CAPN12

Summary

CAPN12 (calpain 12, HGNC:13249) is a protein-coding gene on chromosome 19q13.2, encoding Calpain-12 (Q6ZSI9). Calcium-regulated non-lysosomal thiol-protease.

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family.

Source: NCBI Gene 147968 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability (Disputed Evidence, GenCC)
• GWAS associations: 5
• Clinical variants (ClinVar): 266 total
• MANE Select transcript: NM_144691

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13249
Approved symbol	CAPN12
Name	calpain 12
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000182472
Ensembl biotype	protein_coding
OMIM	608839
Entrez	147968

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 5 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay

ENST00000328867, ENST00000593700, ENST00000594497, ENST00000594552, ENST00000595177, ENST00000597354, ENST00000597716, ENST00000597740, ENST00000597987, ENST00000598684, ENST00000601685, ENST00000601953

RefSeq mRNA: 1 — MANE Select: NM_144691 NM_144691

CCDS: CCDS12519

Canonical transcript exons

ENST00000328867 — 21 exons

Exon	Start	End
ENSE00001367197	38743033	38743102
ENSE00001367263	38738574	38738648
ENSE00001369214	38737156	38737388
ENSE00001370127	38735502	38735544
ENSE00001373138	38738418	38738503
ENSE00001379160	38743929	38744474
ENSE00001379652	38738273	38738347
ENSE00001379747	38737475	38737638
ENSE00001387638	38740051	38740219
ENSE00002534107	38736552	38736563
ENSE00003097816	38730192	38730878
ENSE00003459190	38730965	38731023
ENSE00003517908	38736110	38736318
ENSE00003521661	38734142	38734204
ENSE00003535958	38734319	38734389
ENSE00003567432	38733703	38733781
ENSE00003638034	38742410	38742528
ENSE00003657269	38734813	38734870
ENSE00003665903	38731107	38731223
ENSE00003693511	38735370	38735429
ENSE00003788081	38741777	38741910

Expression profiles

Bgee: expression breadth ubiquitous, 187 present calls, max score 99.37.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9467 / max 36.6049, expressed in 339 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180802	0.5350	248
180800	0.3151	153
180801	0.0965	47

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	99.37	gold quality
gall bladder	UBERON:0002110	95.75	gold quality
right lobe of liver	UBERON:0001114	93.99	gold quality
kidney epithelium	UBERON:0004819	93.15	silver quality
lower esophagus mucosa	UBERON:0035834	92.05	gold quality
cardiac muscle of right atrium	UBERON:0003379	90.55	gold quality
left ventricle myocardium	UBERON:0006566	90.22	gold quality
buccal mucosa cell	CL:0002336	89.97	gold quality
right uterine tube	UBERON:0001302	89.39	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.13	gold quality
metanephros cortex	UBERON:0010533	87.10	gold quality
parotid gland	UBERON:0001831	85.96	gold quality
adult mammalian kidney	UBERON:0000082	85.93	gold quality
mucosa of transverse colon	UBERON:0004991	85.75	gold quality
epithelial cell of pancreas	CL:0000083	84.81	silver quality
cortex of kidney	UBERON:0001225	84.00	gold quality
spleen	UBERON:0002106	83.31	gold quality
liver	UBERON:0002107	83.24	gold quality
nasal cavity epithelium	UBERON:0005384	82.09	gold quality
kidney	UBERON:0002113	81.56	gold quality
metanephros	UBERON:0000081	81.44	gold quality
oocyte	CL:0000023	81.23	gold quality
superficial temporal artery	UBERON:0001614	81.02	silver quality
myocardium	UBERON:0002349	80.83	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.38	gold quality
nasal cavity mucosa	UBERON:0001826	79.21	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.12	gold quality
body of pancreas	UBERON:0001150	78.79	gold quality
granulocyte	CL:0000094	78.43	gold quality
small intestine Peyer’s patch	UBERON:0003454	77.58	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	40.23
E-GEOD-70580	no	336.84
E-GEOD-86618	no	106.46
E-GEOD-124858	no	45.94
E-CURD-112	no	3.06
E-ANND-3	no	2.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting CAPN12, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-876-3P	98.76	68.23	945
HSA-MIR-330-5P	98.73	67.63	1788
HSA-MIR-12114	98.70	63.45	730
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-1261	98.62	68.10	896
HSA-MIR-4782-5P	98.35	69.33	1474
HSA-MIR-5706	98.35	69.33	1463
HSA-MIR-326	98.25	66.44	1565
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-8089	97.74	66.21	1698
HSA-MIR-3144-5P	97.64	65.45	646

Literature-anchored findings (GeneRIF, showing 1)

• calpain 12 plays an essential role during epidermal ontogenesis and normal hair follicle cycling. (PMID:27769845)

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
mus_musculus	Capn12	ENSMUSG00000054083
rattus_norvegicus	Capn12	ENSRNOG00000020389
drosophila_melanogaster	CalpB	FBGN0025866
drosophila_melanogaster	Pef	FBGN0033529
caenorhabditis_elegans		WBGENE00000542
caenorhabditis_elegans	clp-3	WBGENE00000544
caenorhabditis_elegans		WBGENE00000546
caenorhabditis_elegans		WBGENE00000547
caenorhabditis_elegans		WBGENE00006606
caenorhabditis_elegans	clp-8	WBGENE00009695
caenorhabditis_elegans	clpr-3	WBGENE00010417
caenorhabditis_elegans	clpr-1	WBGENE00012233
caenorhabditis_elegans	clpr-3	WBGENE00013184

Paralogs (20): CAPN1 (ENSG00000014216), SRI (ENSG00000075142), CAPN6 (ENSG00000077274), CAPN3 (ENSG00000092529), CAPN15 (ENSG00000103326), GCA (ENSG00000115271), ADGB (ENSG00000118492), CAPNS1 (ENSG00000126247), CAPN7 (ENSG00000131375), CAPN9 (ENSG00000135773), CAPN11 (ENSG00000137225), CAPN10 (ENSG00000142330), CAPN5 (ENSG00000149260), PEF1 (ENSG00000162517), CAPN2 (ENSG00000162909), CAPN13 (ENSG00000162949), CAPN8 (ENSG00000203697), CAPN14 (ENSG00000214711), PDCD6 (ENSG00000249915), CAPNS2 (ENSG00000256812)

Protein

Protein identifiers

Calpain-12 — Q6ZSI9 (reviewed: Q6ZSI9)

Alternative names: Calcium-activated neutral proteinase 12

All UniProt accessions (7): Q6ZSI9, M0QXJ6, M0QZ20, M0QZT6, M0R052, M0R0X4, M0R3D7

UniProt curated annotations — full annotation on UniProt →

Function. Calcium-regulated non-lysosomal thiol-protease.

Similarity. Belongs to the peptidase C2 family.

RefSeq proteins (1): NP_653292* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000169	Pept_cys_AS	Active_site
IPR001300	Peptidase_C2_calpain_cat	Domain
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR022682	Calpain_domain_III	Domain
IPR022683	Calpain_III	Domain
IPR022684	Calpain_cysteine_protease	Family
IPR033883	C2_III	Domain
IPR036213	Calpain_III_sf	Homologous_superfamily
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily

Pfam: PF00648, PF01067

UniProt features (16 total): binding site 5, region of interest 3, active site 3, domain 2, chain 1, sequence variant 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZSI9-F1	86.63	0.60

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): 105; 259; 283

Ligand- & substrate-binding residues (5): 633; 635; 637; 639; 644

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1474228	Degradation of the extracellular matrix
R-HSA-1474244	Extracellular matrix organization

MSigDB gene sets: 71 (showing top): TGACCTY_ERR1_Q2, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, BACH2_01, TGANTCA_AP1_C, NRF2_Q4, ATF4_Q2, WHN_B, NFE2_01, GOBP_PROTEOLYSIS, ER_Q6_02, GOMF_PEPTIDASE_ACTIVITY, GOMF_CALCIUM_DEPENDENT_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY, AP1_Q6_01, KRIEG_HYPOXIA_NOT_VIA_KDM3A, RREB1_01

GO Biological Process (1): proteolysis (GO:0006508)

GO Molecular Function (6): calcium-dependent cysteine-type endopeptidase activity (GO:0004198), calcium ion binding (GO:0005509), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (2): cytoplasm (GO:0005737), endomembrane system (GO:0012505)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Extracellular matrix organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
protein metabolic process	1
cysteine-type endopeptidase activity	1
metal ion binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

889 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CAPN12	ACTN4	O43707	788
CAPN12	TMEM244	Q5VVB8	439
CAPN12	USF3	Q68DE3	433
CAPN12	CAST	P20810	408
CAPN12	FAM98C	Q17RN3	400
CAPN12	CABP7	Q86V35	386
CAPN12	RHBDL3	P58872	382
CAPN12	ASB3	Q9Y575	376
CAPN12	MTFR1	Q15390	371
CAPN12	ADGRG7	Q96K78	370
CAPN12	SARAF	Q96BY9	338
CAPN12	CAAP1	Q9H8G2	336
CAPN12	CCDC144NL	Q6NUI1	323
CAPN12	MBLAC1	A4D2B0	319
CAPN12	RIT2	Q99578	315

IntAct

7 interactions, top by confidence:

A	B	Type	Score
KIF3A	KIF3C	psi-mi:“MI:0914”(association)	0.730
CPLX3	CIAO1	psi-mi:“MI:0914”(association)	0.530
CAPN12	TCP1	psi-mi:“MI:0915”(physical association)	0.400
CAPN12	RFC5	psi-mi:“MI:0915”(physical association)	0.400
PTDSS1	IGLL5	psi-mi:“MI:0914”(association)	0.350
CAPN12	KIF2A	psi-mi:“MI:0914”(association)	0.350

BioGRID (28): CAPN12 (Proximity Label-MS), CAPN12 (Proximity Label-MS), CAPN12 (Affinity Capture-RNA), CAPN12 (Affinity Capture-MS), INA (Affinity Capture-MS), CAPN12 (Affinity Capture-MS), KIAA0753 (Affinity Capture-MS), DHX40 (Affinity Capture-MS), ORC3 (Affinity Capture-MS), CAPN12 (Affinity Capture-MS), DOCK7 (Affinity Capture-MS), MCMBP (Affinity Capture-MS), KIF20A (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), KIF2A (Affinity Capture-MS)

ESM2 similar proteins: A0A061IR73, A0A0U1RPR8, A0A7N9VSG0, A7YSY2, D3ZX08, D4A2B7, O15381, O19114, O43542, O43824, O88202, P32794, P40694, P51839, P51840, P52333, P52785, P54777, P55205, Q02846, Q08DH8, Q0VA52, Q13608, Q14CH7, Q1HG60, Q2NKY8, Q3U6U5, Q3UMC0, Q3ZBE0, Q5BJS0, Q5E9L5, Q5JTZ9, Q5PQY6, Q5R607, Q5RCH4, Q6NZB1, Q6ZSI9, Q7L2E3, Q80SX8, Q8NB90

Diamond homologs: A6NHC0, A8MX76, G3V7W1, O08529, O08688, O14815, O15484, O23184, O35350, O35646, O35920, O75808, O88456, O88501, P00789, P04574, P04632, P05044, P06813, P06814, P06815, P07384, P13135, P16259, P17655, P20807, P27398, P27730, P28676, P30626, P34308, P35750, P43367, P43368, P51186, P97571, Q07009, Q11002, Q22036, Q27970

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	156
Likely benign	34
Benign	52

Top pathogenic / likely-pathogenic (0)

SpliceAI

3293 predictions. Top by Δscore:

Variant	Effect	Δscore
19:38731101:A:AC	donor_gain	1.0000
19:38731102:C:CC	donor_gain	1.0000
19:38731103:TCA:T	donor_loss	1.0000
19:38731104:CA:C	donor_loss	1.0000
19:38731105:A:AC	donor_gain	1.0000
19:38731106:C:CA	donor_gain	1.0000
19:38731106:CA:C	donor_gain	1.0000
19:38731106:CAG:C	donor_gain	1.0000
19:38731106:CAGA:C	donor_gain	1.0000
19:38731106:CAGAA:C	donor_gain	1.0000
19:38731221:AGC:A	acceptor_gain	1.0000
19:38731222:GC:G	acceptor_gain	1.0000
19:38731223:CC:C	acceptor_gain	1.0000
19:38731224:C:CA	acceptor_loss	1.0000
19:38731224:C:CC	acceptor_gain	1.0000
19:38736109:CA:C	donor_gain	1.0000
19:38736109:CACGG:C	donor_gain	1.0000
19:38737150:CCTCA:C	donor_loss	1.0000
19:38737151:CTCA:C	donor_loss	1.0000
19:38737153:CAC:C	donor_loss	1.0000
19:38737154:A:C	donor_loss	1.0000
19:38737316:T:TA	donor_gain	1.0000
19:38737321:AT:A	donor_gain	1.0000
19:38737322:T:TA	donor_gain	1.0000
19:38737334:T:TA	donor_gain	1.0000
19:38740047:TTA:T	donor_loss	1.0000
19:38740048:TACC:T	donor_loss	1.0000
19:38740049:A:AC	donor_gain	1.0000
19:38740049:ACCAG:A	donor_loss	1.0000
19:38740050:C:CC	donor_gain	1.0000

AlphaMissense

4683 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:38738275:G:C	F321L	0.998
19:38738275:G:T	F321L	0.998
19:38738277:A:G	F321L	0.998
19:38738335:C:A	W301C	0.997
19:38738335:C:G	W301C	0.997
19:38738428:A:G	W294R	0.996
19:38738428:A:T	W294R	0.996
19:38737590:G:C	C338W	0.995
19:38738440:A:G	W290R	0.994
19:38738440:A:T	W290R	0.994
19:38736148:G:C	F515L	0.993
19:38736148:G:T	F515L	0.993
19:38736150:A:G	F515L	0.993
19:38737608:G:C	F332L	0.993
19:38737608:G:T	F332L	0.993
19:38737610:A:G	F332L	0.993
19:38738274:A:G	W322R	0.993
19:38738274:A:T	W322R	0.993
19:38738438:C:A	W290C	0.993
19:38738438:C:G	W290C	0.993
19:38737591:C:T	C338Y	0.992
19:38738337:A:G	W301R	0.992
19:38738337:A:T	W301R	0.992
19:38738276:A:G	F321S	0.991
19:38738597:A:C	Y261D	0.991
19:38738597:A:G	Y261H	0.990
19:38743943:A:G	W75R	0.990
19:38743943:A:T	W75R	0.990
19:38737621:A:G	F328S	0.989
19:38738463:C:G	R282P	0.989

dbSNP variants (sampled 300 via entrez): RS1000857471 (19:38736112 G>A,C,T), RS1001001659 (19:38745297 G>A), RS1001224188 (19:38742644 G>C), RS1001236862 (19:38735282 A>G), RS1001679661 (19:38732013 A>C), RS1001914346 (19:38735557 G>T), RS1002016641 (19:38733113 T>C), RS1002302451 (19:38731815 C>G), RS1002528764 (19:38744943 T>C), RS1002665962 (19:38744828 T>C,G), RS1002689776 (19:38734773 G>A), RS1003117185 (19:38739558 C>T), RS1003176478 (19:38739508 G>A), RS1003238298 (19:38745802 C>T), RS1003249375 (19:38738023 T>C)

Disease associations

OMIM: gene MIM:608839 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability	Disputed Evidence	Autosomal recessive

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

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST006999_4	Logical memory (immediate recall) in mild cognitive impairment	4.000000e-07
GCST010703_256	Brain morphology (MOSTest)	8.000000e-14
GCST90002400_285	Plateletcrit	2.000000e-16
GCST90002401_265	Platelet distribution width	3.000000e-15
GCST90002402_562	Platelet count	2.000000e-28

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance
EFO:0004346	neuroimaging measurement
EFO:0007985	platelet crit
EFO:0007984	platelet component distribution width
EFO:0004309	platelet count

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

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
Aflatoxin B1	decreases methylation, decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
sotorasib	decreases expression, affects cotreatment	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
pyrazolo(3,4-d)pyrimidine	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	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
Air Pollutants	increases abundance, decreases expression	1
Calcitriol	increases expression, affects cotreatment	1
Carbamazepine	affects expression	1
Doxorubicin	increases expression	1
Mustard Gas	increases expression	1
Pesticides	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	affects expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	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