387:G:T	W8C	0.862
17:81239667:T:C	F62L	0.859
17:81239669:C:A	F62L	0.859
17:81239669:C:G	F62L	0.859
17:81239577:T:A	Y32N	0.858
17:81239666:C:G	C61W	0.857
17:81239656:T:A	L58Q	0.844
17:81239636:C:G	C51W	0.843
17:81239437:G:A	C25Y	0.836
17:81239665:G:A	C61Y	0.835
17:81239568:G:C	A29P	0.834

dbSNP variants (sampled 300 via entrez): RS1000200703 (17:81239782 C>G,T), RS1000688124 (17:81238509 C>A,T), RS1001987458 (17:81239366 G>A), RS1002442907 (17:81239216 A>G,T), RS1002564426 (17:81240738 T>TA), RS1002634884 (17:81241661 G>A), RS1002804031 (17:81241008 G>C,T), RS1004046531 (17:81239558 C>A,G,T), RS1004497880 (17:81239376 G>A,C,T), RS1005580304 (17:81240207 A>G), RS1006438573 (17:81240456 G>T), RS1007712101 (17:81239382 G>A,C,T), RS1008341074 (17:81238672 C>G,T), RS1008393165 (17:81238438 G>A), RS1010111537 (17:81239678 G>A,T)

Disease associations

OMIM: gene MIM:618461 | disease phenotypes: MIM:618776

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial complex I deficiency, nuclear type 34	Strong	Autosomal recessive
Leigh syndrome	Strong	Autosomal recessive
mitochondrial complex I deficiency	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
Leigh syndrome	Moderate	AR
mitochondrial disease	Moderate	AR

Mondo (4): mitochondrial complex I deficiency, nuclear type 34 (MONDO:0032910), mitochondrial disease (MONDO:0044970), mitochondrial complex I deficiency (MONDO:0100133), Leigh syndrome (MONDO:0009723)

Orphanet (1): Mitochondrial disease (Orphanet:68380)

HPO phenotypes

47 total (30 of 47 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000114	Proximal tubulopathy
HP:0000252	Microcephaly
HP:0000407	Sensorineural hearing impairment
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000543	Optic disc pallor
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000817	Reduced eye contact
HP:0000819	Diabetes mellitus
HP:0001138	Optic neuropathy
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001263	Global developmental delay
HP:0001298	Encephalopathy
HP:0001324	Muscle weakness
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001639	Hypertrophic cardiomyopathy
HP:0001942	Metabolic acidosis
HP:0001943	Hypoglycemia
HP:0002013	Vomiting
HP:0002093	Respiratory insufficiency
HP:0002240	Hepatomegaly
HP:0002352	Leukoencephalopathy
HP:0002415	Leukodystrophy

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002960_1	Frontotemporal dementia	1.000000e-07
GCST002960_6	Frontotemporal dementia	7.000000e-06
GCST002960_7	Frontotemporal dementia	8.000000e-07
GCST002960_8	Frontotemporal dementia	4.000000e-06

MeSH disease descriptors (2)

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
C537475	Mitochondrial complex I deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression	2
sodium arsenite	decreases expression, increases expression	2
Air Pollutants	increases abundance, increases expression, decreases expression, affects cotreatment	2
Doxorubicin	affects expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression, increases abundance	2
Valproic Acid	increases expression, increases methylation	2
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
Acrolein	increases abundance, affects cotreatment, increases expression	1
Carbamazepine	affects expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Oxygen	decreases expression	1
Ozone	affects cotreatment, increases expression, increases abundance	1
Urethane	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases expression	1
Lactic Acid	increases expression	1

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3C3	Abcam HEK293T NDUFAF8 KO	Transformed cell line	Female
CVCL_E1SU	HAP1 C17orf89 (-)	Cancer cell line	Male

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
NCT05162768	PHASE3	COMPLETED	Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
NCT00432744	PHASE3	COMPLETED	Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
NCT06451757	PHASE3	RECRUITING	KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
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)
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)
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