MRGBP

Summary

MRGBP (MRG domain binding protein, HGNC:15866) is a protein-coding gene on chromosome 20q13.33, encoding MRG/MORF4L-binding protein (Q9NV56). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. It is a selective cancer dependency (DepMap: 87.8% of cell lines).

Involved in positive regulation of double-strand break repair via homologous recombination and regulation of cell cycle. Located in nucleoplasm. Part of NuA4 histone acetyltransferase complex and nucleosome.

Source: NCBI Gene 55257 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 20 total
• Cancer dependency (DepMap): dependent in 87.8% of screened cell lines
• MANE Select transcript: NM_018270

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15866
Approved symbol	MRGBP
Name	MRG domain binding protein
Location	20q13.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10914, MRG15BP, Eaf7
Ensembl gene	ENSG00000101189
Ensembl biotype	protein_coding
OMIM	611157
Entrez	55257

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000370487, ENST00000885295, ENST00000950648

RefSeq mRNA: 1 — MANE Select: NM_018270 NM_018270

CCDS: CCDS13503

Canonical transcript exons

ENST00000370487 — 5 exons

Exon	Start	End
ENSE00000663292	62797110	62797231
ENSE00000663293	62798587	62798668
ENSE00000663294	62798975	62799049
ENSE00001452852	62799456	62801729
ENSE00001452855	62796473	62796671

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 93.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.5206 / max 139.3853, expressed in 1804 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
185757	17.5206	1804

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	93.58	gold quality
left testis	UBERON:0004533	93.51	gold quality
right testis	UBERON:0004534	93.25	gold quality
testis	UBERON:0000473	92.07	gold quality
male germ cell	CL:0000015	91.76	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.12	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.19	gold quality
ganglionic eminence	UBERON:0004023	82.95	gold quality
apex of heart	UBERON:0002098	82.77	gold quality
stromal cell of endometrium	CL:0002255	82.37	gold quality
granulocyte	CL:0000094	82.14	gold quality
ventricular zone	UBERON:0003053	81.68	gold quality
right lobe of liver	UBERON:0001114	81.66	gold quality
hindlimb stylopod muscle	UBERON:0004252	81.33	gold quality
left ovary	UBERON:0002119	80.61	gold quality
gastrocnemius	UBERON:0001388	80.50	gold quality
right ovary	UBERON:0002118	80.14	gold quality
muscle of leg	UBERON:0001383	80.11	gold quality
mucosa of stomach	UBERON:0001199	79.95	gold quality
mucosa of transverse colon	UBERON:0004991	79.89	gold quality
leukocyte	CL:0000738	79.77	gold quality
heart left ventricle	UBERON:0002084	79.76	gold quality
monocyte	CL:0000576	79.70	gold quality
muscle layer of sigmoid colon	UBERON:0035805	79.67	gold quality
mononuclear cell	CL:0000842	79.64	gold quality
cardiac ventricle	UBERON:0002082	79.53	gold quality
ovary	UBERON:0000992	79.43	gold quality
lower esophagus	UBERON:0013473	79.05	gold quality
lower esophagus muscularis layer	UBERON:0035833	79.05	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	78.99	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-7606	no	128.77
E-ANND-3	no	2.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting MRGBP, 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-190A-3P	100.00	80.35	5520
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-2113	99.58	71.22	1521
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-6868-5P	99.06	65.69	1284
HSA-MIR-628-3P	99.04	68.37	814

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 87.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 7)

• MRGBP is encoded by the FLJ10914 ORF and is a new component of the TRRAP/TIP60 HAT complex (PMID:12963728)
• These results suggest that C20orf20 protein has an important function in proliferation of cancer cells through the regulation of BRD8 protein. (PMID:20051959)
• MRGBP contributes to colorectal carcinogenesis through rendering advantages in cell proliferation and/or division of cancer cells. (PMID:21535316)
• role in tumorogenesis of cutaneous squamous cell carcinoma (PMID:21602893)
• MRGBP, a member of the NuA4 complex, inhibits DNA double-strand break repair. (PMID:33354938)
• MRGBP is a potential novel prognostic biomarker and is correlated with immune infiltrates in hepatocellular carcinoma. (PMID:33761715)
• MRGBP promotes colorectal cancer metastasis via DKK1/Wnt/beta-catenin and NF-kB/p65 pathways mediated EMT. (PMID:36208716)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrgbp	ENSDARG00000028894
mus_musculus	Mrgbp	ENSMUSG00000027569
rattus_norvegicus	Mrgbp	ENSRNOG00000059891
drosophila_melanogaster	MrgBP	FBGN0033341

Protein

Protein identifiers

MRG/MORF4L-binding protein — Q9NV56 (reviewed: Q9NV56)

Alternative names: MRG-binding protein, Up-regulated in colon cancer 4

All UniProt accessions (1): Q9NV56

UniProt curated annotations — full annotation on UniProt →

Function. Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage.

Subunit / interactions. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. MRGBP may interact directly with MORF4L1/MRG15 and MORF4L2/MRGX.

Subcellular location. Nucleus.

Similarity. Belongs to the EAF7 family.

RefSeq proteins (1): NP_060740* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012423	Eaf7/MRGBP	Family

Pfam: PF07904

UniProt features (19 total): modified residue 5, helix 4, compositionally biased region 4, region of interest 2, initiator methionine 1, chain 1, cross-link 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2N1D	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NV56-F1	67.25	0.17

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 (6): 23, 191, 195, 127, 2, 22

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-3214847	HATs acetylate histones
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-4839726	Chromatin organization

MSigDB gene sets: 115 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, ACTGCAG_MIR173P, GOBP_REGULATION_OF_DNA_REPAIR, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_DNA_REPAIR, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS, GOBP_POSITIVE_REGULATION_OF_DNA_RECOMBINATION, LOPEZ_MESOTHELIOMA_SURVIVAL_WORST_VS_BEST_UP, GOBP_RECOMBINATIONAL_REPAIR, MODULE_48

GO Biological Process (8): chromatin organization (GO:0006325), regulation of transcription by RNA polymerase II (GO:0006357), regulation of apoptotic process (GO:0042981), positive regulation of DNA-templated transcription (GO:0045893), regulation of cell cycle (GO:0051726), positive regulation of double-strand break repair via homologous recombination (GO:1905168), regulation of double-strand break repair (GO:2000779), regulation of DNA-templated transcription (GO:0006355)

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

GO Cellular Component (5): nucleosome (GO:0000786), nucleoplasm (GO:0005654), NuA4 histone acetyltransferase complex (GO:0035267), nucleus (GO:0005634), H4/H2A histone acetyltransferase complex (GO:0043189)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Chromatin organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
DNA-templated transcription	2
cellular component organization	1
transcription by RNA polymerase II	1
apoptotic process	1
regulation of programmed cell death	1
positive regulation of RNA biosynthetic process	1
cell cycle	1
regulation of cellular process	1
double-strand break repair via homologous recombination	1
regulation of double-strand break repair via homologous recombination	1
positive regulation of DNA recombination	1
positive regulation of double-strand break repair	1
regulation of DNA repair	1
double-strand break repair	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
binding	1
chromatin	1
protein-DNA complex	1
nuclear lumen	1
cellular anatomical structure	1
H4/H2A histone acetyltransferase complex	1
intracellular membrane-bounded organelle	1
H4 histone acetyltransferase complex	1

Protein interactions and networks

STRING

1210 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRGBP	MORF4L1	Q9UBU8	998
MRGBP	MORF4L2	Q15014	991
MRGBP	TRRAP	Q9Y4A5	947
MRGBP	YEATS4	O95619	920
MRGBP	DMAP1	Q9NPF5	910
MRGBP	KAT5	Q92993	872
MRGBP	MEAF6	Q9HAF1	866
MRGBP	BRD8	Q9H0E9	804
MRGBP	ING3	Q9NXR8	754
MRGBP	RUVBL1	P82276	717
MRGBP	EPC1	Q9H2F5	714
MRGBP	RUVBL2	Q9Y230	708
MRGBP	TADA3	O75528	703
MRGBP	MRFAP1	Q9Y605	703
MRGBP	EPC2	Q52LR7	650

IntAct

136 interactions, top by confidence:

A	B	Type	Score
MRGBP	MORF4L2	psi-mi:“MI:0915”(physical association)	0.940
MORF4L2	MRGBP	psi-mi:“MI:0915”(physical association)	0.940
MRGBP	MORF4L1	psi-mi:“MI:0915”(physical association)	0.910
MORF4L1	MRGBP	psi-mi:“MI:0915”(physical association)	0.900
MRGBP	MORF4L1	psi-mi:“MI:0915”(physical association)	0.900
MORF4L1	MRGBP	psi-mi:“MI:0407”(direct interaction)	0.900
RUVBL1	ZNHIT1	psi-mi:“MI:0914”(association)	0.860
MRGBP	YEATS4	psi-mi:“MI:0914”(association)	0.840
RUVBL2	ZNHIT1	psi-mi:“MI:0914”(association)	0.810
MRGBP	KAT5	psi-mi:“MI:0914”(association)	0.790
MRGBP	KAT5	psi-mi:“MI:0915”(physical association)	0.790
YEATS4	ZNHIT1	psi-mi:“MI:0914”(association)	0.790
H2AZ1	ZNHIT1	psi-mi:“MI:0914”(association)	0.770
MED23	MED19	psi-mi:“MI:2364”(proximity)	0.770
MRGBP	ACTL6A	psi-mi:“MI:0914”(association)	0.760

BioGRID (227): MRGBP (Two-hybrid), MRGBP (Two-hybrid), KRTAP10-7 (Two-hybrid), NOTCH2NL (Two-hybrid), MRGBP (Two-hybrid), MRGBP (Affinity Capture-MS), MRGBP (Affinity Capture-MS), MRGBP (Affinity Capture-MS), MRGBP (Affinity Capture-MS), MRGBP (Affinity Capture-MS), MRGBP (Affinity Capture-MS), MRGBP (Affinity Capture-MS), MRGBP (Affinity Capture-MS), MRGBP (Affinity Capture-MS), MRGBP (Affinity Capture-MS)

ESM2 similar proteins: A2XKR7, A2YGL9, B1B5D3, B1B5D4, B1B5D5, B4FAF3, B4FT40, C0RWW9, C0SUU6, F4I7L1, F4K5T4, O80450, P0DKL0, P46600, P46602, P46603, P46604, P46665, P46667, Q05466, Q0JCC3, Q10F25, Q10Q07, Q338B0, Q339W7, Q53KK6, Q53KW9, Q5Z6F6, Q657C0, Q6VBB2, Q6WS85, Q7Y214, Q84MN7, Q8H1D7, Q8VYD2, Q8VZ20, Q8W4L5, Q944N1, Q94F39, Q9ASZ1

Diamond homologs: O42924, Q5A6Q7, Q6BKL0, Q6CF40, Q6CX31, Q9DAT2, Q9NV56, P53911

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRGBP	“form complex”	“NuA4 complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 82 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
HATs acetylate histones	18	25.0×	2e-18
Chromatin organization	11	15.7×	1e-08
Formation of the beta-catenin:TCF transactivating complex	7	14.8×	4e-05
Chromatin modifying enzymes	11	13.9×	3e-08
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	5	12.8×	3e-03
G2/M DNA damage checkpoint	5	10.5×	5e-03
DNA Repair	5	8.6×	7e-03
Viral Infection Pathways	8	4.3×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of double-strand break repair	16	125.6×	1e-28
positive regulation of double-strand break repair via homologous recombination	16	82.8×	3e-25
regulation of DNA replication	6	29.7×	3e-06
cellular response to estradiol stimulus	5	27.8×	5e-05
regulation of apoptotic process	21	23.7×	2e-21
regulation of cell cycle	18	18.1×	5e-16
double-strand break repair via homologous recombination	6	12.7×	4e-04
chromatin remodeling	12	11.8×	3e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

944 predictions. Top by Δscore:

Variant	Effect	Δscore
20:62796668:GTCG:G	donor_gain	1.0000
20:62797107:CAG:C	acceptor_loss	1.0000
20:62797108:A:AG	acceptor_gain	1.0000
20:62797108:A:G	acceptor_loss	1.0000
20:62797109:G:GG	acceptor_gain	1.0000
20:62797109:GGT:G	acceptor_gain	1.0000
20:62797232:G:GG	donor_gain	1.0000
20:62798585:A:AG	acceptor_gain	1.0000
20:62798585:AGCAT:A	acceptor_gain	1.0000
20:62798586:G:GA	acceptor_gain	1.0000
20:62798586:GC:G	acceptor_gain	1.0000
20:62798586:GCAT:G	acceptor_gain	1.0000
20:62798586:GCATG:G	acceptor_gain	1.0000
20:62799045:CGATG:C	donor_gain	1.0000
20:62799046:GATG:G	donor_gain	1.0000
20:62799046:GATGG:G	donor_gain	1.0000
20:62799047:ATG:A	donor_gain	1.0000
20:62799047:ATGG:A	donor_loss	1.0000
20:62799048:TG:T	donor_gain	1.0000
20:62799048:TGG:T	donor_loss	1.0000
20:62799049:GG:G	donor_gain	1.0000
20:62799050:G:GG	donor_gain	1.0000
20:62799051:T:A	donor_loss	1.0000
20:62799454:A:AG	acceptor_gain	1.0000
20:62799455:G:GG	acceptor_gain	1.0000
20:62799455:GT:G	acceptor_gain	1.0000
20:62799455:GTT:G	acceptor_gain	1.0000
20:62799455:GTTT:G	acceptor_gain	1.0000
20:62796627:TGG:T	donor_gain	0.9900
20:62796664:GCCC:G	donor_gain	0.9900

AlphaMissense

1360 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:62796614:T:A	W31R	1.000
20:62796614:T:C	W31R	1.000
20:62796616:G:C	W31C	1.000
20:62796616:G:T	W31C	1.000
20:62796629:G:A	E36K	1.000
20:62796639:T:A	L39H	1.000
20:62796639:T:C	L39P	1.000
20:62796641:T:A	F40I	1.000
20:62796641:T:C	F40L	1.000
20:62796641:T:G	F40V	1.000
20:62796642:T:C	F40S	1.000
20:62796642:T:G	F40C	1.000
20:62796643:C:A	F40L	1.000
20:62796643:C:G	F40L	1.000
20:62796644:C:G	H41D	1.000
20:62796647:G:C	A42P	1.000
20:62796648:C:A	A42D	1.000
20:62796648:C:T	A42V	1.000
20:62796651:T:A	M43K	1.000
20:62796651:T:C	M43T	1.000
20:62796651:T:G	M43R	1.000
20:62796656:G:C	G45R	1.000
20:62796657:G:A	G45D	1.000
20:62796657:G:T	G45V	1.000
20:62796659:C:G	H46D	1.000
20:62796662:A:G	K47E	1.000
20:62796663:A:T	K47M	1.000
20:62796664:G:C	K47N	1.000
20:62796664:G:T	K47N	1.000
20:62796665:C:A	P48T	1.000

dbSNP variants (sampled 300 via entrez): RS1000031625 (20:62802126 C>G), RS1000078923 (20:62795571 G>A), RS1000325278 (20:62797301 G>A,C,T), RS1001401289 (20:62794730 G>A), RS1002384446 (20:62796845 C>A), RS1002431936 (20:62796300 T>G), RS1002482809 (20:62796057 G>A), RS1002765943 (20:62794859 G>T), RS1002821671 (20:62794590 G>A,C), RS1002928406 (20:62800764 C>G,T), RS1004507824 (20:62797606 G>A), RS1004546073 (20:62801546 C>A,T), RS1005524593 (20:62801086 G>A), RS1005774724 (20:62795538 G>A,C), RS1005811928 (20:62801218 A>G)

Disease associations

OMIM: gene MIM:611157 | disease phenotypes: MIM:616409

GenCC curated gene-disease

Mondo (2): developmental and epileptic encephalopathy, 33 (MONDO:0014625), developmental and epileptic encephalopathy (MONDO:0100620)

Orphanet (1): Non-specific early-onset epileptic encephalopathy (Orphanet:442835)

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
ICG 001	decreases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	decreases phosphorylation	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Folic Acid	decreases expression	1
Ivermectin	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases methylation	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03347526	PHASE3	SUSPENDED	A Novel Approach to Infantile Spasms
NCT03421496	PHASE3	TERMINATED	A Study to Assess Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms
NCT06719141	PHASE3	RECRUITING	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)
NCT06908226	PHASE3	ENROLLING_BY_INVITATION	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
NCT04289467	PHASE2	RECRUITING	Treatment of Refractory Infantile Spasms With Fenfluramine
NCT05626634	PHASE2	COMPLETED	Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
NCT04727970	PHASE1	COMPLETED	Tricaprilin Infantile Spasms Pilot Study
NCT06700811	PHASE1	RECRUITING	Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
NCT03876444	PHASE2/PHASE3	UNKNOWN	Intravenous Methylprednisolone Versus Oral Prednisolone for Infantile Spasms
NCT05279118	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Ketogenic Diet vs ACTH for the Treatment of Children With West Syndrome
NCT05364021	PHASE1/PHASE2	COMPLETED	Study to Investigate LP352 in Subjects With Developmental and Epileptic Encephalopathies
NCT06983158	PHASE1/PHASE2	SUSPENDED	A Clinical Trial of CAP-002 Gene Therapy in Pediatric Patients With Syntaxin-Binding Protein 1 (STXBP1) Encephalopathy
NCT04937062	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
NCT04302116	Not specified	RECRUITING	Vigabatrin With High Dose Prednisolone Combination Therapy vs Vigabatrin Alone for Infantile Spasm
NCT05538936	Not specified	COMPLETED	The Effect of Spa and Massage on Babies on Colic Symptoms
NCT06149663	Not specified	AVAILABLE	Intermediate-Size Expanded Access Protocol (EAP) for LP352
NCT06266234	Not specified	RECRUITING	Characterization by Automated System on Infantile Spasmes
NCT06380192	Not specified	RECRUITING	Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
NCT07396883	Not specified	NOT_YET_RECRUITING	Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
NCT07413211	Not specified	RECRUITING	Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
NCT07531511	Not specified	NOT_YET_RECRUITING	SLC6A1-NDD Prospective Longitudinal Natural History Study
NCT07585643	Not specified	NOT_YET_RECRUITING	IBIS - Investigating Reliability of BIS and SEDLINE Monitoring in Children With Developmental and Epileptic Encephalopathies (DEE).