DENND5B

Summary

DENND5B (DENN domain containing 5B, HGNC:28338) is a protein-coding gene on chromosome 12p11.21, encoding DENN domain-containing protein 5B (Q6ZUT9). Guanine nucleotide exchange factor (GEF) which may activate RAB39A and/or RAB39B.

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in positive regulation of triglyceride transport. Predicted to be located in cytosol.

Source: NCBI Gene 160518 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 8
• Clinical variants (ClinVar): 213 total
• MANE Select transcript: NM_144973

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28338
Approved symbol	DENND5B
Name	DENN domain containing 5B
Location	12p11.21
Locus type	gene with protein product
Status	Approved
Aliases	MGC24039
Ensembl gene	ENSG00000170456
Ensembl biotype	protein_coding
OMIM	617279
Entrez	160518

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 13 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000354285, ENST00000389082, ENST00000536562, ENST00000537061, ENST00000544698, ENST00000545147, ENST00000546299, ENST00000897818, ENST00000897819, ENST00000897820, ENST00000897821, ENST00000948236, ENST00000948237, ENST00000948238, ENST00000948239, ENST00000948240

RefSeq mRNA: 6 — MANE Select: NM_144973 NM_001308339, NM_001366890, NM_001366891, NM_001366892, NM_001366893, NM_144973

CCDS: CCDS44857, CCDS76542, CCDS91679

Canonical transcript exons

ENST00000389082 — 21 exons

Exon	Start	End
ENSE00001098199	31415367	31415448
ENSE00001098200	31426293	31426424
ENSE00001159165	31389324	31389498
ENSE00001159172	31392267	31392393
ENSE00001159177	31392614	31392696
ENSE00001159186	31398175	31398362
ENSE00001159192	31399654	31399772
ENSE00001159199	31402498	31402643
ENSE00001186179	31409263	31409384
ENSE00001186182	31413436	31413564
ENSE00001186192	31433155	31433248
ENSE00001186195	31442775	31442925
ENSE00001270461	31460194	31460381
ENSE00001270470	31479589	31480255
ENSE00001270533	31423597	31423675
ENSE00001270616	31451940	31452476
ENSE00001270646	31382226	31387786
ENSE00001340152	31447538	31447769
ENSE00001674731	31424535	31424687
ENSE00002246411	31590706	31591136
ENSE00003558715	31495810	31495919

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 94.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.3995 / max 166.1112, expressed in 1668 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130361	5.3994	1486
130365	4.5380	1310
130367	0.7176	400
130363	0.4230	243
130364	0.3987	218
130366	0.3954	190
130362	0.2602	103
130359	0.1402	60
130360	0.0987	43
130356	0.0178	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	94.48	gold quality
pons	UBERON:0000988	92.90	gold quality
endothelial cell	CL:0000115	91.78	silver quality
superior vestibular nucleus	UBERON:0007227	91.36	gold quality
substantia nigra pars compacta	UBERON:0001965	91.29	gold quality
ventricular zone	UBERON:0003053	90.90	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.32	gold quality
cortical plate	UBERON:0005343	89.97	gold quality
substantia nigra pars reticulata	UBERON:0001966	89.22	gold quality
ganglionic eminence	UBERON:0004023	89.09	gold quality
jejunal mucosa	UBERON:0000399	89.02	gold quality
cerebellar vermis	UBERON:0004720	89.01	gold quality
secondary oocyte	CL:0000655	88.66	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.48	gold quality
adrenal tissue	UBERON:0018303	88.38	gold quality
lateral globus pallidus	UBERON:0002476	88.33	gold quality
heart right ventricle	UBERON:0002080	88.00	gold quality
middle temporal gyrus	UBERON:0002771	87.75	gold quality
ventral tegmental area	UBERON:0002691	87.70	gold quality
germinal epithelium of ovary	UBERON:0001304	86.54	gold quality
oocyte	CL:0000023	86.17	gold quality
occipital lobe	UBERON:0002021	85.47	gold quality
primary visual cortex	UBERON:0002436	85.45	gold quality
medulla oblongata	UBERON:0001896	85.42	gold quality
parietal lobe	UBERON:0001872	85.27	gold quality
jejunum	UBERON:0002115	84.97	gold quality
globus pallidus	UBERON:0001875	84.87	gold quality
dorsal plus ventral thalamus	UBERON:0001897	84.84	gold quality
medial globus pallidus	UBERON:0002477	84.45	gold quality
superior frontal gyrus	UBERON:0002661	84.22	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

243 targeting DENND5B, 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-3646	100.00	73.56	5283
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-520D-5P	99.98	73.34	4883

Literature-anchored findings (GeneRIF, showing 1)

• De novo variants in DENND5B cause a neurodevelopmental disorder. (PMID:38387458)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dennd5b	ENSDARG00000003789
mus_musculus	Dennd5b	ENSMUSG00000030313
rattus_norvegicus	Dennd5b	ENSRNOG00000049378

Paralogs (10): PKD1 (ENSG00000008710), PKD2L2 (ENSG00000078795), PKD2L1 (ENSG00000107593), PKD2 (ENSG00000118762), PKDREJ (ENSG00000130943), PKD1L1 (ENSG00000158683), PKD1L2 (ENSG00000166473), LOXHD1 (ENSG00000167210), DENND5A (ENSG00000184014), PKD1L3 (ENSG00000277481)

Protein

Protein identifiers

DENN domain-containing protein 5B — Q6ZUT9 (reviewed: Q6ZUT9)

Alternative names: Rab6IP1-like protein

All UniProt accessions (4): Q6ZUT9, F5H4A0, G3V1S3, H0YGE5

UniProt curated annotations — full annotation on UniProt →

Function. Guanine nucleotide exchange factor (GEF) which may activate RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.

Subcellular location. Membrane.

Similarity. Belongs to the RAB6IP1 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6ZUT9-1	1	yes
Q6ZUT9-2	2
Q6ZUT9-3	3
Q6ZUT9-4	4

RefSeq proteins (6): NP_001295268, NP_001353819, NP_001353820, NP_001353821, NP_001353822, NP_659410* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001024	PLAT/LH2_dom	Domain
IPR001194	cDENN_dom	Domain
IPR004012	Run_dom	Domain
IPR005112	dDENN_dom	Domain
IPR005113	uDENN_dom	Domain
IPR036392	PLAT/LH2_dom_sf	Homologous_superfamily
IPR037213	Run_dom_sf	Homologous_superfamily
IPR037516	Tripartite_DENN	Domain
IPR043153	DENN_C	Homologous_superfamily
IPR047277	PLAT_RAB6IP1	Domain
IPR047278	DEN5A/B	Family
IPR047292	RUN2_DENND5B	Domain
IPR047293	RUN1_DENND5B	Domain

Pfam: PF01477, PF02141, PF02759, PF03455, PF03456

UniProt features (31 total): modified residue 8, splice variant 7, domain 6, sequence conflict 5, sequence variant 2, initiator methionine 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZUT9-F1	77.12	0.39

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 (8): 49, 178, 822, 1062, 1068, 1076, 1079, 2

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8876198	RAB GEFs exchange GTP for GDP on RABs

MSigDB gene sets: 138 (showing top): GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_YELLOW_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, GOBP_POSITIVE_REGULATION_OF_LIPID_TRANSPORT, chr12p11, GOBP_POSITIVE_REGULATION_OF_TRANSPORT, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_UP, GOBP_REGULATION_OF_TRANSPORT, GOBP_LIPID_LOCALIZATION, GOMF_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C

GO Biological Process (1): positive regulation of triglyceride transport (GO:1905885)

GO Molecular Function (3): guanyl-nucleotide exchange factor activity (GO:0005085), small GTPase binding (GO:0031267), protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Rab regulation of trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
triglyceride transport	1
positive regulation of acylglycerol transport	1
regulation of triglyceride transport	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
GTPase binding	1
binding	1
cytoplasm	1

Protein interactions and networks

STRING

703 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DENND5B	SMAP1	Q8IYB5	521
DENND5B	ITFG1	Q8TB96	471
DENND5B	VOPP1	Q96AW1	464
DENND5B	ZMAT4	Q9H898	456
DENND5B	C5orf63	A6NC05	454
DENND5B	SLC24A3	Q9HC58	443
DENND5B	RAB28	P51157	435
DENND5B	WIPF2	Q8TF74	425
DENND5B	DENND4B	O75064	414
DENND5B	DENND1C	Q8IV53	412
DENND5B	ZMYM4	Q5VZL5	391
DENND5B	ST8SIA3	O43173	386
DENND5B	OR8B12	Q8NGG6	379
DENND5B	SMIM19	Q96E16	377
DENND5B	IGF2R	P11717	374

IntAct

4 interactions, top by confidence:

A	B	Type	Score
RNLS	STATH	psi-mi:“MI:0914”(association)	0.350
DENND5A	BEND3	psi-mi:“MI:0914”(association)	0.350
DENND5B		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (25): DENND5B (Affinity Capture-RNA), DENND5B (Affinity Capture-RNA), DENND5B (Synthetic Lethality), DENND5B (Affinity Capture-MS), DENND5B (Proximity Label-MS), DENND5B (Proximity Label-MS), DENND5B (Proximity Label-MS), DENND5B (Negative Genetic), DENND5B (Proximity Label-MS), DENND5B (Proximity Label-MS), DENND5B (Proximity Label-MS), DENND5B (Proximity Label-MS), DENND5B (Proximity Label-MS), DENND5B (Proximity Label-MS), DENND5B (Affinity Capture-MS)

ESM2 similar proteins: A0M8S0, A0M8T1, A0M8U1, A3KN28, A4D7R9, A6QL63, A9JRA0, B5DEN9, P13666, Q00PJ0, Q07DV5, Q07DW9, Q07DX8, Q07DY8, Q07E08, Q07E45, Q09YH4, Q09YI5, Q09YJ7, Q09YK8, Q09YN2, Q108U3, Q1RLU8, Q2IBA8, Q2IBD0, Q2IBE0, Q2IBE8, Q2PG42, Q2QL86, Q2QLA6, Q2QLB7, Q2QLD7, Q2QLE8, Q2QLG2, Q3T178, Q5R8N4, Q68FW3, Q6ZUT9, Q7TQ48, Q7Z3J2

Diamond homologs: A2RSQ0, C8YR32, G3V7Q0, Q5FVJ0, Q6IQ26, Q6NXD8, Q6P3S1, Q6PAL8, Q6ZUT9, Q8BIJ7, Q8C4S8, Q8CFK6, Q8IV53, Q8IVV2, Q8RXA7, Q8WXG6, Q96T51, Q9TXP3, B8UU59, E7FKV8, O08852, O16025, P09917, P12527, P48999, P51399, P98161, Q09624, Q2EG98, Q7TN88, Q7Z442, Q7Z443, Q8R526, Q8TDX9, Q9NTG1, Q9Z0T6, Q3U1T9, Q9ULE3, G2WWH6, I1RQE2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	169
Likely benign	23
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3866 predictions. Top by Δscore:

Variant	Effect	Δscore
12:31387616:C:CA	donor_gain	1.0000
12:31389318:TTGTA:T	donor_loss	1.0000
12:31389319:TGTA:T	donor_loss	1.0000
12:31389320:GTACC:G	donor_loss	1.0000
12:31389321:TA:T	donor_loss	1.0000
12:31389323:C:G	donor_loss	1.0000
12:31389360:T:TA	donor_gain	1.0000
12:31389496:TCTC:T	acceptor_loss	1.0000
12:31389497:CT:C	acceptor_gain	1.0000
12:31389498:TCT:T	acceptor_loss	1.0000
12:31389499:C:CC	acceptor_gain	1.0000
12:31389499:CTGAG:C	acceptor_loss	1.0000
12:31389500:T:C	acceptor_loss	1.0000
12:31392697:C:CC	acceptor_gain	1.0000
12:31398173:A:AC	donor_gain	1.0000
12:31398174:C:CC	donor_gain	1.0000
12:31398185:T:TA	donor_gain	1.0000
12:31398207:AATCT:A	donor_gain	1.0000
12:31398362:TC:T	acceptor_loss	1.0000
12:31398364:T:A	acceptor_loss	1.0000
12:31399771:CA:C	acceptor_gain	1.0000
12:31399773:C:CC	acceptor_gain	1.0000
12:31402493:CCTA:C	donor_loss	1.0000
12:31402495:TAC:T	donor_loss	1.0000
12:31402496:ACC:A	donor_loss	1.0000
12:31402497:C:CG	donor_loss	1.0000
12:31402639:AATCA:A	acceptor_gain	1.0000
12:31402640:ATCA:A	acceptor_gain	1.0000
12:31402641:TCA:T	acceptor_gain	1.0000
12:31402642:CA:C	acceptor_gain	1.0000

AlphaMissense

8422 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:31398346:A:G	W1029R	1.000
12:31398346:A:T	W1029R	1.000
12:31398360:A:G	F1024S	1.000
12:31399690:A:T	V1011D	1.000
12:31409319:A:G	L916P	1.000
12:31413469:A:G	L883P	1.000
12:31413496:A:G	L874P	1.000
12:31413502:A:G	L872P	1.000
12:31413512:A:G	W869R	1.000
12:31413512:A:T	W869R	1.000
12:31423660:A:G	W803R	1.000
12:31423660:A:T	W803R	1.000
12:31424561:A:G	W789R	1.000
12:31424561:A:T	W789R	1.000
12:31424572:A:G	L785P	1.000
12:31424575:A:G	L784P	1.000
12:31424584:A:G	L781P	1.000
12:31424674:A:G	L751S	1.000
12:31426326:G:C	F735L	1.000
12:31426326:G:T	F735L	1.000
12:31426328:A:G	F735L	1.000
12:31442874:G:T	P638Q	1.000
12:31447759:A:G	L547P	1.000
12:31460243:A:G	L348P	1.000
12:31460247:C:G	G347R	1.000
12:31460261:A:T	V342D	1.000
12:31460267:G:T	A340D	1.000
12:31460273:A:G	L338P	1.000
12:31460275:A:C	F337L	1.000
12:31460275:A:T	F337L	1.000

dbSNP variants (sampled 300 via entrez): RS1000013498 (12:31395303 C>T), RS1000018207 (12:31523025 G>A), RS1000021250 (12:31385980 G>A), RS1000029459 (12:31553704 C>A,T), RS1000038128 (12:31514514 G>A), RS1000061988 (12:31396545 A>C), RS1000067847 (12:31431119 T>C,G), RS1000113882 (12:31402393 T>C), RS1000127919 (12:31393051 C>T), RS1000136563 (12:31485932 G>A), RS1000144004 (12:31422093 G>A,C), RS1000162428 (12:31505222 T>C), RS1000171100 (12:31547642 C>G,T), RS1000177000 (12:31476967 G>A), RS1000177199 (12:31392767 T>C)

Disease associations

OMIM: gene MIM:617279 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal dominant
hypoplastic left heart syndrome	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Limited	AD

Mondo (2): hypoplastic left heart syndrome (MONDO:0004933), neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST005362_6	Attention deficit hyperactivity disorder	5.000000e-07
GCST007552_38	Colorectal cancer	5.000000e-08
GCST008595_115	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	8.000000e-09
GCST010002_214	Refractive error	8.000000e-10
GCST010118_129	Type 2 diabetes	4.000000e-32
GCST010796_5313	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_5314	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_5315	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0004327	electrocardiography

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D018636	Hypoplastic Left Heart Syndrome	C14.240.400.625; C14.280.400.625; C16.131.240.400.625
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation, increases mutagenesis	3
Valproic Acid	decreases expression, increases expression	3
sodium arsenite	increases expression, affects cotreatment, decreases expression, increases abundance	2
Tretinoin	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
trichostatin A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
avobenzone	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
pentabromodiphenyl ether	increases expression	1
ICG 001	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Atrazine	decreases expression	1
Caffeine	decreases phosphorylation	1
Catechin	decreases expression, affects cotreatment	1
Cisplatin	affects cotreatment, decreases expression	1
Manganese	increases abundance, affects cotreatment, decreases expression	1
Potassium Dichromate	decreases expression	1
Rotenone	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A8MP	MRIi018-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02781922	PHASE3	RECRUITING	Cardiac Stem/Progenitor Cell Infusion in Univentricular Physiology (APOLLON Trial)
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT00507819	PHASE2	COMPLETED	Sildenafil After the Fontan Operation
NCT01292551	PHASE2	COMPLETED	Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology.
NCT01829750	PHASE2	COMPLETED	Cardiac Progenitor Cell Infusion to Treat Univentricular Heart Disease (PERSEUS)
NCT02080637	PHASE2	COMPLETED	Ambrisentan in Single Ventricle
NCT03779711	PHASE2	ACTIVE_NOT_RECRUITING	Intramyocardial Injection of Autologous Umbilical Cord Blood Derived Mononuclear Cells During Surgical Repair of Hypoplastic Left Heart Syndrome
NCT04925024	PHASE2	ACTIVE_NOT_RECRUITING	Evaluation of Lomecel-B™ Injection in Patients With Hypoplastic Left Heart Syndrome (HLHS): A Phase IIb Clinical Trial.
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT01273857	PHASE1	COMPLETED	Transcoronary Infusion of Cardiac Progenitor Cells in Patients With Single Ventricle Physiology
NCT01445041	PHASE1	TERMINATED	Safety and Feasibility Study of Umbilical Cord Blood Cells for Infants With Hypoplastic Left Heart Syndrome
NCT01883076	PHASE1	COMPLETED	Safety Study of Autologous Umbilical Cord Blood Cells for Treatment of Hypoplastic Left Heart Syndrome
NCT02398604	PHASE1	TERMINATED	Allogeneic hMSC Injection in Patients With Hypoplastic Left Heart Syndrome
NCT03406884	PHASE1	COMPLETED	The CHILD Trial: Hypoplastic Left Heart Syndrome Study.
NCT03431480	PHASE1	COMPLETED	Safety of Autologous Cord Blood Cells in HLHS Patients During Norwood Heart Surgery
NCT04181255	PHASE1	TERMINATED	Cold Heart Study: A Randomized Pilot Trial of Surfactant Therapy
NCT06461676	PHASE1	NOT_YET_RECRUITING	Study of Intramyocardial Injection of Ventrix Bio Extracellular Matrix (VentriGel) to Assess the Safety and Feasibility in Pediatric Patients with Hypoplastic Left Heart Syndrome (HLHS)
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT00513240	PHASE1/PHASE2	COMPLETED	Erythropoetin Neuroprotection for Neonatal Cardiac Surgery
NCT03079401	PHASE1/PHASE2	UNKNOWN	Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle
NCT03136835	PHASE1/PHASE2	COMPLETED	Maternal Hyperoxygenation in Congenital Heart Disease
NCT03525418	PHASE1/PHASE2	UNKNOWN	Lomecel-B Delivered During Stage II Surgery for Hypoplastic Left Heart Syndrome (ELPIS)
NCT00156455	Not specified	WITHDRAWN	Sleep Disordered Breathing in Children With Single Ventricle Physiology
NCT00308217	Not specified	COMPLETED	Single Ventricle Outcome
NCT00464100	Not specified	COMPLETED	Near-infrared Spectroscopy (NIRS) Neurodevelopmental Outcomes
NCT00571233	Not specified	COMPLETED	Biomarker Study for Heart Failure in Children With Single Ventricle Physiology
NCT00734643	Not specified	COMPLETED	Family Adaptation Study Following the Diagnosis of Hypoplastic Left Heart Syndrome in a Newborn
NCT00860327	Not specified	TERMINATED	Examining Developmental Changes in Heart Contractions of Children With Congenital Heart Defects
NCT00974025	Not specified	COMPLETED	Impact of Vitamin C on Endothelial Function and Exercise Capacity in Fontan-Palliated Patients
NCT01032876	Not specified	COMPLETED	Cerebral Perfusion During Neonatal Cardiac Surgery
NCT01107990	Not specified	TERMINATED	Global and Regional Myocardial Strain and Power Output In Patients With Single Ventricles Using Novel MRI Techniques