AK8

Summary

AK8 (adenylate kinase 8, HGNC:26526) is a protein-coding gene on chromosome 9q34.13, encoding Adenylate kinase 8 (Q96MA6). Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates.

Enables AMP binding activity and nucleobase-containing compound kinase activity. Predicted to be involved in nucleoside monophosphate phosphorylation. Predicted to act upstream of or within ventricular system development. Located in 9+2 motile cilium.

Source: NCBI Gene 158067 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 89 total — 3 pathogenic
• MANE Select transcript: NM_152572

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26526
Approved symbol	AK8
Name	adenylate kinase 8
Location	9q34.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32704
Ensembl gene	ENSG00000165695
Ensembl biotype	protein_coding
OMIM	615365
Entrez	158067

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000298545, ENST00000467161, ENST00000476719, ENST00000477396, ENST00000482422, ENST00000885291, ENST00000885292, ENST00000885293, ENST00000885294, ENST00000930666, ENST00000942971

RefSeq mRNA: 7 — MANE Select: NM_152572 NM_001317958, NM_001317959, NM_001371771, NM_001371772, NM_001371773, NM_001371774, NM_152572

CCDS: CCDS6954

Canonical transcript exons

ENST00000298545 — 13 exons

Exon	Start	End
ENSE00003459899	132878172	132878284
ENSE00003465305	132828645	132828726
ENSE00003465403	132823205	132823336
ENSE00003491314	132814638	132814727
ENSE00003535039	132866904	132866953
ENSE00003574512	132725578	132725925
ENSE00003578566	132875115	132875199
ENSE00003585649	132826854	132827054
ENSE00003588100	132792634	132792775
ENSE00003621094	132727454	132727534
ENSE00003638023	132828013	132828084
ENSE00003638073	132863665	132863778
ENSE00003684101	132854857	132854925

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 94.61.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5739 / max 91.1192, expressed in 740 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102910	1.4201	680
102911	0.1538	62

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.61	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.37	gold quality
kidney epithelium	UBERON:0004819	94.00	gold quality
bronchial epithelial cell	CL:0002328	93.84	gold quality
left ventricle myocardium	UBERON:0006566	93.34	gold quality
bronchus	UBERON:0002185	93.15	gold quality
left testis	UBERON:0004533	88.06	gold quality
myocardium	UBERON:0002349	88.04	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.78	gold quality
upper arm skin	UBERON:0004263	87.52	gold quality
right testis	UBERON:0004534	87.50	gold quality
vastus lateralis	UBERON:0001379	87.14	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.95	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	86.70	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.38	gold quality
testis	UBERON:0000473	86.05	gold quality
quadriceps femoris	UBERON:0001377	85.89	gold quality
biceps brachii	UBERON:0001507	85.81	gold quality
sperm	CL:0000019	83.23	silver quality
epithelial cell of pancreas	CL:0000083	82.96	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	82.94	gold quality
corpus epididymis	UBERON:0004359	82.86	gold quality
caput epididymis	UBERON:0004358	81.86	gold quality
mucosa of paranasal sinus	UBERON:0005030	81.33	silver quality
parotid gland	UBERON:0001831	81.31	gold quality
oviduct epithelium	UBERON:0004804	80.87	gold quality
epithelium of nasopharynx	UBERON:0001951	80.06	silver quality
fallopian tube	UBERON:0003889	79.91	gold quality
lateral nuclear group of thalamus	UBERON:0002736	79.87	gold quality
subthalamic nucleus	UBERON:0001906	79.82	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

5 targeting AK8, 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-3119	99.92	71.34	2390
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-328-5P	99.08	64.65	1000
HSA-MIR-5586-5P	96.29	68.02	685

Literature-anchored findings (GeneRIF, showing 1)

• Both AK7 and full-length AK8 showed highest affinity for AMP with ATP as the phosphate donor, and proved to be more efficient in AMP phosphorylation as compared with the major cytosolic isoform AK1 (PMID:21080915)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ak8	ENSMUSG00000026807
rattus_norvegicus	Ak8	ENSRNOG00000012761
drosophila_melanogaster	CG9541	FBGN0032083
caenorhabditis_elegans		WBGENE00008746

Paralogs (9): AK2 (ENSG00000004455), AK1 (ENSG00000106992), AK7 (ENSG00000140057), AK3 (ENSG00000147853), AK5 (ENSG00000154027), AK9 (ENSG00000155085), CMPK1 (ENSG00000162368), AK4 (ENSG00000162433), AK4P3 (ENSG00000233381)

Protein

Protein identifiers

Adenylate kinase 8 — Q96MA6 (reviewed: Q96MA6)

Alternative names: ATP-AMP transphosphorylase 8

All UniProt accessions (1): Q96MA6

UniProt curated annotations — full annotation on UniProt →

Function. Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity.

Subunit / interactions. Interacts with CFAP45 and CFAP52; CFAP45 and AK8 dimerization may create a cavity at the interface of the dimer that can accommodate AMP.

Subcellular location. Cytoplasm. Cytosol. Cytoskeleton. Cilium axoneme.

Tissue specificity. Expressed in respiratory cells (at protein level).

Similarity. Belongs to the adenylate kinase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96MA6-1	1	yes
Q96MA6-2	2

RefSeq proteins (7): NP_001304887, NP_001304888, NP_001358700, NP_001358701, NP_001358702, NP_001358703, NP_689785* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000850	Adenylat/UMP-CMP_kin	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036193	ADK_active_lid_dom_sf	Homologous_superfamily

Pfam: PF00406

Enzyme classification (BRENDA):

• EC 2.7.4.3 — adenylate kinase (BRENDA: 73 organisms, 259 substrates, 134 inhibitors, 192 Km, 47 kcat entries)

Substrate kinetics (BRENDA)

9 substrates with measured Km, best-characterized 9. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
AMP	0.0014–1.9	59
ATP	0.0001–7	58
ADP	0.003–16.8	27
2 ADP	0.006–0.15	5
DAMP	0.507–2	2
2’-DAMP	0.85	1
7-DEAZAADENOSINE 5’-MONOPHOSPHATE	0.73	1
ADP3-	0.03	1
CMP	0.0002	1

Catalyzed reactions (Rhea), 3 shown:

• AMP + ATP = 2 ADP (RHEA:12973)
• a ribonucleoside 5’-diphosphate + ATP = a ribonucleoside 5’-triphosphate + ADP (RHEA:18113)
• a 2’-deoxyribonucleoside 5’-diphosphate + ATP = a 2’-deoxyribonucleoside 5’-triphosphate + ADP (RHEA:44640)

UniProt features (19 total): binding site 9, region of interest 6, sequence variant 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MA6-F1	87.47	0.53

Functional residue map

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

Ligand- & substrate-binding residues (9): 203; 278–283; 325–327; 354–357; 361; 392; 67–72; 140–143; 147

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-499943	Interconversion of nucleotide di- and triphosphates
R-HSA-1430728	Metabolism
R-HSA-15869	Metabolism of nucleotides

MSigDB gene sets: 99 (showing top): GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, MEF2_02, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_VENTRICULAR_SYSTEM_DEVELOPMENT, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, NKX61_01, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_HEAD_DEVELOPMENT, RYTTCCTG_ETS2_B, GOBP_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS, CDPCR3HD_01, PITX2_Q2, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, MEF2_03

GO Biological Process (5): ventricular system development (GO:0021591), nucleobase-containing compound metabolic process (GO:0006139), nucleotide metabolic process (GO:0009117), nucleoside monophosphate metabolic process (GO:0009123), nucleoside monophosphate phosphorylation (GO:0046940)

GO Molecular Function (11): AMP kinase activity (GO:0004017), nucleoside diphosphate kinase activity (GO:0004550), ATP binding (GO:0005524), AMP binding (GO:0016208), dCMP kinase activity (GO:0036431), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), phosphotransferase activity, phosphate group as acceptor (GO:0016776), nucleobase-containing compound kinase activity (GO:0019205)

GO Cellular Component (7): cytoplasm (GO:0005737), cytosol (GO:0005829), axoneme (GO:0005930), sperm flagellum (GO:0036126), 9+2 motile cilium (GO:0097729), cytoskeleton (GO:0005856), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of nucleotides	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
nucleoside phosphate metabolic process	2
adenyl ribonucleotide binding	2
transferase activity, transferring phosphorus-containing groups	2
brain development	1
system development	1
primary metabolic process	1
nucleoside monophosphate metabolic process	1
nucleotide biosynthetic process	1
nucleoside monophosphate kinase activity	1
phosphotransferase activity, phosphate group as acceptor	1
nucleobase-containing compound kinase activity	1
purine ribonucleoside triphosphate binding	1
anion binding	1
cation binding	1
deoxynucleoside phosphate kinase activity, ATP as phosphate donor	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
kinase activity	1
intracellular anatomical structure	1
cytoplasm	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
9+2 motile cilium	1
radial spoke	1
motile cilium	1
inner dynein arm	1
outer dynein arm	1
axonemal central pair	1
axonemal doublet microtubule	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

2761 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AK8	AK7	Q96M32	812
AK8	AK9	Q5TCS8	566
AK8	CATIP	Q7Z7H3	526
AK8	TPGS1	Q6ZTW0	504
AK8	GUCY1B1	Q02153	488
AK8	SNAPC4	Q5SXM2	476
AK8	SURF6	O75683	475
AK8	AK6	Q9Y3D8	470
AK8	TMCO5A	Q8N6Q1	460
AK8	SPACA9	Q96E40	450
AK8	TEX55	Q96M34	446
AK8	NME5	P56597	444
AK8	CAMSAP1	Q5T5Y3	443
AK8	FBXL13	Q8NEE6	442
AK8	PMPCA	Q10713	438

IntAct

82 interactions, top by confidence:

A	B	Type	Score
AK8	MAP3K7CL	psi-mi:“MI:0915”(physical association)	0.720
MAP3K7CL	AK8	psi-mi:“MI:0915”(physical association)	0.720
AK8	MCM7	psi-mi:“MI:0915”(physical association)	0.670
MCM7	AK8	psi-mi:“MI:0915”(physical association)	0.670
CCDC102B	AK8	psi-mi:“MI:0915”(physical association)	0.560
AK8	RBM39	psi-mi:“MI:0915”(physical association)	0.560
HAUS1	AK8	psi-mi:“MI:0915”(physical association)	0.560
ZMAT2	AK8	psi-mi:“MI:0915”(physical association)	0.560
AK8	ALKBH3	psi-mi:“MI:0915”(physical association)	0.560
UBE2Z	AK8	psi-mi:“MI:0915”(physical association)	0.560
MID1IP1	AK8	psi-mi:“MI:0915”(physical association)	0.560
AK8	CCDC102B	psi-mi:“MI:0915”(physical association)	0.560
AK8	HAUS1	psi-mi:“MI:0915”(physical association)	0.560
ALKBH3	AK8	psi-mi:“MI:0915”(physical association)	0.560
AK8	UBE2Z	psi-mi:“MI:0915”(physical association)	0.560
AK8	MID1IP1	psi-mi:“MI:0915”(physical association)	0.560
RBM39	AK8	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (19): AK8 (Two-hybrid), AK8 (Two-hybrid), AK8 (Two-hybrid), AK8 (Two-hybrid), AK8 (Two-hybrid), AK8 (Two-hybrid), AK8 (Two-hybrid), AK8 (Two-hybrid), ALKBH3 (Two-hybrid), AK8 (Biochemical Activity), AK8 (Two-hybrid), AK8 (Two-hybrid), AK8 (Two-hybrid), AK8 (Two-hybrid), AK8 (Two-hybrid)

ESM2 similar proteins: A0A4X1T4U3, A4IFD0, O00329, O14936, O35904, O61069, O65583, O70589, P07953, P16118, P25114, P49872, P70266, Q13057, Q16875, Q16877, Q24210, Q28901, Q298L5, Q2UM43, Q32M07, Q4R3W4, Q4R8B6, Q4V8A1, Q502L7, Q5B5L3, Q5M7G4, Q5R9C1, Q623S8, Q62915, Q68FP8, Q6DGQ8, Q6DTY7, Q6P618, Q80UN9, Q8IMX7, Q8MIR4, Q91309, Q91348, Q91YL3

Diamond homologs: A0A4X1T4U3, A0K9X1, A0PXW7, A0R8K1, A1AVD5, A1TQ96, A1V117, A1VNK2, A1W895, A1WSH6, A2S516, A3M3G1, A3MN48, A3N6K4, A3NS87, A4J592, A4SVI8, A4XLR0, A7GK41, A7Z0Q9, A9AGK1, A9BWI1, A9VP98, B0TC77, B0UT69, B0V9Q9, B0VSA9, B1I8L9, B1JXF8, B1Y6I7, B1YVE0, B2HVT0, B2IS63, B2JDV1, B3R0X7, B4E9G1, B5E6H6, B5YHP1, B7GXT4, B7HJ69

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	74
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1176589	GRCh37/hg19 9q34.13(chr9:135668021-135804259)x1	Pathogenic
397550	NC_000009.11:g.(135750586_135753559)_(135772997_135776102)del	Pathogenic
872680	GRCh37/hg19 9q34.13(chr9:135668021-135804259)x3	Pathogenic

SpliceAI

3388 predictions. Top by Δscore:

Variant	Effect	Δscore
9:132725921:GGTAC:G	acceptor_gain	1.0000
9:132725926:C:CC	acceptor_gain	1.0000
9:132725926:CTGCA:C	acceptor_loss	1.0000
9:132725927:T:A	acceptor_loss	1.0000
9:132727457:T:A	donor_gain	1.0000
9:132727531:CACC:C	acceptor_gain	1.0000
9:132727532:ACCC:A	acceptor_loss	1.0000
9:132727533:CC:C	acceptor_gain	1.0000
9:132727534:CC:C	acceptor_gain	1.0000
9:132727534:CCTA:C	acceptor_loss	1.0000
9:132727535:C:CA	acceptor_loss	1.0000
9:132727536:T:G	acceptor_loss	1.0000
9:132792628:GCTCA:G	donor_loss	1.0000
9:132792629:CTCA:C	donor_loss	1.0000
9:132792630:TCA:T	donor_loss	1.0000
9:132792631:CA:C	donor_loss	1.0000
9:132792633:C:CA	donor_loss	1.0000
9:132792771:AGGAA:A	acceptor_gain	1.0000
9:132792772:GGAA:G	acceptor_gain	1.0000
9:132792773:GAA:G	acceptor_gain	1.0000
9:132792774:AA:A	acceptor_gain	1.0000
9:132792776:C:CC	acceptor_gain	1.0000
9:132814728:C:CC	acceptor_gain	1.0000
9:132826852:AC:A	donor_gain	1.0000
9:132826853:CC:C	donor_gain	1.0000
9:132826950:C:CA	donor_gain	1.0000
9:132827050:AATCT:A	acceptor_gain	1.0000
9:132827053:CT:C	acceptor_gain	1.0000
9:132827054:TC:T	acceptor_loss	1.0000
9:132827055:C:CC	acceptor_gain	1.0000

AlphaMissense

3166 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:132828723:A:G	W136R	0.996
9:132828723:A:T	W136R	0.996
9:132827035:A:C	F192L	0.995
9:132827035:A:T	F192L	0.995
9:132827037:A:G	F192L	0.995
9:132828047:T:A	R174S	0.995
9:132828047:T:G	R174S	0.995
9:132792707:A:G	W350R	0.994
9:132792707:A:T	W350R	0.994
9:132866933:C:G	G64R	0.994
9:132875183:A:G	L34P	0.994
9:132823241:C:G	A285P	0.993
9:132828048:C:G	R174T	0.993
9:132725743:A:T	V462D	0.991
9:132823257:A:C	S279R	0.991
9:132823257:A:T	S279R	0.991
9:132823259:T:G	S279R	0.991
9:132828057:A:G	L171P	0.991
9:132863768:A:G	L77P	0.991
9:132863778:C:G	A74P	0.991
9:132866932:C:T	G64D	0.991
9:132866938:A:T	I62K	0.990
9:132727493:C:G	R388P	0.989
9:132823270:C:T	G275E	0.989
9:132827049:A:C	Y188D	0.989
9:132823333:A:G	L254P	0.988
9:132823231:A:C	L288R	0.987
9:132823271:C:G	G275R	0.987
9:132823271:C:T	G275R	0.987
9:132725765:C:A	G455W	0.986

dbSNP variants (sampled 300 via entrez): RS1000012 (9:132827654 A>C,T), RS1000012188 (9:132862955 G>A), RS1000022193 (9:132787051 G>A), RS1000040966 (9:132770070 C>A,G,T), RS1000055535 (9:132804833 A>C,G,T), RS1000058959 (9:132781689 T>C), RS1000074596 (9:132786837 A>G,T), RS1000088886 (9:132763159 T>C), RS1000118044 (9:132765313 A>G), RS1000134964 (9:132782319 G>A), RS1000176957 (9:132844130 G>C), RS1000233824 (9:132736024 AT>A), RS1000250553 (9:132844396 A>G,T), RS1000256533 (9:132857327 G>A), RS1000294128 (9:132872961 G>A,C)

Disease associations

OMIM: gene MIM:615365 | disease phenotypes: MIM:191100

GenCC curated gene-disease

Mondo (2): developmental and epileptic encephalopathy (MONDO:0100620), tuberous sclerosis 1 (MONDO:0008612)

Orphanet (1): Tuberous sclerosis complex (Orphanet:805)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000246_1	Attention deficit hyperactivity disorder	6.000000e-08
GCST001762_689	Obesity-related traits	5.000000e-06
GCST001850_43	Major depressive disorder	8.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004810	interleukin-6 measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C565346	Tuberous Sclerosis 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
bisphenol A	decreases methylation	1
trichostatin A	affects expression	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
jinfukang	increases expression	1
Fulvestrant	decreases methylation	1
Air Pollutants	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Phthalic Acids	increases methylation	1
Silicon Dioxide	decreases expression	1
Sodium Dodecyl Sulfate	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

26 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
NCT02201212	PHASE2	COMPLETED	Everolimus for Cancer With TSC1 or TSC2 Mutation
NCT05103358	PHASE2	ACTIVE_NOT_RECRUITING	Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)
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).
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT03817515	Not specified	APPROVED_FOR_MARKETING	Expanded Access for ABI-009 in Patients With Advanced PEComa and Patients With a Malignancy With Relevant Genetic Mutations or mTOR Pathway Activation