ADCK5

gene
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Also known as FLJ35454

Summary

ADCK5 (aarF domain containing kinase 5, HGNC:21738) is a protein-coding gene on chromosome 8q24.3, encoding Uncharacterized aarF domain-containing protein kinase 5 (Q3MIX3). The function of this protein is not yet clear.

Predicted to enable protein serine/threonine kinase activity. Located in mitochondrion.

Source: NCBI Gene 203054 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 145 total — 12 pathogenic, 4 likely-pathogenic
  • Druggable target: yes — 2 molecules with ChEMBL bioactivity
  • MANE Select transcript: NM_174922

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21738
Approved symbolADCK5
NameaarF domain containing kinase 5
Location8q24.3
Locus typegene with protein product
StatusApproved
AliasesFLJ35454
Ensembl geneENSG00000173137
Ensembl biotypeprotein_coding
OMIM621165
Entrez203054

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 17 protein_coding, 3 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 1 retained_intron

ENST00000308860, ENST00000525136, ENST00000526231, ENST00000526833, ENST00000529654, ENST00000532190, ENST00000533715, ENST00000534714, ENST00000886485, ENST00000886486, ENST00000886487, ENST00000886488, ENST00000886489, ENST00000886490, ENST00000913502, ENST00000913503, ENST00000913504, ENST00000913505, ENST00000913506, ENST00000913507, ENST00000967045, ENST00000967046, ENST00000967047, ENST00000967048

RefSeq mRNA: 1 — MANE Select: NM_174922 NM_174922

CCDS: CCDS34965

Canonical transcript exons

ENST00000308860 — 15 exons

ExonStartEnd
ENSE00001295689144392969144393242
ENSE00002195876144374047144374107
ENSE00003228407144391580144391711
ENSE00003397799144391783144391866
ENSE00003473203144391134144391274
ENSE00003477672144390856144391056
ENSE00003507800144391361144391474
ENSE00003516989144383081144383230
ENSE00003573301144392092144392170
ENSE00003578683144392776144392892
ENSE00003593402144390671144390746
ENSE00003595410144392254144392345
ENSE00003622788144379387144379490
ENSE00003637100144391941144392022
ENSE00003638157144392445144392697

Expression profiles

Bgee: expression breadth ubiquitous, 136 present calls, max score 90.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3417 / max 103.1972, expressed in 1778 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
915059.02611777
915040.3156111

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
mucosa of transverse colonUBERON:000499190.48gold quality
duodenumUBERON:000211488.53gold quality
right hemisphere of cerebellumUBERON:001489087.00gold quality
small intestine Peyer’s patchUBERON:000345486.75gold quality
small intestineUBERON:000210886.28gold quality
granulocyteCL:000009486.22gold quality
cerebellar hemisphereUBERON:000224586.22gold quality
cerebellar cortexUBERON:000212986.13gold quality
cerebellumUBERON:000203786.08gold quality
right adrenal gland cortexUBERON:003582785.84gold quality
left adrenal gland cortexUBERON:003582585.53gold quality
right adrenal glandUBERON:000123385.37gold quality
transverse colonUBERON:000115785.11gold quality
left adrenal glandUBERON:000123484.73gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099184.72gold quality
lower esophagus mucosaUBERON:003583484.44gold quality
right lobe of liverUBERON:000111484.09gold quality
spleenUBERON:000210684.04gold quality
adrenal glandUBERON:000236983.20gold quality
apex of heartUBERON:000209882.92gold quality
intestineUBERON:000016082.90gold quality
right ovaryUBERON:000211882.80gold quality
colonUBERON:000115582.44gold quality
esophagus mucosaUBERON:000246982.43gold quality
right frontal lobeUBERON:000281081.57gold quality
endocervixUBERON:000045881.56gold quality
left ovaryUBERON:000211981.53gold quality
body of stomachUBERON:000116181.39gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047381.23gold quality
vaginaUBERON:000099681.23gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-GEOD-100618yes48.69
E-ANND-3yes3.63
E-MTAB-6075no15.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

3 targeting ADCK5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6885-3P99.7570.363187
HSA-MIR-4690-3P97.0264.72981
HSA-MIR-568597.0264.341004

Literature-anchored findings (GeneRIF, showing 1)

  • aarF domain containing kinase 5 gene promotes invasion and migration of lung cancer cells through ADCK5-SOX9-PTTG1 pathway. (PMID:32277958)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioadck5ENSDARG00000075405
mus_musculusAdck5ENSMUSG00000022550
rattus_norvegicusAdck5ENSRNOG00000030334
drosophila_melanogasterAdck5FBGN0036142

Paralogs (4): ADCK1 (ENSG00000063761), COQ8B (ENSG00000123815), ADCK2 (ENSG00000133597), COQ8A (ENSG00000163050)

Protein

Protein identifiers

Uncharacterized aarF domain-containing protein kinase 5Q3MIX3 (reviewed: Q3MIX3)

All UniProt accessions (4): Q3MIX3, E9PJ20, E9PLF3, R4GN53

UniProt curated annotations — full annotation on UniProt →

Function. The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).

Subcellular location. Membrane.

Similarity. Belongs to the protein kinase superfamily. ADCK protein kinase family.

RefSeq proteins (1): NP_777582* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR004147ABC1_domDomain
IPR011009Kinase-like_dom_sfHomologous_superfamily
IPR045307ADCK1_domDomain
IPR051130Mito_struct-func_regulatorFamily

Pfam: PF03109

UniProt features (7 total): sequence conflict 3, chain 1, transmembrane region 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q3MIX3-F182.080.43

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 48 (showing top): TGCGCANK_UNKNOWN, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, GOMF_PROTEIN_KINASE_ACTIVITY, GOMF_KINASE_ACTIVITY, GOMF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, PANGAS_TUMOR_SUPPRESSION_BY_SMAD1_AND_SMAD5_DN, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, chr8q24, NKX2_3_TARGET_GENES, RYBP_TARGET_GENES, SALL4_TARGET_GENES, SNAI1_TARGET_GENES, UBN1_TARGET_GENES, ZNF561_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (4): protein serine/threonine kinase activity (GO:0004674), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (2): mitochondrion (GO:0005739), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
protein kinase activity1
binding1
transferase activity, transferring phosphorus-containing groups1
catalytic activity1
cytoplasm1
intracellular membrane-bounded organelle1
cellular anatomical structure1

Protein interactions and networks

STRING

942 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ADCK5FBXL6Q8N531605
ADCK5COQ3Q9NZJ6590
ADCK5COQ4Q9Y3A0576
ADCK5SLC33A2Q96ES6556
ADCK5COQ5Q5HYK3555
ADCK5ADCK2Q7Z695523
ADCK5LRRC14Q15048523
ADCK5MROH1Q8NDA8506
ADCK5CPSF1Q10570502
ADCK5TONSLQ96HA7497
ADCK5COQ2Q96H96481
ADCK5SLC39A4Q6P5W5460
ADCK5COQ6Q9Y2Z9459
ADCK5PPP1R16AQ96I34456
ADCK5COQ9O75208451

IntAct

18 interactions, top by confidence:

ABTypeScore
NOTCH2NLAADCK5psi-mi:“MI:0915”(physical association)0.670
ADCK5NOTCH2NLApsi-mi:“MI:0915”(physical association)0.670
ANKRD22ESYT2psi-mi:“MI:0914”(association)0.530
Dlg4ADCK5psi-mi:“MI:0407”(direct interaction)0.440
TNS2ADCK5psi-mi:“MI:0915”(physical association)0.370
HSPA6ADCK5psi-mi:“MI:0915”(physical association)0.370
ADCK5RHODpsi-mi:“MI:0915”(physical association)0.370
JunbRGPD3psi-mi:“MI:0914”(association)0.350
ADCK5ATP5F1Bpsi-mi:“MI:0914”(association)0.350
ADCK5AKR1B10psi-mi:“MI:0914”(association)0.350
ADCK5NDUFAB1psi-mi:“MI:0914”(association)0.350
ADCK5ZMPSTE24psi-mi:“MI:0914”(association)0.350
LETM1LETM2psi-mi:“MI:0914”(association)0.350
SCN3BNBASpsi-mi:“MI:0914”(association)0.350

BioGRID (18): ADCK5 (Affinity Capture-MS), NOTCH2NL (Two-hybrid), ADCK5 (Two-hybrid), ADCK5 (Affinity Capture-MS), ADCK5 (Affinity Capture-MS), HOGA1 (Affinity Capture-MS), STOML2 (Affinity Capture-MS), CHCHD2 (Affinity Capture-MS), IMMT (Affinity Capture-MS), C1QBP (Affinity Capture-MS), PMPCB (Affinity Capture-MS), ADCK5 (Affinity Capture-MS), ADCK5 (Affinity Capture-MS), TMEM160 (Affinity Capture-MS), ZMPSTE24 (Affinity Capture-MS)

ESM2 similar proteins: A0A172M468, A3QIE3, A8ACY4, A9BP42, A9MY99, B0BU10, B0RLZ0, B0U2R2, B1KR05, B2I583, B2ST34, B2VG47, B3GZD0, B4SZ75, B4TBR5, B4TNY1, B5BIY1, B5EZV0, B5FNW8, B5QW75, B5RFM6, B8F6K1, B9ME24, C0Q3E3, C3K8U2, O42653, O60111, P0A197, P0A198, Q02981, Q06567, Q2P8Q0, Q3BZ34, Q3KJC7, Q3MIX3, Q3YVD0, Q4V052, Q566J8, Q57HN6, Q5H616

Diamond homologs: A0A172M468, A0KEF8, A0L1M6, A1AI24, A1RP80, A1SAK0, A1U669, A3D9F4, A3QIE3, A4STK9, A4WFY3, A4XPM5, A4Y2Q3, A5F4G3, A6WIE7, A7MQL5, A7ZU42, A8A6U2, A8ACY4, A8G8C0, A8H968, A9KYL6, B0RLZ0, B0TJ18, B0U2R2, B1IW70, B1KR05, B1LM23, B1XAJ9, B1XWR5, B2I583, B2ST34, B2TVI6, B2VG47, B3PH50, B5FF80, B5YY84, B6EHA6, B6I4H7, B7L998

SIGNOR signaling

1 interactions.

AEffectBMechanism
ADCK5“up-regulates activity”SOX9phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic12
Likely pathogenic4
Uncertain significance99
Likely benign9
Benign1

Top pathogenic / likely-pathogenic (16)

Variant IDHGVSClassification
1454990NC_000008.10:g.(?144295143)(145701139_?)delPathogenic
148271GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3Pathogenic
1527465GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)Pathogenic
394633GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3Pathogenic
4682719GRCh37/hg19 8q24.13-24.3(chr8:126446968-146295771)x3Pathogenic
523293GRCh37/hg19 8q24.3(chr8:142840194-146280020)Pathogenic
563531GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3Pathogenic
57047GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3Pathogenic
686463GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3Pathogenic
689071GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3Pathogenic
815163GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3Pathogenic
815169GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3Pathogenic
148265GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3Likely pathogenic
148392GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3Likely pathogenic
3384214Single alleleLikely pathogenic
442205GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3Likely pathogenic

SpliceAI

2299 predictions. Top by Δscore:

VariantEffectΔscore
8:144383228:CAGG:Cdonor_loss1.0000
8:144383229:AGGTA:Adonor_loss1.0000
8:144383230:GGT:Gdonor_loss1.0000
8:144383231:GTAGG:Gdonor_loss1.0000
8:144383232:T:Gdonor_loss1.0000
8:144390842:AT:Aacceptor_gain1.0000
8:144390843:T:Gacceptor_gain1.0000
8:144390843:T:TAacceptor_gain1.0000
8:144390847:T:Aacceptor_gain1.0000
8:144390849:T:TAacceptor_gain1.0000
8:144391053:GGAG:Gdonor_gain1.0000
8:144391054:G:GTdonor_gain1.0000
8:144391054:GAGGT:Gdonor_loss1.0000
8:144391055:AGGT:Adonor_loss1.0000
8:144391056:GGT:Gdonor_loss1.0000
8:144391057:GTG:Gdonor_loss1.0000
8:144391058:T:Adonor_loss1.0000
8:144391131:CAGG:Cacceptor_loss1.0000
8:144391132:A:AGacceptor_gain1.0000
8:144391132:AG:Aacceptor_gain1.0000
8:144391132:AGGT:Aacceptor_gain1.0000
8:144391132:AGGTG:Aacceptor_gain1.0000
8:144391133:G:GAacceptor_loss1.0000
8:144391133:G:GGacceptor_gain1.0000
8:144391133:GG:Gacceptor_gain1.0000
8:144391133:GGT:Gacceptor_gain1.0000
8:144391133:GGTG:Gacceptor_gain1.0000
8:144391133:GGTGG:Gacceptor_gain1.0000
8:144391272:A:Tdonor_gain1.0000
8:144391274:GGTAT:Gdonor_loss1.0000

AlphaMissense

3769 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
8:144391218:A:CS210R0.998
8:144391220:C:AS210R0.998
8:144391220:C:GS210R0.998
8:144391274:G:CK228N0.998
8:144391274:G:TK228N0.998
8:144392005:A:GD360G0.997
8:144392140:A:TD382V0.997
8:144390954:G:CK147N0.994
8:144390954:G:TK147N0.994
8:144391233:C:GH215D0.994
8:144392141:C:AD382E0.994
8:144392141:C:GD382E0.994
8:144390905:C:AA131D0.993
8:144391272:A:GK228E0.993
8:144391613:T:CF278L0.993
8:144391615:C:AF278L0.993
8:144391615:C:GF278L0.993
8:144392140:A:CD382A0.993
8:144392279:T:AW401R0.993
8:144392279:T:CW401R0.993
8:144390963:G:CQ150H0.992
8:144390963:G:TQ150H0.992
8:144391270:T:AV227E0.992
8:144391634:G:CA285P0.992
8:144391790:T:CL313P0.992
8:144392006:C:AD360E0.992
8:144392006:C:GD360E0.992
8:144392021:C:AN365K0.992
8:144392021:C:GN365K0.992
8:144392626:C:AN483K0.992

dbSNP variants (sampled 300 via entrez): RS1000037071 (8:144379294 C>T), RS1000323141 (8:144373060 A>G), RS1000673675 (8:144373328 T>C), RS1001094363 (8:144377624 G>A), RS1001325200 (8:144385243 G>A), RS1001364441 (8:144393113 T>C), RS1001535833 (8:144388250 G>A,C,T), RS1001758144 (8:144382497 A>G,T), RS1001943346 (8:144374606 C>T), RS1002398784 (8:144374344 C>T), RS1002504892 (8:144371382 C>A), RS1003435139 (8:144383432 C>T), RS1003664988 (8:144375503 A>G), RS1003920382 (8:144391867 G>A,C,T), RS1004150617 (8:144386046 T>C)

Disease associations

OMIM: gene MIM:621165 | disease phenotypes: MIM:131950, MIM:226670, MIM:612138, MIM:613723, MIM:616487, MIM:236100, MIM:614707, MIM:179613

GenCC curated gene-disease

Mondo (9): epidermolysis bullosa simplex 5A, Ogna type (MONDO:0007555), epidermolysis bullosa simplex 5B, with muscular dystrophy (MONDO:0009181), epidermolysis bullosa simplex 5C, with pyloric atresia (MONDO:0012807), autosomal recessive limb-girdle muscular dystrophy type 2Q (MONDO:0013390), epidermolysis bullosa simplex with nail dystrophy (MONDO:0014661), holoprosencephaly (MONDO:0016296), Brown-Vialetto-van Laere syndrome 2 (MONDO:0013867), recombinant 8 syndrome (MONDO:0008365), intellectual disability (MONDO:0001071)

Orphanet (9): Epidermolysis bullosa simplex with pyloric atresia (Orphanet:158684), Holoprosencephaly (Orphanet:2162), Plectin-related limb-girdle muscular dystrophy R17 (Orphanet:254361), Epidermolysis bullosa simplex with muscular dystrophy (Orphanet:257), PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (Orphanet:79401), RFVT3-related riboflavin transporter deficiency (Orphanet:572550), Riboflavin transporter deficiency (Orphanet:97229), Recombinant 8 syndrome (Orphanet:96167), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST003981_3Insomnia7.000000e-08

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0007876insomnia measurement

MeSH disease descriptors (6)

DescriptorNameTree numbers
D016142HoloprosencephalyC05.660.207.410; C10.500.034.875; C16.131.077.410; C16.131.260.380; C16.131.621.207.410; C16.131.666.034.875; C16.320.180.380
D008607Intellectual DisabilityC10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C535955Epidermolysa bullosa simplex and limb girdle muscular dystrophy (supp.)
C567408Epidermolysis Bullosa Simplex With Pyloric Atresia (supp.)
C535962Epidermolysis bullosa simplex, Ogna type (supp.)
C535296Recombinant chromosome 8 syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105886 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 10,850 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL180022NERATINIB49,404
CHEMBL1091644LINSITINIB31,446

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — ABC1-B subfamily

ChEMBL bioactivities

2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
6.70Kd202nMLINSITINIB
6.10Kd796nMNERATINIB

PubChem BioAssay actives

2 with measured affinity, of 143 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
3-[8-amino-1-(2-phenylquinolin-7-yl)imidazo[1,5-a]pyrazin-3-yl]-1-methylcyclobutan-1-ol1424906: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.kd0.2020uM
Neratinib1424906: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.kd0.7960uM

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

ChemicalActions (top 5)PubMed papers
Tobacco Smoke Pollutiondecreases expression, affects expression2
ferrous chloridedecreases expression1
di-n-butylphosphoric acidaffects expression1
abrinedecreases expression1
jinfukangincreases expression, affects cotreatment1
Arsenicaffects methylation1
Cisplatinincreases expression, affects cotreatment1
Hydrogen Peroxideaffects expression1
Smokedecreases expression1
Acrylamidedecreases expression1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL3991619BindingKinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by maThe target landscape of clinical kinase drugs. — Science

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

CellosaurusNameCategorySex
CVCL_SB65HAP1 ADCK5 (-) 1Cancer cell lineMale
CVCL_SB66HAP1 ADCK5 (-) 2Cancer cell lineMale

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT05657860PHASE4COMPLETEDGuanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479PHASE4RECRUITINGMetformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829PHASE4WITHDRAWNValbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198PHASE4NOT_YET_RECRUITINGDeutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736PHASE3COMPLETEDClinical 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
NCT02304302PHASE2COMPLETEDDown Syndrome Memantine Follow-up Study
NCT03862950PHASE2COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226PHASE2UNKNOWNStudy to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856PHASE2COMPLETEDEvaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320PHASE1COMPLETEDClinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361PHASE1ENROLLING_BY_INVITATIONSensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764PHASE1COMPLETEDUse of MRI and cTBS for Catatonia in Autism
NCT06586827PHASE1COMPLETEDImpact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940PHASE1NOT_YET_RECRUITINGEscalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT05989620Not specifiedRECRUITINGLong-Term Development of Muscular Dystrophy Outcome Assessments
NCT00005016Not specifiedCOMPLETEDStudy of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly
NCT00088426Not specifiedCOMPLETEDClinical and Genetic Studies on Holoprosencephaly
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