CDHR5

Summary

CDHR5 (cadherin related family member 5, HGNC:7521) is a protein-coding gene on chromosome 11p15.5, encoding Cadherin-related family member 5 (Q9HBB8). Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR2 on adjacent microvilli.

This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described.

Source: NCBI Gene 53841 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 221 total
• MANE Select transcript: NM_021924

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7521
Approved symbol	CDHR5
Name	cadherin related family member 5
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20219, MU-PCDH
Ensembl gene	ENSG00000099834
Ensembl biotype	protein_coding
OMIM	606839
Entrez	53841

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 31 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000349570, ENST00000358353, ENST00000397542, ENST00000526077, ENST00000529337, ENST00000531088, ENST00000531177, ENST00000531899, ENST00000532949, ENST00000534311, ENST00000674088, ENST00000872864, ENST00000872865, ENST00000872866, ENST00000872867, ENST00000872868, ENST00000872869, ENST00000872870, ENST00000872871, ENST00000872872, ENST00000872873, ENST00000872874, ENST00000872875, ENST00000872876, ENST00000872877, ENST00000872878, ENST00000872879, ENST00000872880, ENST00000872881, ENST00000872882, ENST00000872883, ENST00000872884, ENST00000954966, ENST00000954967, ENST00000954968

RefSeq mRNA: 3 — MANE Select: NM_021924 NM_001171968, NM_021924, NM_031264

CCDS: CCDS7707, CCDS7708, CCDS91397

Canonical transcript exons

ENST00000397542 — 15 exons

Exon	Start	End
ENSE00001529139	616583	617770
ENSE00003462077	617954	618111
ENSE00003481439	619306	619390
ENSE00003529989	621080	621250
ENSE00003533200	620296	620386
ENSE00003540790	621562	621663
ENSE00003541979	624818	624955
ENSE00003543780	621812	621904
ENSE00003554698	624557	624732
ENSE00003566387	619474	619587
ENSE00003569169	620067	620164
ENSE00003585889	621345	621455
ENSE00003631793	624213	624263
ENSE00003662113	619681	619881
ENSE00003672988	618599	619180

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 99.50.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 5.5208 / max 2850.6252, expressed in 98 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117798	5.3199	67
117794	0.1246	35
117793	0.0213	11
117791	0.0180	6
117792	0.0179	10
206073	0.0097	6
117799	0.0093	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	99.50	gold quality
mucosa of transverse colon	UBERON:0004991	98.75	gold quality
rectum	UBERON:0001052	98.13	gold quality
right lobe of liver	UBERON:0001114	97.32	gold quality
liver	UBERON:0002107	97.06	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.96	gold quality
small intestine	UBERON:0002108	93.71	gold quality
adult mammalian kidney	UBERON:0000082	91.37	gold quality
transverse colon	UBERON:0001157	91.28	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.50	silver quality
kidney	UBERON:0002113	86.83	gold quality
colonic epithelium	UBERON:0000397	84.20	gold quality
intestine	UBERON:0000160	84.15	gold quality
gall bladder	UBERON:0002110	83.07	gold quality
sural nerve	UBERON:0015488	82.01	gold quality
vermiform appendix	UBERON:0001154	80.85	gold quality
colon	UBERON:0001155	80.38	gold quality
cortex of kidney	UBERON:0001225	77.83	gold quality
islet of Langerhans	UBERON:0000006	73.36	gold quality
metanephros cortex	UBERON:0010533	72.89	gold quality
stomach	UBERON:0000945	69.35	gold quality
body of stomach	UBERON:0001161	68.89	gold quality
bone marrow cell	CL:0002092	68.53	silver quality
pancreas	UBERON:0001264	68.06	gold quality
smooth muscle tissue	UBERON:0001135	66.64	gold quality
fundus of stomach	UBERON:0001160	66.56	gold quality
muscle layer of sigmoid colon	UBERON:0035805	64.95	gold quality
body of pancreas	UBERON:0001150	64.55	gold quality
adrenal tissue	UBERON:0018303	63.95	gold quality
bone marrow	UBERON:0002371	63.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	30.17
E-ANND-3	yes	15.99

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF4A

miRNA regulators (miRDB)

14 targeting CDHR5, 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-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-3199	99.17	65.19	696
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-3665	97.73	65.08	975
HSA-MIR-376A-2-5P	96.43	68.06	715

Literature-anchored findings (GeneRIF, showing 11)

• identifed the human mu-protocadherin ortholog and examined its expression in the developing kidney (PMID:12167596)
• MUCDHL genes are biallelically expressed in multiple fetal and adult tissues both in humans and in mice (PMID:12589428)
• Our data consequently suggest that down-regulation of mu-protocadherin expression is a common event in colorectal carcinogenesis and might therefore play an important role in this pathologic process. (PMID:21315419)
• The MUPCDH genetic polymorphism rs3758650 was considered a genetic marker to predict symptomatic Gallstone disease subjects. (PMID:21839066)
• The transcription factor Cdx2 activates expression of the protocadherin Mucdhl, which interacts with beta-catenin and regulates activities of colon cancer cells. (PMID:22202456)
• Study found that brush border assembly is driven by the formation of Ca(2+)-dependent adhesion links between adjacent microvilli. Intermicrovillar links are composed of protocadherin-24 and mucin-like protocadherin, which target to microvillar tips and interact to form a trans-heterophilic complex. (PMID:24725409)
• It suggests that methylation status of MUPCDH promoter can be used as a novel epigenetic biomarker and a therapeutic target in ADPKD. (PMID:26463459)
• Expression of MUCDHL is negatively regulated by the activation of the beta-catenin signaling pathway in normal and cancer colorectal enterocytes. (PMID:27310872)
• Up-regulation of CDHR5 expression promotes malignant phenotype of pancreatic ductal adenocarcinoma. (PMID:33025744)
• The atypical cadherin MUCDHL antagonizes colon cancer formation and inhibits oncogenic signaling through multiple mechanisms. (PMID:33188295)
• Heterophilic and homophilic cadherin interactions in intestinal intermicrovillar links are species dependent. (PMID:34871294)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cdhr5	ENSMUSG00000025497
rattus_norvegicus	Cdhr5	ENSRNOG00000017762

Paralogs (33): CDH1 (ENSG00000039068), CDH10 (ENSG00000040731), CDH3 (ENSG00000062038), CDH19 (ENSG00000071991), CDHR2 (ENSG00000074276), CDH17 (ENSG00000079112), CDH7 (ENSG00000081138), PCDH11Y (ENSG00000099715), CDH20 (ENSG00000101542), PCDH11X (ENSG00000102290), CDH23 (ENSG00000107736), CDH9 (ENSG00000113100), CDH6 (ENSG00000113361), CDH26 (ENSG00000124215), CDHR3 (ENSG00000128536), CDH15 (ENSG00000129910), CDH24 (ENSG00000139880), CDH11 (ENSG00000140937), CDH13 (ENSG00000140945), CDH18 (ENSG00000145526), CDHR1 (ENSG00000148600), CDH22 (ENSG00000149654), CDH8 (ENSG00000150394), CDH12 (ENSG00000154162), PCDH1 (ENSG00000156453), DCHS1 (ENSG00000166341), PCDH7 (ENSG00000169851), CDH2 (ENSG00000170558), CDH4 (ENSG00000179242), CDH5 (ENSG00000179776), PCDH9 (ENSG00000184226), DCHS2 (ENSG00000197410), PCDH20 (ENSG00000280165)

Protein

Protein identifiers

Cadherin-related family member 5 — Q9HBB8 (reviewed: Q9HBB8)

Alternative names: Mu-protocadherin, Mucin and cadherin-like protein, Mucin-like protocadherin

All UniProt accessions (5): Q9HBB8, E9PKR2, E9PLX6, E9PMY2, E9PPW2

UniProt curated annotations — full annotation on UniProt →

Function. Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR2 on adjacent microvilli. Thereby, controls the packing of microvilli at the apical membrane of epithelial cells. Through its cytoplasmic domain, interacts with microvillus cytoplasmic proteins to form the intermicrovillar adhesion complex/IMAC. This complex plays a central role in microvilli and epithelial brush border differentiation.

Subunit / interactions. Part of the IMAC/intermicrovillar adhesion complex/intermicrovillar tip-link complex composed of ANKS4B, MYO7B, USH1C, CDHR2 and CDHR5. Interacts (via cytoplasmic domain) with USH1C and MYO7B; required for proper localization of CDHR5 to microvilli tips and its function in brush border differentiation.

Subcellular location. Apical cell membrane. Cell projection. Microvillus membrane.

Tissue specificity. Highest expression in kidney, liver, colon and small intestine. In kidney, expressed apically along brush border of proximal convoluted tubule but not in cortical collecting ducts. Isoform 1 is expressed primarily in adult small intestine and colon. Isoform 2 is highly expressed in fetal liver. Expressed in duodenum with higher expression in enterocytes along the villus axis and lower expression in crypts (at protein level).

Post-translational modifications. N- and O-glycosylated.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9HBB8-1	1, MUCDHL-FL, MLPCDH-L	yes
Q9HBB8-2	2, MLPCDH-S
Q9HBB8-4	3

RefSeq proteins (3): NP_001165439, NP_068743, NP_112554 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002126	Cadherin-like_dom	Domain
IPR015919	Cadherin-like_sf	Homologous_superfamily
IPR020894	Cadherin_CS	Conserved_site
IPR050174	Protocadherin/Cadherin-CA	Family

UniProt features (72 total): strand 14, glycosylation site 8, compositionally biased region 7, sequence conflict 6, region of interest 5, modified residue 5, sequence variant 5, repeat 4, domain 4, turn 3, topological domain 2, splice variant 2, mutagenesis site 2, helix 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6OAE	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HBB8-F1	69.84	0.44

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 (5): 770, 810, 817, 819, 821

Glycosylation sites (8): 44, 81, 140, 198, 297, 308, 405, 526

Mutagenesis-validated functional residues (2):

Position	Phenotype
109	loss of binding to cdhr2.
845	loss of interaction with ush1c.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 102 (showing top): GNF2_GSTM1, GNF2_HPN, TGACCTY_ERR1_Q2, CAGCTG_AP4_Q5, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GNF2_LCAT, TCCCCAC_MIR491, HNF4_01, GNF2_HPX, SANSOM_APC_TARGETS_DN, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_REGULATION_OF_MICROVILLUS_ORGANIZATION, SABATES_COLORECTAL_ADENOMA_DN

GO Biological Process (7): cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156), cell differentiation (GO:0030154), regulation of microvillus length (GO:0032532), intermicrovillar adhesion (GO:0090675), cell-cell adhesion (GO:0098609), brush border assembly (GO:1904970)

GO Molecular Function (4): calcium ion binding (GO:0005509), beta-catenin binding (GO:0008013), cell adhesion molecule binding (GO:0050839), protein binding (GO:0005515)

GO Cellular Component (10): plasma membrane (GO:0005886), microvillus (GO:0005902), clathrin-coated pit (GO:0005905), apical plasma membrane (GO:0016324), brush border membrane (GO:0031526), microvillus membrane (GO:0031528), synapse (GO:0045202), extracellular exosome (GO:0070062), membrane (GO:0016020), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	2
membrane	2
cell projection membrane	2
cellular anatomical structure	2
cellular process	1
cell-cell adhesion	1
cellular developmental process	1
regulation of microvillus organization	1
regulation of cell projection size	1
homotypic cell-cell adhesion	1
brush border assembly	1
cell adhesion	1
cellular component assembly	1
metal ion binding	1
binding	1
cell periphery	1
actin filament bundle	1
actin-based cell projection	1
endomembrane system	1
apical part of cell	1
plasma membrane region	1
brush border	1
apical plasma membrane	1
microvillus	1
cell junction	1
extracellular vesicle	1

Protein interactions and networks

STRING

1028 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDHR5	CDHR2	Q9BYE9	991
CDHR5	E9PNW1	E9PNW1	826
CDHR5	CDH17	Q12864	814
CDHR5	ANKS4B	Q8N8V4	802
CDHR5	CDH23	Q9H251	715
CDHR5	MYO7B	Q6PIF6	702
CDHR5	CTNNB1	P35222	602
CDHR5	PCDH11X	Q9BZA7	520
CDHR5	LRRC57	Q8N9N7	454
CDHR5	ESPN	B1AK53	451
CDHR5	WHRN	Q9P202	420
CDHR5	MYO1A	Q9UBC5	411
CDHR5	ARHGEF4	Q9NR80	409
CDHR5	SLC25A22	Q9H936	403
CDHR5	KHDRBS2	Q5VWX1	400
CDHR5	CDX2	Q99626	400

IntAct

6 interactions, top by confidence:

A	B	Type	Score
USH1C	CDHR5	psi-mi:“MI:0915”(physical association)	0.520
CDHR5	MYO7B	psi-mi:“MI:0915”(physical association)	0.400
CDHR5	LGALS1	psi-mi:“MI:0914”(association)	0.350
CDHR2	CDHR5	psi-mi:“MI:0403”(colocalization)	0.270

BioGRID (25): JMJD8 (Affinity Capture-MS), RETSAT (Affinity Capture-MS), MBLAC2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), LGALS1 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), LEMD3 (Affinity Capture-MS), EFNB1 (Affinity Capture-MS), SORL1 (Affinity Capture-MS), CDHR5 (Proximity Label-MS), CDHR5 (Affinity Capture-RNA), CDHR5 (Affinity Capture-RNA), LEMD3 (Affinity Capture-MS), XPO7 (Affinity Capture-MS)

ESM2 similar proteins: A6NDA9, D3YX43, D5K8A9, O95256, P0CI71, P22272, P22273, P22934, P25118, P27930, P27931, P40967, P42703, P43121, P43303, Q00560, Q06154, Q149L7, Q29612, Q3SXY7, Q5RFR6, Q5SZV5, Q5VV43, Q60696, Q6PFC5, Q6UY09, Q7Z442, Q80ZD7, Q80ZD8, Q8IXH8, Q8IZA0, Q8K099, Q8K135, Q8MJS1, Q8N0Z9, Q8R2Y2, Q8R526, Q8VHF2, Q923P0, Q99650

Diamond homologs: Q5DRD6, Q86SJ6, Q8VHF2, Q9HBB8, Q9JIK1, Q9Y5F0, P34616, Q5DRB3, Q5DRB8, Q9Y5G6, Q9Y5H1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	190
Likely benign	17
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2702 predictions. Top by Δscore:

Variant	Effect	Δscore
11:617941:T:TA	donor_gain	1.0000
11:618119:C:CT	acceptor_gain	1.0000
11:620062:CTCA:C	donor_loss	1.0000
11:620163:TCCTG:T	acceptor_loss	1.0000
11:620164:CCTG:C	acceptor_loss	1.0000
11:620165:C:CC	acceptor_gain	1.0000
11:620294:A:AC	donor_gain	1.0000
11:620294:AC:A	donor_gain	1.0000
11:620294:ACC:A	donor_gain	1.0000
11:620294:ACCC:A	donor_gain	1.0000
11:620295:C:CC	donor_gain	1.0000
11:620295:CC:C	donor_gain	1.0000
11:620295:CCC:C	donor_gain	1.0000
11:620295:CCCC:C	donor_gain	1.0000
11:620295:CCCCT:C	donor_gain	1.0000
11:620367:C:CT	acceptor_gain	1.0000
11:620369:C:CT	acceptor_gain	1.0000
11:620390:C:CT	acceptor_gain	1.0000
11:620391:A:T	acceptor_gain	1.0000
11:620395:A:AC	acceptor_gain	1.0000
11:620399:C:CT	acceptor_gain	1.0000
11:620400:G:T	acceptor_gain	1.0000
11:621112:A:AC	donor_gain	1.0000
11:621113:C:CC	donor_gain	1.0000
11:621113:CTGAG:C	donor_gain	1.0000
11:621117:G:C	donor_gain	1.0000
11:621133:AG:A	donor_gain	1.0000
11:621133:AGC:A	donor_gain	1.0000
11:621134:G:C	donor_gain	1.0000
11:621560:A:AC	donor_gain	1.0000

AlphaMissense

5411 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:624232:C:G	C98S	0.998
11:624233:A:T	C98S	0.998
11:621158:G:C	F237L	0.997
11:621158:G:T	F237L	0.997
11:621159:A:C	F237C	0.997
11:621160:A:G	F237L	0.997
11:624606:A:C	F71C	0.997
11:624606:A:G	F71S	0.997
11:621159:A:G	F237S	0.996
11:621846:A:C	F124C	0.996
11:624605:A:C	F71L	0.996
11:624605:A:T	F71L	0.996
11:624607:A:G	F71L	0.996
11:621846:A:G	F124S	0.995
11:624231:A:C	C98W	0.995
11:624233:A:G	C98R	0.995
11:617510:A:C	F793L	0.994
11:617510:A:T	F793L	0.994
11:617512:A:G	F793L	0.994
11:619541:A:G	F409S	0.994
11:621126:C:G	C248S	0.994
11:621127:A:G	C248R	0.994
11:621127:A:T	C248S	0.994
11:624232:C:T	C98Y	0.994
11:624585:A:G	L78P	0.994
11:624696:T:A	E41V	0.994
11:619799:A:C	F354C	0.993
11:620349:G:T	A276D	0.993
11:621208:C:G	A221P	0.993
11:621845:G:C	F124L	0.993

dbSNP variants (sampled 300 via entrez): RS1000029513 (11:624305 A>G), RS1000085475 (11:619677 C>G,T), RS1000228694 (11:619696 C>T), RS1000283316 (11:623245 G>A,T), RS1000399627 (11:623426 C>T), RS1000541351 (11:626871 A>C), RS1001644615 (11:623208 C>G), RS1001796230 (11:623030 C>T), RS1002033373 (11:622176 G>A), RS1002193325 (11:617968 A>G), RS1002273886 (11:619924 G>A), RS1002491176 (11:616980 T>A), RS1002868924 (11:616735 T>C), RS1002907586 (11:618261 G>A,C), RS1002928989 (11:618475 A>G,T)

Disease associations

OMIM: gene MIM:606839 | 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

2 associations (top):

Study	Trait	p-value
GCST003155_11	Systemic lupus erythematosus	9.000000e-10
GCST009131_16	Systemic sclerosis	2.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, affects cotreatment	1
bleomycetin	decreases expression	1
2-palmitoylglycerol	increases expression	1
bisphenol S	decreases methylation	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Triclosan	decreases expression	1
Urethane	increases expression	1
Valproic Acid	decreases expression, increases methylation	1
Aflatoxin B1	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
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