ACOT4

Summary

ACOT4 (acyl-CoA thioesterase 4, HGNC:19748) is a protein-coding gene on chromosome 14q24.3, encoding Peroxisomal succinyl-coenzyme A thioesterase (Q8N9L9). Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels.

Enables fatty acyl-CoA hydrolase activity and succinyl-CoA hydrolase activity. Involved in carboxylic acid metabolic process and succinyl-CoA metabolic process. Located in peroxisome.

Source: NCBI Gene 122970 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 80 total
• MANE Select transcript: NM_152331

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19748
Approved symbol	ACOT4
Name	acyl-CoA thioesterase 4
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ31235, PTE-Ib, PTE2B
Ensembl gene	ENSG00000177465
Ensembl biotype	protein_coding
OMIM	614314
Entrez	122970

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000326303

RefSeq mRNA: 1 — MANE Select: NM_152331 NM_152331

CCDS: CCDS9817

Canonical transcript exons

ENST00000326303 — 3 exons

Exon	Start	End
ENSE00001248932	73593702	73593904
ENSE00001248937	73595049	73595766
ENSE00001296271	73591873	73592416

Expression profiles

Bgee: expression breadth ubiquitous, 169 present calls, max score 92.02.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0914 / max 17.9877, expressed in 468 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
140547	1.0914	468

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	92.02	silver quality
ileal mucosa	UBERON:0000331	81.33	gold quality
right lobe of liver	UBERON:0001114	79.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.22	gold quality
oocyte	CL:0000023	77.60	silver quality
liver	UBERON:0002107	77.41	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.24	gold quality
adult mammalian kidney	UBERON:0000082	74.89	gold quality
buccal mucosa cell	CL:0002336	74.60	gold quality
secondary oocyte	CL:0000655	74.44	gold quality
prefrontal cortex	UBERON:0000451	72.40	gold quality
jejunal mucosa	UBERON:0000399	72.03	gold quality
mucosa of transverse colon	UBERON:0004991	71.57	gold quality
amniotic fluid	UBERON:0000173	71.49	gold quality
duodenum	UBERON:0002114	71.15	gold quality
kidney	UBERON:0002113	70.84	gold quality
upper arm skin	UBERON:0004263	70.78	gold quality
decidua	UBERON:0002450	70.00	silver quality
islet of Langerhans	UBERON:0000006	69.69	gold quality
adipose tissue	UBERON:0001013	69.62	gold quality
lower esophagus mucosa	UBERON:0035834	69.31	gold quality
frontal cortex	UBERON:0001870	68.34	gold quality
placenta	UBERON:0001987	67.93	gold quality
subcutaneous adipose tissue	UBERON:0002190	67.42	gold quality
Brodmann (1909) area 9	UBERON:0013540	67.41	gold quality
cortex of kidney	UBERON:0001225	67.23	gold quality
anterior cingulate cortex	UBERON:0009835	67.15	gold quality
neocortex	UBERON:0001950	67.09	gold quality
upper leg skin	UBERON:0004262	66.98	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	66.94	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.41

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYCN

miRNA regulators (miRDB)

8 targeting ACOT4, 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-505-3P	99.19	69.71	896
HSA-MIR-29A-5P	99.08	68.59	1813
HSA-MIR-4724-5P	98.87	67.75	1324
HSA-MIR-942-3P	98.81	69.04	876
HSA-MIR-3192-3P	98.62	65.80	970
HSA-MIR-3920	97.75	69.02	1168
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-4704-5P	96.13	68.67	608

Literature-anchored findings (GeneRIF, showing 3)

• ACOT4 and ACOT8 are responsible for the termination of beta-oxidation of dicarboxylic acids of medium-chain length with the concomitant release of the corresponding free acids (PMID:16141203)
• Exome sequencing revealed an association with ACOT4 and increased risk of ischemic stroke. (PMID:25961151)
• ACOT4 accumulation via AKT-mediated phosphorylation promotes pancreatic tumourigenesis. (PMID:33148467)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	acot20	ENSDARG00000042510
danio_rerio	acot21	ENSDARG00000042513
danio_rerio	acot22	ENSDARG00000058945
mus_musculus	Acot4	ENSMUSG00000052392
rattus_norvegicus	Acot4	ENSRNOG00000046864
caenorhabditis_elegans	C31H5.6	WBGENE00007857
caenorhabditis_elegans		WBGENE00019404
caenorhabditis_elegans	T05E7.1	WBGENE00020258
caenorhabditis_elegans	W03D8.8	WBGENE00020989

Paralogs (4): ACOT2 (ENSG00000119673), BAAT (ENSG00000136881), ACOT1 (ENSG00000184227), ACOT6 (ENSG00000205669)

Protein

Protein identifiers

Peroxisomal succinyl-coenzyme A thioesterase — Q8N9L9 (reviewed: Q8N9L9)

Alternative names: Acyl-coenzyme A thioesterase 4, PTE-2b, Peroxisomal acyl coenzyme A thioester hydrolase Ib, Peroxisomal long-chain acyl-CoA thioesterase Ib

All UniProt accessions (1): Q8N9L9

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels. Functions as a peroxisomal succinyl-coenzyme A thioesterase that can also hydrolyze glutaryl-CoA and long chain saturated acyl-CoAs.

Subcellular location. Peroxisome.

Tissue specificity. Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle.

Pathway. Lipid metabolism; fatty acid biosynthesis.

Miscellaneous. Compared to mouse peroxisomal succinyl-coenzyme A thioesterase/ACOT4, the human enzyme has a broad substrate specificity overlapping the activity of three mouse acyl-coenzyme A thioesterases, providing an explanation for the unexpectedly low number of acyl-coenzyme A thioesterase genes in the human genome.

Similarity. Belongs to the C/M/P thioester hydrolase family.

RefSeq proteins (1): NP_689544* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006862	Thio_Ohase/aa_AcTrfase	Domain
IPR014940	BAAT_C	Domain
IPR016662	Acyl-CoA_thioEstase_long-chain	Family
IPR029058	AB_hydrolase_fold	Homologous_superfamily
IPR042490	Thio_Ohase/BAAT_N	Homologous_superfamily

Pfam: PF04775, PF08840

Catalyzed reactions (Rhea), 11 shown:

• succinyl-CoA + H2O = succinate + CoA + H(+) (RHEA:11516)
• hexadecanoyl-CoA + H2O = hexadecanoate + CoA + H(+) (RHEA:16645)
• dodecanoyl-CoA + H2O = dodecanoate + CoA + H(+) (RHEA:30135)
• octadecanoyl-CoA + H2O = octadecanoate + CoA + H(+) (RHEA:30139)
• decanoyl-CoA + H2O = decanoate + CoA + H(+) (RHEA:40059)
• tetradecanoyl-CoA + H2O = tetradecanoate + CoA + H(+) (RHEA:40119)
• (9Z)-octadecenoyl-CoA + H2O = (9Z)-octadecenoate + CoA + H(+) (RHEA:40139)
• (9Z,12Z)-octadecadienoyl-CoA + H2O = (9Z,12Z)-octadecadienoate + CoA + H(+) (RHEA:40143)
• eicosanoyl-CoA + H2O = eicosanoate + CoA + H(+) (RHEA:40147)
• (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + CoA + H(+) (RHEA:40151)
• glutaryl-CoA + H2O = glutarate + CoA + H(+) (RHEA:40575)

UniProt features (45 total): strand 23, helix 9, turn 3, active site 3, sequence variant 2, sequence conflict 2, chain 1, short sequence motif 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3K2I	X-RAY DIFFRACTION	2.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N9L9-F1	96.47	0.96

Functional residue map

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

Catalytic / active sites (3): 232 (charge relay system); 326 (charge relay system); 360 (charge relay system)

Post-translational modifications (1): 313

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-390247	Beta-oxidation of very long chain fatty acids
R-HSA-9033241	Peroxisomal protein import
R-HSA-1430728	Metabolism
R-HSA-390918	Peroxisomal lipid metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-8978868	Fatty acid metabolism
R-HSA-9609507	Protein localization

MSigDB gene sets: 71 (showing top): GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, KEGG_BIOSYNTHESIS_OF_UNSATURATED_FATTY_ACIDS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_DICARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_SHORT_CHAIN_FATTY_ACID_METABOLIC_PROCESS, chr14q24, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_VERY_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_FATTY_ACID_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS

GO Biological Process (13): very long-chain fatty acid metabolic process (GO:0000038), long-chain fatty acid metabolic process (GO:0001676), succinyl-CoA metabolic process (GO:0006104), fatty acid metabolic process (GO:0006631), fatty acid biosynthetic process (GO:0006633), acyl-CoA metabolic process (GO:0006637), saturated monocarboxylic acid metabolic process (GO:0032788), unsaturated monocarboxylic acid metabolic process (GO:0032789), dicarboxylic acid metabolic process (GO:0043648), dicarboxylic acid catabolic process (GO:0043649), short-chain fatty acid metabolic process (GO:0046459), lipid metabolic process (GO:0006629), monocarboxylic acid metabolic process (GO:0032787)

GO Molecular Function (5): succinyl-CoA hydrolase activity (GO:0004778), fatty acyl-CoA hydrolase activity (GO:0047617), carboxylic ester hydrolase activity (GO:0052689), hydrolase activity (GO:0016787), thiolester hydrolase activity (GO:0016790)

GO Cellular Component (3): peroxisome (GO:0005777), peroxisomal matrix (GO:0005782), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Peroxisomal lipid metabolism	1
Protein localization	1
Fatty acid metabolism	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fatty acid metabolic process	4
carboxylic acid metabolic process	3
monocarboxylic acid metabolic process	2
acyl-CoA hydrolase activity	2
hydrolase activity, acting on ester bonds	2
acyl-CoA metabolic process	1
lipid metabolic process	1
lipid biosynthetic process	1
monocarboxylic acid biosynthetic process	1
nucleoside phosphate metabolic process	1
sulfur compound metabolic process	1
purine-containing compound metabolic process	1
dicarboxylic acid metabolic process	1
carboxylic acid catabolic process	1
primary metabolic process	1
catalytic activity	1
microbody	1
peroxisome	1
microbody lumen	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

779 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACOT4	ACOT8	O14734	698
ACOT4	EHHADH	Q08426	667
ACOT4	ACOX2	Q99424	617
ACOT4	ACOT13	Q9NPJ3	595
ACOT4	ACOT9	Q9Y305	577
ACOT4	ACOT11	Q8WXI4	514
ACOT4	AFMID	Q63HM1	481
ACOT4	AGXT	P21549	469
ACOT4	ACOT7	O00154	461
ACOT4	ACOX3	O15254	460
ACOT4	ACOX1	Q15067	454
ACOT4	PEX11A	O75192	449
ACOT4	ABHD17B	Q5VST6	446
ACOT4	FAAH	O00519	436
ACOT4	HEATR4	Q86WZ0	428

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ESRRG	DDX3Y	psi-mi:“MI:0914”(association)	0.350
MTERF3	ACOT4	psi-mi:“MI:0914”(association)	0.350
MTERF3	SELENBP1	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): ACOT4 (Affinity Capture-MS), ACOT4 (Affinity Capture-MS), ACOT4 (Protein-peptide)

ESM2 similar proteins: A0JMS7, A2AKK5, A5PJN5, B3MF31, O55137, O55171, O88267, P08587, P10937, P21980, P21981, P34913, P40935, P40936, P49753, P51176, P70683, Q01841, Q14032, Q32Q92, Q3I5F7, Q4V8A1, Q5BJ91, Q5FVR5, Q5R8R3, Q5XHI4, Q60963, Q63276, Q6NTR1, Q6P6V7, Q6Q2C2, Q6Q2Z6, Q6QR59, Q7TS68, Q86TX2, Q8BGG9, Q8BNE1, Q8BWN8, Q8C7R4, Q8N9L9

Diamond homologs: A2AKK5, O55137, O55171, O88267, P49753, Q14032, Q32Q92, Q3I5F7, Q5FVR5, Q63276, Q6Q2Z6, Q86TX2, Q8BGG9, Q8BWN8, Q8N9L9, Q91X34, Q9QYR7, Q9QYR9

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
AKT1	“up-regulates quantity by stabilization”	ACOT4	phosphorylation
AKT	“up-regulates quantity by stabilization”	ACOT4	phosphorylation
ACOT4	“up-regulates quantity”	“coenzyme A(4-)”	“chemical modification”
ACOT4	“down-regulates quantity”	succinyl-CoA(5-)	“chemical modification”
ACOT4	“up-regulates quantity”	glutarate(2-)	“chemical modification”
ACOT4	“down-regulates quantity”	glutaryl-CoA(5-)	“chemical modification”
HSPA1A	“down-regulates quantity by destabilization”	ACOT4	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	76
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

283 predictions. Top by Δscore:

Variant	Effect	Δscore
14:73593697:TCTA:T	acceptor_loss	1.0000
14:73593699:TAG:T	acceptor_loss	1.0000
14:73593700:A:AG	acceptor_gain	1.0000
14:73593701:G:GA	acceptor_loss	1.0000
14:73593701:G:GG	acceptor_gain	1.0000
14:73593875:GCC:G	donor_gain	1.0000
14:73592412:GCCAG:G	donor_gain	0.9900
14:73592414:CAG:C	donor_loss	0.9900
14:73592415:AG:A	donor_loss	0.9900
14:73592416:GG:G	donor_loss	0.9900
14:73592417:G:GA	donor_loss	0.9900
14:73592418:T:G	donor_loss	0.9900
14:73593859:G:GT	donor_gain	0.9900
14:73593878:G:GG	donor_gain	0.9900
14:73595043:TTCCA:T	acceptor_loss	0.9900
14:73595044:TCCAG:T	acceptor_loss	0.9900
14:73595045:CCA:C	acceptor_loss	0.9900
14:73595046:CA:C	acceptor_loss	0.9900
14:73593699:TAGGA:T	acceptor_gain	0.9800
14:73593700:AG:A	acceptor_gain	0.9800
14:73593701:GG:G	acceptor_gain	0.9800
14:73593701:GGA:G	acceptor_gain	0.9800
14:73593701:GGAC:G	acceptor_gain	0.9800
14:73593872:G:GT	donor_gain	0.9800
14:73595047:A:AG	acceptor_gain	0.9800
14:73595048:G:GG	acceptor_gain	0.9800
14:73592417:G:GG	donor_gain	0.9700
14:73593700:AGGA:A	acceptor_gain	0.9700
14:73593701:GGACC:G	acceptor_gain	0.9600
14:73593900:CCCAG:C	donor_loss	0.9600

AlphaMissense

2713 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:73595143:T:A	V252D	0.979
14:73593770:A:C	S176R	0.975
14:73593772:C:A	S176R	0.975
14:73593772:C:G	S176R	0.975
14:73592095:T:C	F46L	0.974
14:73592097:C:A	F46L	0.974
14:73592097:C:G	F46L	0.974
14:73592173:T:C	F72L	0.973
14:73592175:C:A	F72L	0.973
14:73592175:C:G	F72L	0.973
14:73592404:T:C	F149L	0.972
14:73592406:C:A	F149L	0.972
14:73592406:C:G	F149L	0.972
14:73595153:T:A	N255K	0.971
14:73595153:T:G	N255K	0.971
14:73595365:A:C	D326A	0.971
14:73595364:G:C	D326H	0.970
14:73595601:T:C	F405L	0.968
14:73595603:C:A	F405L	0.968
14:73595603:C:G	F405L	0.968
14:73595102:T:G	C238W	0.967
14:73595379:A:C	S331R	0.967
14:73595381:T:A	S331R	0.967
14:73595381:T:G	S331R	0.967
14:73595344:T:C	L319P	0.966
14:73592338:C:A	R127S	0.965
14:73595365:A:T	D326V	0.965
14:73595068:G:A	G227E	0.963
14:73592244:G:C	K95N	0.962
14:73592244:G:T	K95N	0.962

dbSNP variants (sampled 300 via entrez): RS1000172637 (14:73590448 A>C,G), RS1000236440 (14:73591535 C>T), RS1000562894 (14:73591231 A>G), RS1000696111 (14:73596091 T>C), RS1000912901 (14:73591512 C>T), RS1000946553 (14:73590514 C>T), RS1001641069 (14:73592026 G>A,T), RS1001693459 (14:73591808 T>C), RS1001976554 (14:73590814 T>C), RS1002571461 (14:73594272 A>G), RS1002696206 (14:73593020 A>G), RS1002927779 (14:73594505 A>G), RS1004195349 (14:73595749 C>A,G), RS1004322209 (14:73590189 G>T), RS1004375914 (14:73590081 A>C,G)

Disease associations

OMIM: gene MIM:614314 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002761_6	Hippocampal volume	4.000000e-06
GCST009733_63	Urinary metabolite levels in chronic kidney disease	1.000000e-52
GCST009733_91	Urinary metabolite levels in chronic kidney disease	2.000000e-25

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005035	hippocampal volume
EFO:0005116	urinary metabolite measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	2
Benzo(a)pyrene	decreases expression, decreases methylation	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	affects expression, decreases expression	2
Particulate Matter	increases abundance, increases expression	2
GSK-J4	decreases expression	1
propionaldehyde	increases expression	1
sulforaphane	decreases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
nickel sulfate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
GW 4064	affects cotreatment, decreases expression	1
GW 7647	increases expression, affects cotreatment	1
6-(4-chlorophenyl)imidazo(2,1-b)(1,3)thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime	increases expression, affects cotreatment	1
abrine	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Coumestrol	affects cotreatment, increases expression	1
Nickel	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Oleic Acid	affects cotreatment, increases expression, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders