SYPL1

Summary

SYPL1 (synaptophysin like 1, HGNC:11507) is a protein-coding gene on chromosome 7q22.3, encoding Synaptophysin-like protein 1 (Q16563).

Predicted to be involved in chemical synaptic transmission. Located in extracellular exosome.

Source: NCBI Gene 6856 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 44 total
• Druggable target: yes
• MANE Select transcript: NM_182715

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11507
Approved symbol	SYPL1
Name	synaptophysin like 1
Location	7q22.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000008282
Ensembl biotype	protein_coding
OMIM	616665
Entrez	6856

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000011473, ENST00000455385, ENST00000460770, ENST00000464029, ENST00000470347, ENST00000483448, ENST00000634737, ENST00000706297, ENST00000706298, ENST00000706299, ENST00000895750

RefSeq mRNA: 11 — MANE Select: NM_182715 NM_001381910, NM_001381911, NM_001381912, NM_001381913, NM_001381917, NM_001381918, NM_001381919, NM_001381920, NM_001381921, NM_006754, NM_182715

CCDS: CCDS47685, CCDS5736, CCDS94173, CCDS94174, CCDS94175

Canonical transcript exons

ENST00000455385 — 5 exons

Exon	Start	End
ENSE00000714603	106099158	106099282
ENSE00000714609	106097690	106097897
ENSE00000714615	106092949	106093137
ENSE00001666890	106112140	106112312
ENSE00001946984	106090505	106091939

Expression profiles

Bgee: expression breadth ubiquitous, 301 present calls, max score 99.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 58.4089 / max 376.7165, expressed in 1820 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85465	56.6209	1818
85467	0.7910	361
85464	0.6062	334
85466	0.3909	171

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelium of nasopharynx	UBERON:0001951	99.12	gold quality
nasopharynx	UBERON:0001728	99.10	gold quality
esophagus squamous epithelium	UBERON:0006920	99.08	gold quality
endometrium epithelium	UBERON:0004811	99.05	gold quality
epithelium of esophagus	UBERON:0001976	98.75	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.64	gold quality
adult organism	UBERON:0007023	98.56	gold quality
germinal epithelium of ovary	UBERON:0001304	98.52	gold quality
spinal cord	UBERON:0002240	98.50	gold quality
mucosa of paranasal sinus	UBERON:0005030	98.37	gold quality
esophagus mucosa	UBERON:0002469	98.32	gold quality
tongue squamous epithelium	UBERON:0006919	98.10	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.00	gold quality
parotid gland	UBERON:0001831	97.96	gold quality
gingival epithelium	UBERON:0001949	97.94	gold quality
saliva-secreting gland	UBERON:0001044	97.93	gold quality
squamous epithelium	UBERON:0006914	97.93	gold quality
gingiva	UBERON:0001828	97.86	gold quality
minor salivary gland	UBERON:0001830	97.84	gold quality
lower esophagus mucosa	UBERON:0035834	97.81	gold quality
mouth mucosa	UBERON:0003729	97.80	gold quality
pharyngeal mucosa	UBERON:0000355	97.76	gold quality
oral cavity	UBERON:0000167	97.72	gold quality
vagina	UBERON:0000996	97.70	gold quality
tonsil	UBERON:0002372	97.70	gold quality
ectocervix	UBERON:0012249	97.68	gold quality
esophagus	UBERON:0001043	97.62	gold quality
palpebral conjunctiva	UBERON:0001812	97.61	gold quality
gall bladder	UBERON:0002110	97.56	gold quality
body of uterus	UBERON:0009853	97.50	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	421.27
E-HCAD-4	yes	75.93
E-MTAB-10042	yes	10.84
E-CURD-46	yes	9.33
E-HCAD-6	no	28.66
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 4)

• A role is found for synaptophysin I in the enduring neuroplasticity in the prefrontal cortical glutamate circuitry that is associated with ethanol dependence. (PMID:18720419)
• SYPL1 overexpression predicts poor prognosis of HCC. (PMID:28731154)
• Serum SYPL1 is a promising diagnostic biomarker for colorectal cancer. (PMID:32502495)
• Evaluation of fecal SYPL1 as a diagnostic biomarker in colorectal cancer. (PMID:35218739)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sypl1	ENSDARG00000077356
mus_musculus	Sypl1	ENSMUSG00000020570
rattus_norvegicus	Sypl1	ENSRNOG00000009856
caenorhabditis_elegans		WBGENE00004979

Paralogs (3): SYP (ENSG00000102003), SYPL2 (ENSG00000143028), SYNPR (ENSG00000163630)

Protein

Protein identifiers

Synaptophysin-like protein 1 — Q16563 (reviewed: Q16563)

Alternative names: Pantophysin

All UniProt accessions (8): Q16563, A0A0U1RQT9, A0A994J5J4, A0A994J5W6, A0A994J846, A4D0R1, C9JYN0, H7C4J8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasmic vesicle membrane. Melanosome.

Similarity. Belongs to the synaptophysin/synaptobrevin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q16563-1	1	yes
Q16563-2	2

RefSeq proteins (11): NP_001368839, NP_001368840, NP_001368841, NP_001368842, NP_001368846, NP_001368847, NP_001368848, NP_001368849, NP_001368850, NP_006745, NP_874384* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001285	Synaptophysin/porin	Family
IPR008253	Marvel	Domain

Pfam: PF01284

UniProt features (17 total): topological domain 5, transmembrane region 4, glycosylation site 2, sequence conflict 2, chain 1, domain 1, splice variant 1, initiator methionine 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16563-F1	83.01	0.49

Functional residue map

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

Glycosylation sites (2): 71, 212

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 306 (showing top): MORF_MBD4, MORF_RAB5A, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOCC_SECRETORY_GRANULE, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, ROVERSI_GLIOMA_COPY_NUMBER_UP, MORF_HDAC1, MORF_RAD21, MORF_PSMC2, GOBP_CELL_CELL_SIGNALING, GOLDRATH_ANTIGEN_RESPONSE, PATIL_LIVER_CANCER, GTGCCTT_MIR506, MORF_SKP1A, MODULE_239

GO Biological Process (1): chemical synaptic transmission (GO:0007268)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (9): plasma membrane (GO:0005886), membrane (GO:0016020), secretory granule (GO:0030141), synaptic vesicle membrane (GO:0030672), melanosome (GO:0042470), extracellular exosome (GO:0070062), synaptic vesicle (GO:0008021), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
anterograde trans-synaptic signaling	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1
endomembrane system	1
secretory vesicle	1
synaptic vesicle	1
exocytic vesicle membrane	1
pigment granule	1
extracellular vesicle	1
exocytic vesicle	1
presynapse	1
vesicle membrane	1
cytoplasmic vesicle	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

748 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SYPL1	GTF2F1	P35269	646
SYPL1	GRIP2	Q9C0E4	639
SYPL1	MYO9B	Q13459	525
SYPL1	RUSC2	Q8N2Y8	489
SYPL1	AKAP6	Q13023	477
SYPL1	ZNF668	Q96K58	474
SYPL1	RABGAP1	Q9Y3P9	474
SYPL1	COPZ1	P61923	440
SYPL1	GFAP	P14136	433
SYPL1	PTPN2	P17706	427
SYPL1	CTXN1	P60606	413
SYPL1	MOB1A	Q9H8S9	410
SYPL1	EEF1A1	P04719	405
SYPL1	MAP1B	P46821	387
SYPL1	TUBGCP2	Q9BSJ2	382

IntAct

52 interactions, top by confidence:

A	B	Type	Score
SLC17A5	LGALS8	psi-mi:“MI:0914”(association)	0.640
ALG3	SYPL1	psi-mi:“MI:0915”(physical association)	0.580
PBX3	SYPL1	psi-mi:“MI:0915”(physical association)	0.560
SDCBP	SYPL1	psi-mi:“MI:0915”(physical association)	0.560
SYPL1	CIB3	psi-mi:“MI:0915”(physical association)	0.560
SYPL1	ARFGAP3	psi-mi:“MI:0915”(physical association)	0.560
SYPL1	RBFA	psi-mi:“MI:0915”(physical association)	0.560
SYPL1	TEX44	psi-mi:“MI:0915”(physical association)	0.560
SYPL1	TARS2	psi-mi:“MI:0915”(physical association)	0.560
SYPL1	PBX3	psi-mi:“MI:0915”(physical association)	0.560
PPIF	SYPL1	psi-mi:“MI:0915”(physical association)	0.560
MCAM	LGALS8	psi-mi:“MI:0914”(association)	0.530
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
TEX101	PSMD12	psi-mi:“MI:0914”(association)	0.350
TEX101	NDUFA4	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
NCAPD3	NDUFS8	psi-mi:“MI:0914”(association)	0.350
	NPC1	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
VAMP2	SNAP23	psi-mi:“MI:0914”(association)	0.350
VAMP3	SCAMP1	psi-mi:“MI:0914”(association)	0.350
SYPL1	LGALS3	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350
MFSD8	STXBP3	psi-mi:“MI:0914”(association)	0.350
SLC16A10	STXBP3	psi-mi:“MI:0914”(association)	0.350
SLC19A1	TAPBP	psi-mi:“MI:0914”(association)	0.350
SLC19A3	SNAP23	psi-mi:“MI:0914”(association)	0.350

BioGRID (60): SYPL1 (Synthetic Lethality), VAMP8 (Affinity Capture-MS), VAMP3 (Affinity Capture-MS), VAMP2 (Affinity Capture-MS), LGALS3 (Affinity Capture-MS), SYPL1 (Affinity Capture-MS), SYPL1 (Two-hybrid), SYPL1 (Affinity Capture-MS), SYPL1 (Synthetic Lethality), TOMM22 (Co-fractionation), SYPL1 (Affinity Capture-MS), RBFA (Two-hybrid), PPIF (Two-hybrid), SDCBP (Two-hybrid), CIB3 (Two-hybrid)

ESM2 similar proteins: A2VE13, A4K2N5, A4K2W1, B8BPI2, E1BY51, O09117, O09198, O35682, O62646, O88662, O89104, P21145, Q04941, Q10EJ2, Q16563, Q1RMQ3, Q28296, Q3URJ8, Q3ZBY0, Q5R6H1, Q5RAI2, Q5VXT5, Q64349, Q6DHB5, Q6GPN9, Q6P0C6, Q6P742, Q6VBQ5, Q6Y1E2, Q78S06, Q86TG1, Q86UW1, Q8BI08, Q8CJ61, Q8IZ96, Q8IZR5, Q8N2H4, Q8N8D7, Q91WN2, Q95MN6

Diamond homologs: O09117, O62646, O89104, P07825, P08247, P20488, P22831, Q16563, Q5VXT5, Q5YJC1, Q62277, Q8BGN8, Q8TBG9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 46 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
ER-Phagosome pathway	5	20.9×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

788 predictions. Top by Δscore:

Variant	Effect	Δscore
7:106091937:TAT:T	acceptor_gain	1.0000
7:106091940:C:CC	acceptor_gain	1.0000
7:106091942:A:C	acceptor_gain	1.0000
7:106092948:CCA:C	donor_gain	1.0000
7:106093103:C:CT	acceptor_gain	1.0000
7:106093137:CCTAA:C	acceptor_loss	1.0000
7:106093138:C:A	acceptor_loss	1.0000
7:106093139:T:A	acceptor_loss	1.0000
7:106097684:A:AC	donor_gain	1.0000
7:106097685:C:CC	donor_gain	1.0000
7:106097686:TTA:T	donor_loss	1.0000
7:106097687:TA:T	donor_loss	1.0000
7:106097688:A:AC	donor_gain	1.0000
7:106097688:AC:A	donor_loss	1.0000
7:106097688:ACTAT:A	donor_gain	1.0000
7:106097689:C:CA	donor_gain	1.0000
7:106097689:CT:C	donor_gain	1.0000
7:106097689:CTA:C	donor_gain	1.0000
7:106097689:CTAT:C	donor_gain	1.0000
7:106097689:CTATC:C	donor_gain	1.0000
7:106099153:CTCA:C	donor_loss	1.0000
7:106099154:TCA:T	donor_loss	1.0000
7:106099155:CA:C	donor_loss	1.0000
7:106099157:C:CG	donor_loss	1.0000
7:106099278:GCAAT:G	acceptor_gain	1.0000
7:106099279:CAAT:C	acceptor_gain	1.0000
7:106099279:CAATC:C	acceptor_gain	1.0000
7:106099280:AAT:A	acceptor_gain	1.0000
7:106099281:AT:A	acceptor_gain	1.0000
7:106099282:TCTAC:T	acceptor_loss	1.0000

AlphaMissense

1577 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:106091892:A:C	F231L	0.998
7:106091892:A:T	F231L	0.998
7:106091894:A:G	F231L	0.998
7:106093083:A:G	W171R	0.998
7:106093083:A:T	W171R	0.998
7:106093093:G:C	S167R	0.998
7:106093093:G:T	S167R	0.998
7:106093095:T:G	S167R	0.998
7:106093104:A:G	W164R	0.998
7:106093104:A:T	W164R	0.998
7:106091883:C:A	K234N	0.997
7:106091883:C:G	K234N	0.997
7:106091912:A:G	W225R	0.997
7:106091912:A:T	W225R	0.997
7:106091932:C:T	G218D	0.997
7:106091933:C:G	G218R	0.997
7:106099160:G:C	F82L	0.997
7:106099160:G:T	F82L	0.997
7:106099162:A:G	F82L	0.997
7:106099262:A:C	F48L	0.997
7:106099262:A:T	F48L	0.997
7:106099264:A:G	F48L	0.997
7:106091897:A:G	W230R	0.996
7:106091897:A:T	W230R	0.996
7:106093081:C:A	W171C	0.996
7:106093081:C:G	W171C	0.996
7:106099244:A:C	F54L	0.996
7:106099244:A:T	F54L	0.996
7:106099246:A:G	F54L	0.996
7:106112152:C:A	K37N	0.996

dbSNP variants (sampled 300 via entrez): RS1000016267 (7:106094508 C>T), RS1000316860 (7:106096923 TA>T,TAA), RS1000618625 (7:106095645 C>A,T), RS1000691068 (7:106096079 A>T), RS1000844049 (7:106109129 C>G), RS1000989652 (7:106102784 T>A), RS1001112980 (7:106102039 G>A), RS1001172942 (7:106108272 T>G), RS1001233880 (7:106103097 T>C), RS1001288856 (7:106107957 G>A), RS1001457546 (7:106091467 G>A), RS1001472324 (7:106114022 C>G,T), RS1001724829 (7:106098561 T>C,G), RS1001781831 (7:106104999 G>A), RS1001800013 (7:106114252 G>T)

Disease associations

OMIM: gene MIM:616665 | 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

0 associations (top):

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: yes

ChEMBL targets (1): CHEMBL6067066 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.29	Kd	51.77	nM	CHEMBL5653589
7.27	ED50	53.55	nM	CHEMBL5653589
5.21	Kd	6213	nM	CHEMBL3752910
5.19	ED50	6427	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 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.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149535: Binding affinity to human SYPL1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0518	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149535: Binding affinity to human SYPL1 incubated for 45 mins by Kinobead based pull down assay	kd	6.2129	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases expression, decreases expression, increases abundance	3
Arsenic	increases abundance, increases expression, affects methylation, affects cotreatment	2
Valproic Acid	affects expression, decreases expression, decreases methylation	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects localization, affects cotreatment, increases expression	1
zinc chromate	increases abundance, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
deguelin	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
abrine	increases expression	1
pyrachlostrobin	increases expression	1
picoxystrobin	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Furaldehyde	affects cotreatment, increases expression, affects localization, decreases expression	1
Gallic Acid	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Methyl Methanesulfonate	decreases expression	1
Rotenone	increases expression	1
Sodium Chloride	affects cotreatment, affects localization, decreases expression, increases expression	1
Testosterone	decreases expression	1
Thiram	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652577	Binding	Binding affinity to human SYPL1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

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
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