FAM177A1

gene
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Summary

FAM177A1 (family with sequence similarity 177 member A1, HGNC:19829) is a protein-coding gene on chromosome 14q13.2, encoding Protein FAM177A1 (Q8N128).

This gene encodes a member of a conserved protein family. Alternative splicing results in multiple transcript variants. This gene is thought to be associated with susceptibility to juvenile idiopathic arthritis.

Source: NCBI Gene 283635 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): Mendelian neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
  • GWAS associations: 10
  • Clinical variants (ClinVar): 71 total — 6 pathogenic, 3 likely-pathogenic
  • Phenotypes (HPO): 44
  • MANE Select transcript: NM_173607

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:19829
Approved symbolFAM177A1
Namefamily with sequence similarity 177 member A1
Location14q13.2
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000151327
Ensembl biotypeprotein_coding
OMIM619181
Entrez283635

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 7 protein_coding, 7 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000280987, ENST00000382406, ENST00000553852, ENST00000553901, ENST00000553955, ENST00000554052, ENST00000554794, ENST00000555211, ENST00000555260, ENST00000556858, ENST00000699514, ENST00000699515, ENST00000699516, ENST00000699517, ENST00000871849, ENST00000927548

RefSeq mRNA: 3 — MANE Select: NM_173607 NM_001079519, NM_001289022, NM_173607

CCDS: CCDS41944, CCDS9653

Canonical transcript exons

ENST00000280987 — 5 exons

ExonStartEnd
ENSE000024472283505327835053451
ENSE000039767983507892735079024
ENSE000039768073508102235083378
ENSE000039768083507715035077216
ENSE000039768103504627235046628

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 97.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 65.4670 / max 698.0613, expressed in 1821 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter IDTPM avgSamples expressed
13920027.66951819
13919916.63821786
1392028.11721754
1392055.65161528
1392035.08761543
1392011.4003944
1392040.4883234
1392060.2697103
1391980.128454
1391970.01619

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370197.87gold quality
left ventricle myocardiumUBERON:000656697.55gold quality
left testisUBERON:000453397.35gold quality
right testisUBERON:000453497.29gold quality
corpus callosumUBERON:000233697.05gold quality
C1 segment of cervical spinal cordUBERON:000646997.04gold quality
mucosa of transverse colonUBERON:000499197.00gold quality
rectumUBERON:000105296.98gold quality
right lungUBERON:000216796.88gold quality
spinal cordUBERON:000224096.79gold quality
transverse colonUBERON:000115796.27gold quality
upper lobe of left lungUBERON:000895296.20gold quality
upper lobe of lungUBERON:000894896.15gold quality
myocardiumUBERON:000234996.07gold quality
cortical plateUBERON:000534396.06gold quality
right coronary arteryUBERON:000162596.04gold quality
substantia nigraUBERON:000203895.96gold quality
popliteal arteryUBERON:000225095.96gold quality
tibial arteryUBERON:000761095.95gold quality
ascending aortaUBERON:000149695.92gold quality
aortaUBERON:000094795.91gold quality
thoracic aortaUBERON:000151595.91gold quality
endothelial cellCL:000011595.90gold quality
islet of LangerhansUBERON:000000695.85gold quality
heart left ventricleUBERON:000208495.80gold quality
hypothalamusUBERON:000189895.79gold quality
lower lobe of lungUBERON:000894995.71gold quality
descending thoracic aortaUBERON:000234595.70gold quality
epithelial cell of pancreasCL:000008395.69gold quality
cardiac ventricleUBERON:000208295.68gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 10.

ExperimentMarker?Max mean expression
E-CURD-120yes1033.10
E-MTAB-10287yes35.99
E-GEOD-135922yes23.46
E-CURD-122yes22.22
E-MTAB-6701yes20.13
E-CURD-46yes19.93
E-ANND-3yes19.63
E-CURD-88yes16.40
E-HCAD-10yes7.73
E-MTAB-6678yes5.02
E-MTAB-7606no365.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

100 targeting FAM177A1, 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-6867-5P100.0082.213464
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-8485100.0077.574731
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-340-5P100.0072.504437
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-5692A100.0074.406850
HSA-MIR-186-5P99.9970.833707
HSA-MIR-428299.9975.366408
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-480399.9871.993117
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-570-3P99.9672.414910
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-391099.9571.132227
HSA-MIR-128-3P99.9571.172484
HSA-MIR-216A-3P99.9571.192505
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-101-3P99.9475.032230
HSA-MIR-548AE-3P99.9372.664867
HSA-MIR-548AH-3P99.9372.544872
HSA-MIR-548AM-3P99.9372.544872
HSA-MIR-548AQ-3P99.9372.664867
HSA-MIR-314399.9371.963104
HSA-MIR-381-3P99.9371.872854
HSA-MIR-311999.9271.342390
HSA-MIR-30099.9271.762856

Literature-anchored findings (GeneRIF, showing 3)

  • Remarkable repression of c14orf24 by miR124a was detected during neurogenesis. (PMID:19663910)
  • FAM177A1 Inhibits IL-1beta-Induced Signaling by Impairing TRAF6-Ubc13 Association. (PMID:34799425)
  • Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder. (PMID:38767059)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_reriofam177a1ENSDARG00000079636
danio_rerioFAM177A1ENSDARG00000100439
mus_musculusFam177a2ENSMUSG00000094103
mus_musculusFam177aENSMUSG00000095595
rattus_norvegicusFam177a1ENSRNOG00000064975
drosophila_melanogasterCG8300FBGN0029937

Paralogs (1): FAM177B (ENSG00000197520)

Protein

Protein identifiers

Protein FAM177A1Q8N128 (reviewed: Q8N128)

All UniProt accessions (9): A0A087X212, A0A1Y8EH40, A0A8V8TNB7, Q8N128, G3V3Z5, G3V583, H0YJC3, H0YJX7, R4GN97

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Golgi apparatus.

Disease relevance. Neurodevelopmental disorder with white matter abnormalities and gait disturbance (NEDWMG) [MIM:621152] An autosomal recessive disorder characterized by macrocephaly, global developmental delay, intellectual disability, seizures, behavioral abnormalities, hypotonia, and gait disturbance. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the FAM177 family.

Isoforms (2)

UniProt IDNamesCanonical?
Q8N128-11yes
Q8N128-22

RefSeq proteins (3): NP_001072987, NP_001275951, NP_775878* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR028260FAM177Family

Pfam: PF14774

UniProt features (13 total): sequence conflict 4, modified residue 3, chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8N128-F164.640.01

Functional residue map

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

Post-translational modifications (3): 1, 70, 71

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 94 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GTGCCTT_MIR506, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, COATES_MACROPHAGE_M1_VS_M2_DN, TGCCTTA_MIR124A, chr14q13, KATSANOU_ELAVL1_TARGETS_UP, STK33_SKM_UP, STK33_UP, FOXN3_TARGET_GENES, SKIL_TARGET_GENES, SNRNP70_TARGET_GENES, SRSF9_TARGET_GENES, ZNF202_TARGET_GENES, ZNF22_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (1): Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

422 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
FAM177A1KRTAP13-4Q3LI77506
FAM177A1C19orf18Q8NEA5447
FAM177A1MED29Q9NX70431
FAM177A1FAM222BQ8WU58430
FAM177A1DEPDC7Q96QD5426
FAM177A1TCAIMQ8N3R3402
FAM177A1C1GALT1C1LP0DN25392
FAM177A1SSC4DQ8WTU2389
FAM177A1ZNF572Q7Z3I7382
FAM177A1ARL6IP6Q8N6S5374
FAM177A1CLHC1Q8NHS4371
FAM177A1FAM120AOSQ5T036370
FAM177A1WDR93Q6P2C0368
FAM177A1PRORPO15091368
FAM177A1NAA16Q6N069359

IntAct

16 interactions, top by confidence:

ABTypeScore
FAM177A1SLC27A2psi-mi:“MI:0914”(association)0.530
FAM177A1psi-mi:“MI:0915”(physical association)0.370
Rcc1WDR46psi-mi:“MI:0914”(association)0.350
MRPS31psi-mi:“MI:0914”(association)0.350
RHOJPRKCIpsi-mi:“MI:0914”(association)0.350
DYRK1ATEX13Dpsi-mi:“MI:0914”(association)0.350
TMPRSS13TOR1Apsi-mi:“MI:0914”(association)0.350
FAM177A1LORICRINpsi-mi:“MI:0914”(association)0.350
SLC44A1UPK3BL1psi-mi:“MI:0914”(association)0.350
SLC44A2CLGNpsi-mi:“MI:0914”(association)0.350
SLC44A3CLGNpsi-mi:“MI:0914”(association)0.350
STK38LSH3PXD2Bpsi-mi:“MI:2364”(proximity)0.270

BioGRID (106): FAM177A1 (Affinity Capture-MS), FAM204A (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), C1orf27 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), STEAP3 (Affinity Capture-MS), AAGAB (Affinity Capture-MS), SLC4A1AP (Affinity Capture-MS), FAM207A (Affinity Capture-MS), SAR1B (Affinity Capture-MS), TGS1 (Affinity Capture-MS), ARMCX3 (Affinity Capture-MS), DHX38 (Affinity Capture-MS)

ESM2 similar proteins: A2AFR3, A6QLZ5, O08838, O94888, O95983, P0C6S7, P21580, P49418, P50478, Q05B58, Q08DU8, Q14161, Q14CM0, Q1RMZ1, Q32KN2, Q3KR37, Q3ZK22, Q497H0, Q5E948, Q5RD48, Q5REE1, Q5REY7, Q5RFL7, Q5U2M7, Q5UAK0, Q5ZIA0, Q5ZKA4, Q60769, Q66H91, Q6DC60, Q6ZPY2, Q7TQF7, Q7Z6G8, Q8BIZ1, Q8BR63, Q8BXK4, Q8IW50, Q8N108, Q8N128, Q8R3V6

Diamond homologs: A6PVY3, A6QLZ5, Q8BR63, Q8N128

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic6
Likely pathogenic3
Uncertain significance42
Likely benign6
Benign0

Top pathogenic / likely-pathogenic (9)

Variant IDHGVSClassification
1686831NM_173607.5(FAM177A1):c.366_367dup (p.Trp123fs)Pathogenic
3775083FAM177A1, 8-KB DELPathogenic
3775084FAM177A1, 9.7-KB DELPathogenic
3775085FAM177A1, EX3DELPathogenic
3775086NM_173607.5(FAM177A1):c.268G>T (p.Glu90Ter)Pathogenic
3775087NM_173607.5(FAM177A1):c.209_210del (p.Ile70fs)Pathogenic
183348NM_173607.5(FAM177A1):c.366dup (p.Trp123fs)Likely pathogenic
870577NC_000014.9:g.35077780_35087566delLikely pathogenic
870589NC_000014.9:g.35044389_35052476delLikely pathogenic

SpliceAI

2301 predictions. Top by Δscore:

VariantEffectΔscore
14:35048726:G:Tdonor_gain1.0000
14:35053277:GATGA:Gacceptor_gain1.0000
14:35053450:CGG:Cdonor_loss1.0000
14:35053452:G:Cdonor_loss1.0000
14:35053453:T:Adonor_loss1.0000
14:35078919:A:AGacceptor_gain1.0000
14:35078920:T:Gacceptor_gain1.0000
14:35078924:CAGT:Cacceptor_loss1.0000
14:35078925:A:AGacceptor_gain1.0000
14:35078925:AGT:Aacceptor_gain1.0000
14:35078925:AGTGT:Aacceptor_gain1.0000
14:35078926:G:GTacceptor_gain1.0000
14:35078926:GT:Gacceptor_gain1.0000
14:35078926:GTG:Gacceptor_gain1.0000
14:35078926:GTGT:Gacceptor_gain1.0000
14:35078926:GTGTG:Gacceptor_gain1.0000
14:35079021:GGAG:Gdonor_gain1.0000
14:35079022:G:GTdonor_gain1.0000
14:35079022:GAG:Gdonor_gain1.0000
14:35079023:AGGT:Adonor_loss1.0000
14:35079024:GGTA:Gdonor_loss1.0000
14:35079025:G:GGdonor_gain1.0000
14:35079025:GTAT:Gdonor_loss1.0000
14:35081016:TTTTA:Tacceptor_loss1.0000
14:35081017:TTTAG:Tacceptor_loss1.0000
14:35081019:TAGG:Tacceptor_loss1.0000
14:35081020:A:AGacceptor_gain1.0000
14:35081021:G:GTacceptor_gain1.0000
14:35081021:GGAA:Gacceptor_gain1.0000
14:35085774:TCATC:Tacceptor_gain1.0000

AlphaMissense

1557 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:35077199:C:AA107D1.000
14:35053359:T:CF60L0.999
14:35053361:T:AF60L0.999
14:35053361:T:GF60L0.999
14:35077198:G:CA107P0.999
14:35078929:T:CC114R0.999
14:35078941:G:AG118R0.999
14:35078941:G:CG118R0.999
14:35078942:G:AG118E0.999
14:35078982:G:CK131N0.999
14:35078982:G:TK131N0.999
14:35078983:T:CY132H0.999
14:35078993:C:AA135D0.999
14:35079011:G:CR141P0.999
14:35053360:T:CF60S0.998
14:35077162:T:AW95R0.998
14:35077162:T:CW95R0.998
14:35077196:C:AA106D0.998
14:35078930:G:AC114Y0.998
14:35078983:T:GY132D0.998
14:35078984:A:CY132S0.998
14:35078984:A:GY132C0.998
14:35078996:T:AI136N0.998
14:35053354:T:GI58S0.997
14:35053369:G:TG63V0.997
14:35053389:A:CS70R0.997
14:35053391:C:AS70R0.997
14:35053391:C:GS70R0.997
14:35078933:A:CD115A0.997
14:35078939:T:CL117P0.997

dbSNP variants (sampled 300 via entrez): RS1000023907 (14:35044751 G>A), RS1000071847 (14:35077725 A>C,G), RS1000092159 (14:35061064 G>A,C), RS1000157214 (14:35043161 C>T), RS1000173638 (14:35067776 T>A,G), RS1000194474 (14:35059760 G>T), RS1000286709 (14:35048842 G>A), RS1000352768 (14:35073306 G>A), RS1000444491 (14:35049031 C>G,T), RS1000509571 (14:35044423 C>G,T), RS1000614270 (14:35050154 G>A,C), RS1000678965 (14:35061500 A>G,T), RS1000725771 (14:35073747 C>G), RS1000861402 (14:35056504 T>A,G), RS1000918960 (14:35067407 C>T)

Disease associations

OMIM: gene MIM:619181 | disease phenotypes: MIM:621152

GenCC curated gene-disease

DiseaseClassificationInheritance
Mendelian neurodevelopmental disorderStrongAutosomal recessive
complex neurodevelopmental disorderModerateAutosomal recessive

Mondo (4): intellectual disability (MONDO:0001071), neurodevelopmental disorder with white matter abnormalities and gait disturbance (MONDO:0976264), complex neurodevelopmental disorder (MONDO:0100038), Mendelian neurodevelopmental disorder (MONDO:0100500)

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

HPO phenotypes

44 total (30 of 44 shown, HPO-id order):

HPOTerm
HP:0000007Autosomal recessive inheritance
HP:0000256Macrocephaly
HP:0000268Dolichocephaly
HP:0000490Deeply set eye
HP:0000519Developmental cataract
HP:0000540Hypermetropia
HP:0000565Esotropia
HP:0000582Upslanted palpebral fissure
HP:0000646Amblyopia
HP:0000712Emotional lability
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000737Irritability
HP:0000739Anxiety
HP:0000744Low frustration tolerance
HP:0000750Delayed speech and language development
HP:0000752Hyperactivity
HP:0000954Single transverse palmar crease
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001347Hyperreflexia
HP:0001631Atrial septal defect
HP:0001763Pes planus
HP:0001864Clinodactyly of the 5th toe
HP:0001999Abnormal facial shape
HP:0002007Frontal bossing

GWAS associations

10 associations (top):

StudyTraitp-value
GCST004609_210Monocyte percentage of white cells1.000000e-10
GCST004627_152Lymphocyte count8.000000e-13
GCST005081_8Bipolar disorder lithium response (continuous) or schizophrenia2.000000e-08
GCST005856_1Colorectal carcinoma in primary sclerosing cholangitis7.000000e-07
GCST006491_3Circulating fibroblast growth factor 23 levels5.000000e-06
GCST006585_1903Blood protein levels2.000000e-83
GCST90002388_131Lymphocyte count9.000000e-21
GCST90002394_480Monocyte percentage of white cells1.000000e-19
GCST90002399_354Neutrophil percentage of white cells1.000000e-13
GCST90020026_231Hip index5.000000e-09

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0007989monocyte percentage of leukocytes
EFO:0004587lymphocyte count
EFO:0007990neutrophil percentage of leukocytes
EFO:0008039BMI-adjusted hip circumference

MeSH disease descriptors (1)

DescriptorNameTree numbers
D008607Intellectual DisabilityC10.597.606.360; 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)

PharmGKB clinical annotations

1 annotations.

VariantTypeLevelDrugsPhenotypes
rs79403677Efficacy3lithiumBipolar Disorder

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs79403677FAM177A130.001lithium

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneincreases expression, decreases methylation3
sodium arsenitedecreases expression, increases abundance, increases expression2
Valproic Acidincreases expression, affects expression2
FR900359increases phosphorylation1
triphenyl phosphateaffects expression1
beta-lapachoneincreases expression1
butyraldehydeincreases expression1
potassium chromate(VI)decreases expression1
coumarinincreases phosphorylation1
di-n-butylphosphoric acidaffects expression1
chloropicrinaffects expression1
Air Pollutantsdecreases expression, increases abundance1
Arsenicdecreases expression, increases abundance1
Caffeineincreases phosphorylation1
Diethylhexyl Phthalatedecreases expression1
Ivermectindecreases expression1
Methyl Methanesulfonateincreases expression1
Quercetindecreases expression1
Rotenoneincreases expression1
Tobacco Smoke Pollutionaffects expression1
Cadmium Chlorideincreases expression1
Copper Sulfateincreases expression1
Particulate Matterdecreases expression, increases abundance1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

CellosaurusNameCategorySex
CVCL_E1HSHeLa M FAM177A1-KOCancer cell lineFemale
CVCL_E1HTHeLa M FAM117A1/VPS13B-DKOCancer cell lineFemale

Clinical trials (associated diseases)

199 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)
NCT06310681Not specifiedCOMPLETEDPilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049Not specifiedNOT_YET_RECRUITINGCognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
NCT03479476PHASE2/PHASE3COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796PHASE1/PHASE2COMPLETEDEffects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672EARLY_PHASE1RECRUITINGClinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948Not specifiedCOMPLETEDHealthy Lifestyles for People With Intellectual Disabilities
NCT01087320Not specifiedRECRUITINGGenome Medical Sequencing for Gene Discovery
NCT01652963Not specifiedUNKNOWNPicture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395Not specifiedCOMPLETEDMental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
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