PIGY

Summary

PIGY (phosphatidylinositol glycan anchor biosynthesis class Y, HGNC:28213) is a protein-coding gene on chromosome 4q22.1, encoding Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y (Q3MUY2). Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.

The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939.

Source: NCBI Gene 84992 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hyperphosphatasia with intellectual disability syndrome 6 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 4
• Clinical variants (ClinVar): 21 total — 3 pathogenic
• Phenotypes (HPO): 99
• MANE Select transcript: NM_001042616

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28213
Approved symbol	PIGY
Name	phosphatidylinositol glycan anchor biosynthesis class Y
Location	4q22.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC14156, PIG-Y
Ensembl gene	ENSG00000255072
Ensembl biotype	protein_coding
OMIM	610662
Entrez	84992

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000527353

RefSeq mRNA: 1 — MANE Select: NM_001042616 NM_001042616

CCDS: CCDS54778

Canonical transcript exons

ENST00000527353 — 2 exons

Exon	Start	End
ENSE00002193394	88520998	88522029
ENSE00003909565	88523498	88523776

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 94.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.3294 / max 167.2393, expressed in 1777 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
53098	67.6767	1824
53097	11.0189	1773
53096	0.3105	120

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	94.50	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.21	gold quality
smooth muscle tissue	UBERON:0001135	94.11	gold quality
body of pancreas	UBERON:0001150	94.11	gold quality
pancreas	UBERON:0001264	94.03	gold quality
left adrenal gland	UBERON:0001234	93.82	gold quality
left coronary artery	UBERON:0001626	93.81	gold quality
left uterine tube	UBERON:0001303	93.78	gold quality
right adrenal gland cortex	UBERON:0035827	93.78	gold quality
left adrenal gland cortex	UBERON:0035825	93.72	gold quality
monocyte	CL:0000576	93.67	gold quality
leukocyte	CL:0000738	93.67	gold quality
right adrenal gland	UBERON:0001233	93.66	gold quality
descending thoracic aorta	UBERON:0002345	93.62	gold quality
endometrium	UBERON:0001295	93.61	gold quality
popliteal artery	UBERON:0002250	93.57	gold quality
fallopian tube	UBERON:0003889	93.57	gold quality
tibial artery	UBERON:0007610	93.57	gold quality
substantia nigra	UBERON:0002038	93.48	gold quality
body of uterus	UBERON:0009853	93.44	gold quality
hypothalamus	UBERON:0001898	93.37	gold quality
subcutaneous adipose tissue	UBERON:0002190	93.36	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.35	gold quality
ectocervix	UBERON:0012249	93.31	gold quality
adipose tissue	UBERON:0001013	93.27	gold quality
ventricular zone	UBERON:0003053	93.26	gold quality
thoracic aorta	UBERON:0001515	93.22	gold quality
omental fat pad	UBERON:0010414	93.18	gold quality
ascending aorta	UBERON:0001496	93.17	gold quality
endocervix	UBERON:0000458	93.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting PIGY, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-6083	99.47	68.73	2393
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-513B-3P	98.76	68.12	1577
HSA-MIR-6873-5P	98.45	66.14	1417
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-6757-5P	98.08	65.50	724
HSA-MIR-4772-3P	98.04	65.60	1203
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-3614-3P	97.81	67.15	582
HSA-MIR-127-5P	97.78	67.64	869

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pigyl	ENSMUSG00000010607
rattus_norvegicus	Pigy	ENSRNOG00000052134

Protein

Protein identifiers

Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y — Q3MUY2 (reviewed: Q3MUY2)

Alternative names: Phosphatidylinositol-glycan biosynthesis class Y protein

All UniProt accessions (1): Q3MUY2

UniProt curated annotations — full annotation on UniProt →

Function. Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis. May act by regulating the catalytic subunit PIGA.

Subunit / interactions. Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2. Interacts directly with PIGA; this interaction regulates glycosylphosphatidylinositol-N-acetylglucosaminyltransferase activity. Does not interact with Ras proteins.

Subcellular location. Endoplasmic reticulum membrane.

Disease relevance. Hyperphosphatasia with impaired intellectual development syndrome 6 (HPMRS6) [MIM:616809] An autosomal recessive, multisystem disorder characterized by severe developmental delay, dysmorphism, seizures, cataracts, and early death in some patients. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Miscellaneous. PREY and PIGY, 2 apparently unrelated proteins, are respectively the product of an upstream and a downstream ORF contained in a single bicistronic transcript.

RefSeq proteins (1): NP_001036081* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029164	PIG-Y	Family

Pfam: PF15159

Enzyme classification (BRENDA):

• EC 2.4.1.198 — phosphatidylinositol N-acetylglucosaminyltransferase (BRENDA: 42 organisms, 12 substrates, 7 inhibitors, 0 Km, 0 kcat entries)

UniProt features (7 total): topological domain 3, transmembrane region 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3MUY2-F1	89.02	0.58

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-162710	Synthesis of glycosylphosphatidylinositol (GPI)

MSigDB gene sets: 317 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, REACTOME_SYNTHESIS_OF_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_PROTEIN_MATURATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, KEGG_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI_ANCHOR_BIOSYNTHESIS, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOZGIT_ESR1_TARGETS_UP

GO Biological Process (1): GPI anchor biosynthetic process (GO:0006506)

GO Molecular Function (2): protein binding (GO:0005515), phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)

GO Cellular Component (5): glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational modification: synthesis of GPI-anchored proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GPI anchor metabolic process	1
glycolipid biosynthetic process	1
glycerophospholipid biosynthetic process	1
GPI anchored protein biosynthesis	1
binding	1
acetylglucosaminyltransferase activity	1
endoplasmic reticulum membrane	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1
transferase complex	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

454 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PIGY	PIGH	Q14442	999
PIGY	PIGC	Q92535	999
PIGY	PIGP	P57054	999
PIGY	PIGQ	Q9BRB3	998
PIGY	PIGA	P37287	995
PIGY	DPM2	O94777	985
PIGY	PYURF	Q96I23	911
PIGY	PIGV	Q9NUD9	804
PIGY	PIGW	Q7Z7B1	788
PIGY	PIGL	Q9Y2B2	783
PIGY	PIGO	Q8TEQ8	774
PIGY	PGAP2	Q9UHJ9	760
PIGY	PIGM	Q9H3S5	741
PIGY	PIGZ	Q86VD9	716
PIGY	PIGB	Q92521	712
PIGY	PGAP3	Q96FM1	712

IntAct

15 interactions, top by confidence:

A	B	Type	Score
PIGA	PIGP	psi-mi:“MI:0914”(association)	0.710
PIGA	DPM2	psi-mi:“MI:0914”(association)	0.660
ERG28	PIGY	psi-mi:“MI:0915”(physical association)	0.560
TMEM72	PIGY	psi-mi:“MI:0915”(physical association)	0.560
PIGY	ERG28	psi-mi:“MI:0915”(physical association)	0.560
PIGA	PIGY	psi-mi:“MI:0915”(physical association)	0.560
PIGA	PIGY	psi-mi:“MI:0914”(association)	0.560
ABCB4	PIGY	psi-mi:“MI:0915”(physical association)	0.370
RCC1L	PRORP	psi-mi:“MI:0914”(association)	0.350
TMEM72	PIGY	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (5): PIGY (Biochemical Activity), PIGY (Two-hybrid), PIGY (Two-hybrid), PIGY (Affinity Capture-MS), PIGY (Two-hybrid)

ESM2 similar proteins: A0A318, A2BQ51, A2BVN3, A2C127, A2CAP6, A3PBU4, A5GJP1, A5GUE6, B0C6G0, B0JWY5, B1WNP9, B1X3F0, B2J0I9, B7K767, C0H465, O28694, O31933, O96808, P0C1N9, P0C1P0, P0C1P1, P0C8E5, P0C8E6, P17828, P17831, P17832, P17833, P27372, P48273, P62651, Q06GP0, Q0I8V6, Q10W93, Q2JJ68, Q2JRP9, Q31BW4, Q31R74, Q3AKY6, Q3AYG7, Q3MBD4

Diamond homologs: P0C1N9, P0C1P0, P0C1P1, Q3MUY2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	12
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
222024	NM_001042616.3(PIGY):c.137T>C (p.Leu46Pro)	Pathogenic
222025	NC_000004.12:g.88523797C>T	Pathogenic
993284	NM_032906.5(PYURF):c.289_290dup (p.Gln97fs)	Pathogenic

SpliceAI

236 predictions. Top by Δscore:

Variant	Effect	Δscore
4:88522025:CATAT:C	acceptor_gain	1.0000
4:88522027:TAT:T	acceptor_gain	1.0000
4:88522030:C:CC	acceptor_gain	1.0000
4:88522035:G:GC	acceptor_gain	1.0000
4:88523495:TACCT:T	donor_loss	1.0000
4:88523496:ACCTG:A	donor_loss	1.0000
4:88523497:C:CG	donor_loss	1.0000
4:88522028:AT:A	acceptor_gain	0.9900
4:88522029:TCTGA:T	acceptor_loss	0.9900
4:88522030:C:A	acceptor_loss	0.9900
4:88522031:T:A	acceptor_loss	0.9900
4:88522035:G:C	acceptor_gain	0.9900
4:88522899:T:C	donor_gain	0.9900
4:88523496:A:AC	donor_gain	0.9900
4:88523497:C:CC	donor_gain	0.9900
4:88522888:A:AC	donor_gain	0.9700
4:88522889:C:CC	donor_gain	0.9700
4:88522026:ATAT:A	acceptor_gain	0.9600
4:88523508:T:TA	donor_gain	0.9400
4:88522105:C:CT	donor_gain	0.9300
4:88522881:CAACA:C	donor_gain	0.9200
4:88522882:AACAA:A	donor_gain	0.9200
4:88522860:TTC:T	donor_gain	0.8900
4:88522890:T:C	donor_gain	0.8900
4:88522856:CACTT:C	donor_gain	0.8200
4:88522861:T:A	donor_gain	0.8200
4:88522884:CA:C	donor_gain	0.8100
4:88522885:AA:A	donor_gain	0.8100
4:88522816:G:C	donor_gain	0.8000
4:88522980:TAGGG:T	donor_gain	0.8000

AlphaMissense

456 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:88521586:G:C	F68L	0.988
4:88521586:G:T	F68L	0.988
4:88521588:A:G	F68L	0.988
4:88521587:A:G	F68S	0.977
4:88521577:A:C	N71K	0.976
4:88521577:A:T	N71K	0.976
4:88521588:A:T	F68I	0.976
4:88521638:A:T	I51K	0.974
4:88521592:T:A	K66N	0.973
4:88521592:T:G	K66N	0.973
4:88521619:G:C	F57L	0.969
4:88521619:G:T	F57L	0.969
4:88521621:A:G	F57L	0.969
4:88521600:C:G	G64R	0.965
4:88521588:A:C	F68V	0.963
4:88521638:A:C	I51R	0.963
4:88521587:A:C	F68C	0.961
4:88521664:A:C	F42L	0.961
4:88521664:A:T	F42L	0.961
4:88521666:A:G	F42L	0.961
4:88521653:A:T	L46H	0.956
4:88521658:G:C	S44R	0.954
4:88521658:G:T	S44R	0.954
4:88521660:T:G	S44R	0.954
4:88521593:T:A	K66I	0.953
4:88521735:C:G	G19R	0.953
4:88521735:C:T	G19R	0.953
4:88521644:A:T	I49N	0.949
4:88521622:G:C	F56L	0.948
4:88521622:G:T	F56L	0.948

dbSNP variants (sampled 300 via entrez): RS1000114967 (4:88524116 A>G), RS1001758000 (4:88522465 G>A), RS1002219622 (4:88520843 G>C), RS1002830216 (4:88524919 T>C), RS1002909692 (4:88523771 G>C,T), RS1002960516 (4:88524597 G>A), RS1004315038 (4:88520856 C>T), RS1004791959 (4:88524244 G>T), RS1005938437 (4:88524735 G>A,C), RS1006383836 (4:88525002 G>GT), RS1007645802 (4:88523822 C>G,T), RS1007950891 (4:88521933 C>A), RS1008028290 (4:88523657 C>A,T), RS1008397665 (4:88522297 T>C), RS1009023330 (4:88524010 T>C)

Disease associations

OMIM: gene MIM:610662 | disease phenotypes: MIM:616809

GenCC curated gene-disease

Disease	Classification	Inheritance
hyperphosphatasia with intellectual disability syndrome 6	Strong	Autosomal recessive
hyperphosphatasia-intellectual disability syndrome	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
hyperphosphatasia with intellectual disability syndrome 6	Limited	AR

Mondo (3): hyperphosphatasia with intellectual disability syndrome 6 (MONDO:0014780), mitochondrial disease (MONDO:0044970), hyperphosphatasia-intellectual disability syndrome (MONDO:0016596)

Orphanet (2): Hyperphosphatasia-intellectual disability syndrome (Orphanet:247262), Mitochondrial disease (Orphanet:68380)

HPO phenotypes

99 total (30 of 99 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000126	Hydronephrosis
HP:0000193	Bifid uvula
HP:0000218	High palate
HP:0000248	Brachycephaly
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000289	Broad philtrum
HP:0000303	Mandibular prognathia
HP:0000311	Round face
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000341	Narrow forehead
HP:0000347	Micrognathia
HP:0000378	Cupped ear
HP:0000391	Thickened helices
HP:0000414	Bulbous nose
HP:0000426	Prominent nasal bridge
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000490	Deeply set eye
HP:0000505	Visual impairment
HP:0000519	Developmental cataract
HP:0000540	Hypermetropia
HP:0000565	Esotropia
HP:0000582	Upslanted palpebral fissure
HP:0000594	Shallow anterior chamber
HP:0000637	Long palpebral fissure

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001647_7	Bipolar disorder	7.000000e-06
GCST005956_59	Waist-to-hip ratio adjusted for BMI	5.000000e-08
GCST005957_14	Waist-to-hip ratio adjusted for BMI (age <50)	2.000000e-06
GCST005962_35	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	2.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
arsenite	affects binding, increases reaction	1
perfluorooctanoic acid	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	affects expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, increases expression	1
Gold	decreases expression	1
Smoke	decreases expression	1
Valproic Acid	increases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	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