B4GALNT4

Summary

B4GALNT4 (beta-1,4-N-acetyl-galactosaminyltransferase 4, HGNC:26315) is a protein-coding gene on chromosome 11p15.5, encoding N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 (Q76KP1). Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N’-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans.

Enables acetylgalactosaminyltransferase activity. Predicted to be located in Golgi cisterna membrane.

Source: NCBI Gene 338707 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 239 total
• MANE Select transcript: NM_178537

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26315
Approved symbol	B4GALNT4
Name	beta-1,4-N-acetyl-galactosaminyltransferase 4
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25045, NGalNAc-T1
Ensembl gene	ENSG00000182272
Ensembl biotype	protein_coding
OMIM	618560
Entrez	338707

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000329962, ENST00000524443, ENST00000526584, ENST00000530717, ENST00000534778, ENST00000940110, ENST00000940111, ENST00000940112, ENST00000958308

RefSeq mRNA: 1 — MANE Select: NM_178537 NM_178537

CCDS: CCDS7694

Canonical transcript exons

ENST00000329962 — 20 exons

Exon	Start	End
ENSE00001300327	380130	380202
ENSE00001308961	379418	379701
ENSE00001309479	379866	380019
ENSE00001330059	376421	377327
ENSE00001363959	373750	373828
ENSE00001365167	369499	369954
ENSE00001365279	373026	373116
ENSE00001365695	375847	375956
ENSE00001365894	376251	376351
ENSE00001370533	375639	375773
ENSE00001372415	373449	373516
ENSE00001375220	372852	372947
ENSE00001380062	372662	372754
ENSE00001382984	376074	376174
ENSE00001386501	373191	373291
ENSE00002169286	381669	382117
ENSE00003541639	372109	372212
ENSE00003561511	375461	375527
ENSE00003634938	380292	380445
ENSE00003693205	380825	380951

Expression profiles

Bgee: expression breadth ubiquitous, 158 present calls, max score 98.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.7768 / max 178.9838, expressed in 1055 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112188	8.6796	1053
112187	0.0971	42

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	98.47	gold quality
right frontal lobe	UBERON:0002810	98.04	gold quality
cerebellar hemisphere	UBERON:0002245	98.01	gold quality
cortical plate	UBERON:0005343	97.85	gold quality
cerebellar cortex	UBERON:0002129	97.71	gold quality
ganglionic eminence	UBERON:0004023	97.57	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.45	gold quality
anterior cingulate cortex	UBERON:0009835	96.92	gold quality
ventricular zone	UBERON:0003053	96.12	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.75	silver quality
cerebellum	UBERON:0002037	94.54	gold quality
amygdala	UBERON:0001876	93.99	gold quality
hypothalamus	UBERON:0001898	93.98	gold quality
sural nerve	UBERON:0015488	93.94	gold quality
left ovary	UBERON:0002119	93.60	gold quality
prefrontal cortex	UBERON:0000451	93.47	gold quality
caudate nucleus	UBERON:0001873	92.90	gold quality
nucleus accumbens	UBERON:0001882	92.89	gold quality
putamen	UBERON:0001874	92.74	gold quality
tibial nerve	UBERON:0001323	92.42	gold quality
right ovary	UBERON:0002118	92.14	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.42	gold quality
spinal cord	UBERON:0002240	90.34	gold quality
adenohypophysis	UBERON:0002196	90.09	gold quality
neocortex	UBERON:0001950	89.50	gold quality
lower esophagus mucosa	UBERON:0035834	89.08	gold quality
frontal cortex	UBERON:0001870	88.45	gold quality
left uterine tube	UBERON:0001303	88.16	gold quality
endocervix	UBERON:0000458	87.61	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-9154	yes	478.27
E-GEOD-36552	no	86.94
E-ANND-3	no	3.37

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting B4GALNT4, 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-513A-5P	100.00	69.77	2465
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-3606-3P	99.11	69.84	3254
HSA-MIR-3144-5P	97.64	65.45	646
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-1298-5P	95.96	64.81	573

Literature-anchored findings (GeneRIF, showing 6)

• molecular cloning and characterization; specificity toward oligosaccharide acceptor substrates was quite similar to beta4GalNAc-T3 in vitro but the tissue distributions of the two enzymes were quite different (PMID:15044014)
• betaGT3 and betaGT4, that are able to transfer GalNAc to GlcNAc in beta1,4-linkage display the necessary glycoprotein specificity in vivo. (PMID:18048353)
• Molecular basis for protein-specific transfer of N-acetylgalactosamine to N-linked glycans by the glycosyltransferases beta1,4-N-acetylgalactosaminyl transferase 3 (beta4GalNAc-T3) and beta4GalNAc-T4. (PMID:22722937)
• Peptide-specific transfer of N-acetylgalactosamine to O-linked glycans by the glycosyltransferases beta1,4-N-acetylgalactosaminyl transferase 3 (beta4GalNAc-T3) and beta4GalNAc-T4. (PMID:22722940)
• These results indicate that the expression of the LacdiNAc group is quite important for the suppression of malignancies of the MDA-MB-231 cells. (PMID:25858323)
• Expression and Malignant Potential of B4GALNT4 in Esophageal Squamous Cell Carcinoma. (PMID:32253672)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	b4galnt4a	ENSDARG00000046150
danio_rerio	b4galnt4b	ENSDARG00000076701
mus_musculus	B4galnt4	ENSMUSG00000055629
rattus_norvegicus	B4galnt4	ENSRNOG00000053075

Paralogs (7): CHPF2 (ENSG00000033100), CHPF (ENSG00000123989), CHSY1 (ENSG00000131873), B4GALNT3 (ENSG00000139044), CSGALNACT1 (ENSG00000147408), CSGALNACT2 (ENSG00000169826), CHSY3 (ENSG00000198108)

Protein

Protein identifiers

N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 — Q76KP1 (reviewed: Q76KP1)

Alternative names: Beta-1,4-N-acetylgalactosaminyltransferase IV

All UniProt accessions (3): Q76KP1, H0YCU7, H0YDW6

UniProt curated annotations — full annotation on UniProt →

Function. Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N’-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans.

Subcellular location. Golgi apparatus. Golgi stack membrane.

Tissue specificity. Highly expressed in ovary, adult and fetal brain. Also expressed in fetal kidney and lung.

Similarity. Belongs to the chondroitin N-acetylgalactosaminyltransferase family.

RefSeq proteins (1): NP_848632* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008428	Chond_GalNAc	Family
IPR011658	PA14_dom	Domain
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR037524	PA14/GLEYA	Domain
IPR051227	CS_glycosyltransferase	Family

Pfam: PF05679

Enzyme classification (BRENDA):

• EC 2.4.1.244 — N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase (BRENDA: 3 organisms, 33 substrates, 1 inhibitors, 0 Km, 0 kcat entries)
• EC 2.4.1.92 — (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (BRENDA: 8 organisms, 60 substrates, 14 inhibitors, 20 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

11 substrates with measured Km, best-characterized 11. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-N-ACETYL-D-GALACTOSAMINE	0.007–0.082	6
GM3	0.0166–0.19	3
UDP-GALNAC	0.097–0.19	2
GANGLIOSIDE GD3	0.152	1
GANGLIOSIDE GM3	0.385	1
GD3(N-ACETYLNEURAMINIC ACID)	0.35	1
GD3(N-GLYCOLYLNEURAMINIC ACID)-GANGLIOSIDE	0.027	1
GM3(N-ACETYLNEURAMINIC ACID)	2.1	1
GM3(N-GLYCOLYLNEURAMINIC ACID)	0.16	1
P-NITROPHENYL-GLCNAC	0.38	1
UDP-N-ACETYLGALACTOSAMINE	1.64	1

Catalyzed reactions (Rhea), 1 shown:

• an N-acetyl-beta-D-glucosaminyl derivative + UDP-N-acetyl-alpha-D-galactosamine = an N-acetyl-beta-D-galactosaminyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP + H(+) (RHEA:20493)

UniProt features (20 total): compositionally biased region 6, region of interest 5, topological domain 2, sequence variant 2, chain 1, glycosylation site 1, sequence conflict 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q76KP1-F1	70.89	0.47

Functional residue map

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

Glycosylation sites (1): 105

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 84 (showing top): GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOCC_GOLGI_STACK, GOCC_GOLGI_CISTERNA, GOCC_GOLGI_CISTERNA_MEMBRANE, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_UDP_GLYCOSYLTRANSFERASE_ACTIVITY, LI_INDUCED_T_TO_NATURAL_KILLER_UP, MARTENS_TRETINOIN_RESPONSE_UP, CHYLA_CBFA2T3_TARGETS_UP, WANG_MLL_TARGETS, KRIEG_HYPOXIA_NOT_VIA_KDM3A, GSE13522_WT_VS_IFNAR_KO_SKIN_DN

GO Biological Process (0):

GO Molecular Function (3): acetylgalactosaminyltransferase activity (GO:0008376), N-acetyl-beta-glucosaminyl-derivative 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842), transferase activity (GO:0016740)

GO Cellular Component (3): Golgi cisterna membrane (GO:0032580), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
UDP-glycosyltransferase activity	1
hexosyltransferase activity	1
acetylgalactosaminyltransferase activity	1
catalytic activity	1
organelle membrane	1
Golgi cisterna	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

600 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
B4GALNT4	PGGHG	Q32M88	705
B4GALNT4	TTF2	Q9UNY4	389
B4GALNT4	TMEM178B	H3BS89	384
B4GALNT4	TMEM254	Q8TBM7	377
B4GALNT4	ZNF614	Q8N883	357
B4GALNT4	IFITM3	Q01628	348
B4GALNT4	IFITM2	Q01629	348
B4GALNT4	ST6GAL2	Q96JF0	326
B4GALNT4	B4GALNT1	Q00973	324
B4GALNT4	PATE2	Q6UY27	323
B4GALNT4	CCDC9	Q9Y3X0	322
B4GALNT4	ST3GAL5	Q9UNP4	320
B4GALNT4	B3GALT4	O96024	319
B4GALNT4	GALNT18	Q6P9A2	318
B4GALNT4	YPEL4	Q96NS1	312

IntAct

11 interactions, top by confidence:

A	B	Type	Score
ANTXR1	POTEF	psi-mi:“MI:0914”(association)	0.530
HTRA1	B4GALNT4	psi-mi:“MI:0915”(physical association)	0.370
INSL5	LAMA5	psi-mi:“MI:0914”(association)	0.350
LYZL2	MANBA	psi-mi:“MI:0914”(association)	0.350
PILRA	PODXL	psi-mi:“MI:0914”(association)	0.350
CSN1S1	HSPA5	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
C1orf54	AGRN	psi-mi:“MI:0914”(association)	0.350
PILRA	NID2	psi-mi:“MI:0914”(association)	0.350
DISC1	B4GALNT4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): B4GALNT4 (Affinity Capture-MS), B4GALNT4 (Affinity Capture-MS), B4GALNT4 (Affinity Capture-MS), B4GALNT4 (Affinity Capture-MS), B4GALNT4 (Affinity Capture-MS), B4GALNT4 (Affinity Capture-MS), B4GALNT4 (Affinity Capture-MS), B4GALNT4 (Affinity Capture-MS), B4GALNT4 (Affinity Capture-MS), B4GALNT4 (Affinity Capture-RNA)

ESM2 similar proteins: A0JPN4, A1YF56, A2A288, A2A9T0, A2AEV7, A6QQJ8, A7MCY6, A8MVW0, D3ZG83, D3ZZN9, O09039, O15037, O75427, O94983, O95382, O95947, P0C5W1, P98077, Q02779, Q16584, Q2M3V2, Q53LP3, Q5D1E7, Q5D1E8, Q66HA1, Q66K74, Q66L42, Q6DG50, Q6ZUM4, Q6ZW31, Q76KP1, Q7T0L4, Q7TSG2, Q80XI6, Q80Y50, Q8BIY3, Q8BLS7, Q8K120, Q8K1S6, Q8R5G7

Diamond homologs: Q6L8S8, Q6L9W6, Q766D5, Q76KP1, Q0VC84, Q5DTK1, Q6ZQ11, Q70JA7, Q7Z1Z1, Q86X52, Q8BJQ9, Q8C1F4, Q8N6G5, Q8TDX6, Q9JJ05, Q9JJ06, Q9NS00

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	195
Likely benign	13
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

3093 predictions. Top by Δscore:

Variant	Effect	Δscore
11:369950:GCGAG:G	donor_gain	1.0000
11:369952:GAG:G	donor_gain	1.0000
11:369954:GGTA:G	donor_loss	1.0000
11:369955:G:C	donor_loss	1.0000
11:369955:G:GG	donor_gain	1.0000
11:369956:T:A	donor_loss	1.0000
11:372656:CTGCA:C	acceptor_gain	1.0000
11:372657:T:TA	acceptor_gain	1.0000
11:372657:TGCA:T	acceptor_gain	1.0000
11:372658:GCAGC:G	acceptor_gain	1.0000
11:372659:CAGCC:C	acceptor_gain	1.0000
11:372660:A:AG	acceptor_gain	1.0000
11:372660:AGCC:A	acceptor_gain	1.0000
11:372660:AGCCC:A	acceptor_gain	1.0000
11:372661:G:A	acceptor_gain	1.0000
11:372661:G:GT	acceptor_gain	1.0000
11:372661:GC:G	acceptor_gain	1.0000
11:372661:GCC:G	acceptor_gain	1.0000
11:372661:GCCC:G	acceptor_gain	1.0000
11:372661:GCCCG:G	acceptor_gain	1.0000
11:372751:GGAG:G	donor_gain	1.0000
11:372752:G:GT	donor_gain	1.0000
11:372752:GAGG:G	donor_loss	1.0000
11:372755:G:GA	donor_loss	1.0000
11:372756:T:G	donor_loss	1.0000
11:373025:GACGC:G	acceptor_gain	1.0000
11:373113:G:T	donor_gain	1.0000
11:373820:G:GT	donor_gain	1.0000
11:373825:GGGC:G	donor_gain	1.0000
11:373826:GGCG:G	donor_gain	1.0000

AlphaMissense

6705 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:373463:G:C	W217C	0.999
11:373463:G:T	W217C	0.999
11:376140:T:A	C388S	0.999
11:376140:T:C	C388R	0.999
11:376141:G:C	C388S	0.999
11:376142:C:G	C388W	0.999
11:377169:G:C	W682C	0.999
11:377169:G:T	W682C	0.999
11:377236:T:C	C705R	0.999
11:377238:C:G	C705W	0.999
11:377248:G:T	G709W	0.999
11:377253:C:A	N710K	0.999
11:377253:C:G	N710K	0.999
11:380845:T:C	F964L	0.999
11:380847:T:A	F964L	0.999
11:380847:T:G	F964L	0.999
11:380908:T:C	F985L	0.999
11:380909:T:C	F985S	0.999
11:380909:T:G	F985C	0.999
11:380910:C:A	F985L	0.999
11:380910:C:G	F985L	0.999
11:380920:T:A	W989R	0.999
11:380920:T:C	W989R	0.999
11:380922:G:C	W989C	0.999
11:380922:G:T	W989C	0.999
11:380933:A:T	D993V	0.999
11:380935:T:A	W994R	0.999
11:380935:T:C	W994R	0.999
11:380937:G:C	W994C	0.999
11:380937:G:T	W994C	0.999

dbSNP variants (sampled 300 via entrez): RS1000273459 (11:376375 C>T), RS1000429010 (11:380122 C>G,T), RS1000436225 (11:371929 G>A,C,T), RS1000819402 (11:381836 C>G), RS1000891739 (11:372214 T>A), RS1001273630 (11:371586 C>T), RS1001483034 (11:379193 GC>G), RS1001513325 (11:369755 G>A,C,T), RS1001593078 (11:374496 CAG>C), RS1001755377 (11:369978 G>A,C,T), RS1001984944 (11:381283 A>G), RS1002371336 (11:378365 C>T), RS1002516120 (11:368381 G>A), RS1003139767 (11:374433 T>A), RS1003401989 (11:375264 C>T)

Disease associations

OMIM: gene MIM:618560 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): developmental and epileptic encephalopathy (MONDO:0100620)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010244_208	Triglyceride levels	1.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, increases expression, affects methylation, increases abundance	3
Valproic Acid	increases methylation	3
Particulate Matter	increases expression, decreases expression, increases abundance	2
dicrotophos	decreases expression	1
bisphenol A	decreases methylation	1
kojic acid	decreases expression	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	increases methylation	1
maleic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Arbutin	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	increases expression	1
Cisplatin	decreases expression	1
Methapyrilene	increases methylation	1
Ozone	increases abundance, affects methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	increases expression	1
Urethane	decreases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SE52	HAP1 B4GALNT4 (-) 1	Cancer cell line	Male
CVCL_SE53	HAP1 B4GALNT4 (-) 2	Cancer cell line	Male

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
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NCT06380192	Not specified	RECRUITING	Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
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