Summary
Lewy body dementia (MONDO:0007488) is a disease caused by SNCA (GenCC Strong), with 19 cohort genes (130 GWAS associations across 20 studies) and 204 clinical trials. Top therapeutic interventions include donepezil, memantine, and rivastigmine.
At a glance
- Causal gene: SNCA (GenCC Strong)
- Cohort genes: 19
- GWAS associations: 130
- ClinVar variants: 126
- Clinical trials: 204
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|
| Canonical name | Lewy body dementia |
| Mondo ID | MONDO:0007488 |
| EFO | EFO:0006792 |
| OMIM | 127750 |
| Orphanet | 1648 |
| DOID | DOID:12217 |
| ICD-10-CM | G31.83 |
| NCIT | C84826 |
| SNOMED CT | 312991009 |
| UMLS | C0752347 |
| MedGen | 199874 |
| Is cancer (heuristic) | no |
Also known as: cortical Lewy body disease · dementia with Lewy bodies · dementia, Lewy body · DLB · Lewy body dementia · lewy body dementia, susceptibility to · Lewy body disease
Data availability: 126 ClinVar variants · 130 GWAS associations (20 studies) · 4 GenCC gene-disease records · 44 cell lines.
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › neurodegenerative disease › synucleinopathy › Lewy body dementia
Related subtypes (1): multiple system atrophy
Genetics & variants
GWAS landscape
130 GWAS associations across 20 studies. Top hits map to 32 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|
| rs157595 | 4e-145 | APOC1 - APOC1P1 | A | 25.65 |
| rs769449 | 3e-101 | APOE | A | 2.32 |
| rs429358 | 3e-64 | APOE | C | 2.46 |
| rs6733839 | 2e-31 | BIN1 - NIFKP9 | T | 11.68 |
| rs34311866 | 1e-27 | TMEM175 | C | 10.89 |
| rs1372518 | 3e-26 | SNCA | A | 10.61 |
| rs2532307 | 4e-26 | KANSL1 | A | 10.58 |
| rs35603727 | 2e-21 | UBQLN4 | A | 9.49 |
| rs7680557 | 3e-17 | SNCA-AS1 | C | 0.76 |
| rs2230288 | 5e-16 | GBA1 | T | 2.01 |
| rs1532278 | 6e-14 | CLU | T | 7.5 |
| rs7185007 | 6e-14 | CTF2P - FBXL19-AS1 | T | 7.51 |
| rs7681440 | 9e-13 | SNCA | ? | 1.37 |
| rs10513789 | 1e-12 | MCCC1 | G | 7.08 |
| rs111789331 | 7e-12 | APOC1 - APOC1P1 | A | 2.59 |
| rs4663105 | 7e-12 | BIN1 - NIFKP9 | A | 0.82 |
| rs894280 | 2e-11 | SNCA-AS1 | T | 1.22 |
| rs1474055 | 3e-10 | STK39 - RN7SL813P | T | 6.3 |
| rs112017605 | 5e-10 | LINC02929 | A | 3.01 |
| rs35749011 | 7e-10 | HMGN2P18 - KRTCAP2 | G | 2.27 |
| rs13216201 | 9e-10 | TREML2 | T | 6.12 |
| rs12734374 | 1e-09 | ASH1L | ? | 4.31 |
| rs6599388 | 3e-09 | TMEM175 | T | 1.15 |
| rs620490 | 3e-09 | MSR1 - RN7SL474P | G | 5.91 |
| rs1867598 | 4e-09 | ELOVL7 | G | 5.87 |
| rs117896735 | 8e-09 | INPP5F | A | 5.76 |
| rs897984 | 1e-08 | BCL7C, MIR4519, MIR762HG | ? | 1.3 |
| rs12453 | 1e-08 | MS4A6A | C | 5.74 |
| rs4389574 | 1e-08 | BST1 | A | 5.68 |
| rs9790947 | 2e-08 | HAVCR2 | T | 5.61 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|
| GCST90705033 | Zhu P | 2025 | 3,663 | 5,290 | Genome-wide association study provides insights into the genetic basis of Lewy body dementia. |
| GCST90502823 | Bayram E | 2024 | 2,591 | 4,023 | Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci. |
| GCST90133379 | Guo P | 2022 | 2,591 | 4,027 | Pinpointing novel risk loci for Lewy body dementia and the shared genetic etiology with Alzheimer’s disease and Parkinson’s disease: a large-scale multi-trait association analysis. |
| GCST90001390 | Chia R | 2021 | 2,591 | 4,027 | Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. |
| GCST90502821 | Bayram E | 2024 | 1,643 | 1,963 | Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci. |
| GCST90093377 | Kaivola K | 2021 | 1,393 | 2,271 | Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups. |
| GCST005276 | Guerreiro R | 2018 | 1,216 | 3,791 | Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. |
| GCST90093378 | Kaivola K | 2021 | 1,180 | 0 | Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups. |
| GCST90276157 | Talyansky S | 2023 | 1,072 | 1,263 | APOE-ε4 and BIN1 increase risk of Alzheimer’s disease pathology but not specifically of Lewy body pathology. |
| GCST90276160 | Talyansky S | 2023 | 1,072 | 2,492 | APOE-ε4 and BIN1 increase risk of Alzheimer’s disease pathology but not specifically of Lewy body pathology. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|
| Tier 1: coding | 5 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 44 |
MAF distribution
| Bucket | Variants |
|---|
| common (>=0.05) | 37 |
| low_freq (0.01-0.05) | 13 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|
| intron_variant | 30 |
| intergenic_variant | 10 |
| missense_variant | 5 |
| non_coding_transcript_exon_variant | 2 |
| unknown | 2 |
| 3_prime_UTR_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|
| rs157595 | 19 | 44922203 | A>G,T | 0.41 | intergenic_variant | APOC1 - APOC1P1 | 4e-145 | Tier 4: intronic/intergenic |
| rs769449 | 19 | 44906745 | G>A | 0.11 | intron_variant | APOE | 3e-101 | Tier 4: intronic/intergenic |
| rs429358 | 19 | 44908684 | T>C | 0.14 | missense_variant | APOE | 3e-64 | Tier 1: coding |
| rs6733839 | 2 | 127135234 | C>G,T | 0.362 | intron_variant | BIN1 - NIFKP9 | 2e-31 | Tier 4: intronic/intergenic |
| rs34311866 | 4 | 958159 | T>C | 0.202 | missense_variant | TMEM175 | 1e-27 | Tier 1: coding |
| rs1372518 | 4 | 89836143 | A>C,G,T | 0.234 | intron_variant | SNCA | 3e-26 | Tier 4: intronic/intergenic |
| rs2532307 | 17 | 46143984 | G>A,C | 0.233 | intron_variant | KANSL1 | 4e-26 | Tier 4: intronic/intergenic |
| rs35603727 | 1 | 156038197 | G>A | 0.014 | intron_variant | UBQLN4 | 2e-21 | Tier 4: intronic/intergenic |
| rs7680557 | 4 | 89842209 | C>A,G,T | 0.491 | non_coding_transcript_exon_variant | SNCA-AS1 | 3e-17 | Tier 4: intronic/intergenic |
| rs2230288 | 1 | 155236376 | C>G,T | 0.013 | missense_variant | GBA1 | 5e-16 | Tier 1: coding |
| rs1532278 | 8 | 27608798 | T>A,C | 0.388 | intron_variant | CLU | 6e-14 | Tier 4: intronic/intergenic |
| rs7185007 | 16 | 30916188 | C>A,T | 0.239 | intergenic_variant | CTF2P - FBXL19-AS1 | 6e-14 | Tier 4: intronic/intergenic |
| rs7681440 | 4 | 89835399 | C>A,G,T | 0.48 | intron_variant | SNCA | 9e-13 | Tier 4: intronic/intergenic |
| rs10513789 | 3 | 183042285 | T>C,G | 0.201 | intron_variant | MCCC1 | 1e-12 | Tier 4: intronic/intergenic |
| rs111789331 | 19 | 44923868 | T>A | 0.1 | intergenic_variant | APOC1 - APOC1P1 | 7e-12 | Tier 4: intronic/intergenic |
| rs4663105 | 2 | 127133851 | A>C | 0.05 | intron_variant | BIN1 - NIFKP9 | 7e-12 | Tier 4: intronic/intergenic |
| rs894280 | 4 | 89839732 | C>A,G,T | 0.05 | intron_variant | SNCA-AS1 | 2e-11 | Tier 4: intronic/intergenic |
| rs1474055 | 2 | 168253884 | C>T | 0.127 | intron_variant | STK39 - RN7SL813P | 3e-10 | Tier 4: intronic/intergenic |
| rs112017605 | 10 | 62580294 | G>A | 0.06 | intron_variant | LINC02929 | 5e-10 | Tier 4: intronic/intergenic |
| rs35749011 | 1 | 155162560 | G>A,T | 0.014 | intergenic_variant | HMGN2P18 - KRTCAP2 | 7e-10 | Tier 4: intronic/intergenic |
| rs13216201 | 6 | 41194322 | G>T | 0.301 | intron_variant | TREML2 | 9e-10 | Tier 4: intronic/intergenic |
| rs12734374 | 1 | 155419060 | A>T | 0.05 | intron_variant | ASH1L | 1e-09 | Tier 4: intronic/intergenic |
| rs6599388 | 4 | 945299 | C>T | 0.286 | intron_variant | TMEM175 | 3e-09 | Tier 4: intronic/intergenic |
| rs620490 | 8 | 16840070 | T>A,C,G | 0.278 | intron_variant | MSR1 - RN7SL474P | 3e-09 | Tier 4: intronic/intergenic |
| rs1867598 | 5 | 60842132 | A>C,G | 0.099 | intron_variant | ELOVL7 | 4e-09 | Tier 4: intronic/intergenic |
| rs117896735 | 10 | 119776815 | G>A | 0.014 | intron_variant | INPP5F | 8e-09 | Tier 4: intronic/intergenic |
| rs897984 | 16 | 30875322 | T>A,C,G | 0.4 | non_coding_transcript_exon_variant | BCL7C, MIR4519, MIR762HG | 1e-08 | Tier 4: intronic/intergenic |
| rs12453 | 11 | 60178272 | T>C,G | 0.411 | missense_variant | MS4A6A | 1e-08 | Tier 1: coding |
| rs4389574 | 4 | 15728775 | A>G | 0.452 | intron_variant | BST1 | 1e-08 | Tier 4: intronic/intergenic |
| rs9790947 | 5 | 157115171 | T>A,C | 0.165 | intergenic_variant | HAVCR2 | 2e-08 | Tier 4: intronic/intergenic |
ClinVar germline variants
126 retrieved; paginated sample, class counts are floors:
40 uncertain significance, 26 likely benign, 17 pathogenic/likely pathogenic, 16 pathogenic, 11 conflicting classifications of pathogenicity, 6 benign/likely benign, 5 likely pathogenic, 2 benign, 1 not provided, 1 conflicting classifications of pathogenicity; risk factor, 1 pathogenic/likely pathogenic; risk factor
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|
| 1119997 | NM_000157.4(GBA1):c.604C>T (p.Arg202Ter) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1211295 | NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1722541 | NM_000157.4(GBA1):c.1361C>T (p.Pro454Leu) | GBA1 | Pathogenic | no assertion criteria provided |
| 193611 | NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) | GBA1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 21072 | NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4290 | NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) | GBA1 | Pathogenic/Likely pathogenic; risk factor | criteria provided, multiple submitters, no conflicts |
| 4292 | NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4293 | NM_000157.4(GBA1):c.1342G>C (p.Asp448His) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4295 | NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) | GBA1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 4298 | NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4301 | NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4302 | NM_000157.4(GBA1):c.84dup (p.Leu29fs) | GBA1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 4311 | NM_000157.4(GBA1):c.1604G>A (p.Arg535His) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4314 | NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) | GBA1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 4321 | NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) | GBA1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 4326 | NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) | GBA1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 4327 | NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4328 | NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) | GBA1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 632835 | NM_000157.4(GBA1):c.595_596del (p.Leu199fs) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 633240 | NM_000157.4(GBA1):c.762-1G>C | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 642539 | NM_000157.4(GBA1):c.222_224del (p.Thr75del) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 928837 | NM_000157.4(GBA1):c.914del (p.Pro305fs) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 932181 | NM_000157.4(GBA1):c.661C>A (p.Pro221Thr) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 93445 | NM_000157.4(GBA1):c.115+1G>A | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 987870 | NM_000157.4(GBA1):c.203dup (p.Thr69fs) | GBA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4306 | NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) | LOC106627981 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 14011 | NC_000004.12:g.(?89724098)(89927969_89934809)dup | LOC129389225 | Pathogenic | no assertion criteria provided |
| 14007 | NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) | SNCA | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 14010 | NM_000345.4(SNCA):c.136G>A (p.Glu46Lys) | SNCA | Pathogenic | criteria provided, single submitter |
| 1454898 | NC_000004.11:g.(?90647779)(90756818_?)dup | SNCA | Pathogenic | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 12 · Orphanet: 29 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 2
Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)
| Gene | HGNC | Evidence routes |
|---|
| SNCA | SNCA | GWAS, GenCC, Orphanet |
| GBA1 | GBA1 | GWAS, Orphanet |
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|
| SNCA | Strong | Autosomal dominant | Lewy body dementia | 10 |
| SNCB | Moderate | Unknown | Lewy body dementia | 2 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|
| SNCA | Orphanet:171695 | Parkinsonian-pyramidal syndrome |
| SNCA | Orphanet:2828 | Young-onset Parkinson disease |
| SNCA | Orphanet:411602 | Hereditary late-onset Parkinson disease |
| GBA1 | Orphanet:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
| GBA1 | Orphanet:411602 | Hereditary late-onset Parkinson disease |
| GBA1 | Orphanet:77259 | Gaucher disease type 1 |
| GBA1 | Orphanet:77260 | Gaucher disease type 2 |
| GBA1 | Orphanet:77261 | Gaucher disease type 3 |
| GBA1 | Orphanet:85212 | Fetal Gaucher disease |
| VCP | Orphanet:100070 | Progressive non-fluent aphasia |
| VCP | Orphanet:275864 | Behavioral variant of frontotemporal dementia |
| VCP | Orphanet:275872 | Frontotemporal dementia with motor neuron disease |
| VCP | Orphanet:329475 | Spastic paraplegia-Paget disease of bone syndrome |
| VCP | Orphanet:329478 | Adult-onset distal myopathy due to VCP mutation |
| VCP | Orphanet:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y |
| VCP | Orphanet:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
| VCP | Orphanet:803 | Amyotrophic lateral sclerosis |
| STX1B | Orphanet:36387 | Genetic epilepsy with febrile seizure plus |
| ASH1L | Orphanet:178469 | Autosomal dominant non-syndromic intellectual disability |
| CTNND2 | Orphanet:178469 | Autosomal dominant non-syndromic intellectual disability |
| CTNND2 | Orphanet:281 | Monosomy 5p syndrome |
| CTNND2 | Orphanet:86814 | Familial adult myoclonic epilepsy |
| GNB5 | Orphanet:542306 | GNB5-related intellectual disability-cardiac arrhythmia syndrome |
| APOE | Orphanet:329481 | Lipoprotein glomerulopathy |
| APOE | Orphanet:412 | Dysbetalipoproteinemia |
| MYO7A | Orphanet:231169 | Usher syndrome type 1 |
| MYO7A | Orphanet:231178 | Usher syndrome type 2 |
| MYO7A | Orphanet:90635 | Rare autosomal dominant non-syndromic sensorineural deafness type DFNA |
| MYO7A | Orphanet:90636 | Rare autosomal recessive non-syndromic sensorineural deafness type DFNB |
Cohort genes → proteins
19 cohort genes, 19 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|
| gwas_only | 15 |
| gwas_and_clinvar | 1 |
| multi_evidence | 3 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|
| SNCA | HGNC:11138 | ENSG00000145335 | P37840 | Alpha-synuclein | gwas,gencc,clinvar |
| SNCB | HGNC:11140 | ENSG00000074317 | Q16143 | Beta-synuclein | gencc,clinvar |
| GBA1 | HGNC:4177 | ENSG00000177628 | P04062 | Lysosomal acid glucosylceramidase | gwas,clinvar |
| BCL7C | HGNC:1006 | ENSG00000099385 | Q8WUZ0 | B-cell CLL/lymphoma 7 protein family member C | gwas |
| VCP | HGNC:12666 | ENSG00000165280 | P55072 | Transitional endoplasmic reticulum ATPase | clinvar |
| PARVB | HGNC:14653 | ENSG00000188677 | Q9HBI1 | Beta-parvin | gwas |
| PDLIM5 | HGNC:17468 | ENSG00000163110 | Q96HC4 | PDZ and LIM domain protein 5 | gwas |
| STX1B | HGNC:18539 | ENSG00000099365 | P61266 | Syntaxin-1B | gwas |
| ASH1L | HGNC:19088 | ENSG00000116539 | Q9NR48 | Histone-lysine N-methyltransferase ASH1L | gwas |
| VPS36 | HGNC:20312 | ENSG00000136100 | Q86VN1 | Vacuolar protein-sorting-associated protein 36 | gwas |
| FRMD3 | HGNC:24125 | ENSG00000172159 | A2A2Y4 | FERM domain-containing protein 3 | gwas |
| CTNND2 | HGNC:2516 | ENSG00000169862 | Q9UQB3 | Catenin delta-2 | gwas |
| GARNL3 | HGNC:25425 | ENSG00000136895 | Q5VVW2 | GTPase-activating Rap/Ran-GAP domain-like protein 3 | gwas |
| GON4L | HGNC:25973 | ENSG00000116580 | Q3T8J9 | GON-4-like protein | gwas |
| SPHKAP | HGNC:30619 | ENSG00000153820 | Q2M3C7 | A-kinase anchor protein SPHKAP | gwas |
| GNB5 | HGNC:4401 | ENSG00000069966 | O14775 | Guanine nucleotide-binding protein subunit beta-5 | gwas |
| IRF2 | HGNC:6117 | ENSG00000168310 | P14316 | Interferon regulatory factor 2 | gwas |
| APOE | HGNC:613 | ENSG00000130203 | P02649 | Apolipoprotein E | gwas |
| MYO7A | HGNC:7606 | ENSG00000137474 | Q13402 | Unconventional myosin-VIIa | gwas |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|
| SNCA | Alpha-synuclein | Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release. |
| SNCB | Beta-synuclein | Non-amyloid component of senile plaques found in Alzheimer disease. |
| GBA1 | Lysosomal acid glucosylceramidase | Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine) into free ceramides (such as N-acylsphing-4-enine) and glucose. |
| BCL7C | B-cell CLL/lymphoma 7 protein family member C | May play an anti-apoptotic role. |
| VCP | Transitional endoplasmic reticulum ATPase | Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. |
| PARVB | Beta-parvin | Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. |
| PDLIM5 | PDZ and LIM domain protein 5 | May play an important role in the heart development by scaffolding PKC to the Z-disk region. |
| STX1B | Syntaxin-1B | Potentially involved in docking of synaptic vesicles at presynaptic active zones. |
| ASH1L | Histone-lysine N-methyltransferase ASH1L | Histone methyltransferase specifically trimethylating ‘Lys-36’ of histone H3 forming H3K36me3. |
| VPS36 | Vacuolar protein-sorting-associated protein 36 | Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. |
| FRMD3 | FERM domain-containing protein 3 | Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer. |
| CTNND2 | Catenin delta-2 | Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses. |
| GON4L | GON-4-like protein | Acts as a key transcription regulator of histones. |
| SPHKAP | A-kinase anchor protein SPHKAP | Anchoring protein that binds preferentially to the type I regulatory subunit of c-AMP-dependent protein kinase (PKA type I) and targets it to distinct subcellular compartments. |
| GNB5 | Guanine nucleotide-binding protein subunit beta-5 | Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, such as RGS7 and RGS9, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by acceler… |
| IRF2 | Interferon regulatory factor 2 | DNA-binding transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible genes and regulates their expression. |
| APOE | Apolipoprotein E | APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids. |
| MYO7A | Unconventional myosin-VIIa | Myosins are actin-based motor molecules with ATPase activity. |
Protein-family classification
Druggable: 2 · Difficult: 5 · Unknown: 12 · Druggable fraction: 0.11
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|
| Scaffold/PPI | 2 | 1.8× | 0.478 |
| Transcription factor | 3 | 1.3× | 0.478 |
| Enzyme (other) | 2 | 1.3× | 0.478 |
| Other/Unknown | 12 | 1.1× | 0.478 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|
| SNCA | Other/Unknown | no | | Synuclein, Synuclein_alpha |
| SNCB | Other/Unknown | no | | Synuclein, Synuclein_beta |
| GBA1 | Enzyme (other) | yes | 3.2.1.45 | Glyco_hydro_30, GH_hydrolase_sf, GH30_C |
| BCL7C | Other/Unknown | no | | BCL7 |
| VCP | Enzyme (other) | yes | 3.6.4.6 | CDC4_N-term_subdom, AAA+_ATPase, ATPase_AAA_core |
| PARVB | Other/Unknown | no | | CH_dom, Parvin, CH_dom_sf |
| PDLIM5 | Transcription factor | no | | PDZ, Znf_LIM, PDZ_sf |
| STX1B | Other/Unknown | no | | T_SNARE_dom, Syntaxin_N, Syntaxin/epimorphin_CS |
| ASH1L | Transcription factor | no | 2.1.1.357 | BAH_dom, SET_dom, Bromodomain |
| VPS36 | Other/Unknown | no | | PH-like_dom_sf, GLUE_dom, WH-like_DNA-bd_sf |
| FRMD3 | Other/Unknown | no | | FERM_domain, Ez/rad/moesin-like, PH-like_dom_sf |
| CTNND2 | Other/Unknown | no | | Armadillo, ARM-like, ARM-type_fold |
| GARNL3 | Other/Unknown | no | | Rap/Ran_GAP_dom, CNH_dom, Rap/Ran-GAP_sf |
| GON4L | Transcription factor | no | | SANT/Myb, PAH, Homeodomain-like_sf |
| SPHKAP | Other/Unknown | no | | SPHK1-interactor_AKAP_110, AKAP_110_C |
| GNB5 | Scaffold/PPI | no | | WD40_G-protein_beta-like, WD40_rpt, WD40/YVTN_repeat-like_dom_sf |
| IRF2 | Other/Unknown | no | | Interferon_reg_fact_DNA-bd_dom, IRF1/IRF2, Interferon_reg_fac_CS |
| APOE | Other/Unknown | no | | ApoA_E, Apolipoprotein_A1/A4/E |
| MYO7A | Scaffold/PPI | no | | IQ_motif_EF-hand-BS, FERM_domain, MyTH4_dom |
Expression context
Cohort genes with no expression data: 0.
19 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 19 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|
| cerebellar hemisphere | 4 |
| right hemisphere of cerebellum | 3 |
| islet of Langerhans | 2 |
| stromal cell of endometrium | 2 |
| cerebellar cortex | 2 |
| left ventricle myocardium | 2 |
| left adrenal gland | 2 |
| right adrenal gland cortex | 2 |
| orbitofrontal cortex | 1 |
| pons | 1 |
| trabecular bone tissue | 1 |
| right frontal lobe | 1 |
| placenta | 1 |
| apex of heart | 1 |
| lower esophagus mucosa | 1 |
| olfactory segment of nasal mucosa | 1 |
| adrenal tissue | 1 |
| gastrocnemius | 1 |
| hindlimb stylopod muscle | 1 |
| muscle of leg | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|
| SNCA | 280 | ubiquitous | marker | trabecular bone tissue, orbitofrontal cortex, pons |
| SNCB | 171 | broad | marker | right hemisphere of cerebellum, right frontal lobe, cerebellar hemisphere |
| GBA1 | 134 | ubiquitous | marker | stromal cell of endometrium, islet of Langerhans, placenta |
| BCL7C | 262 | ubiquitous | marker | lower esophagus mucosa, olfactory segment of nasal mucosa, apex of heart |
| VCP | 294 | ubiquitous | marker | stromal cell of endometrium, adrenal tissue, islet of Langerhans |
| PARVB | 235 | ubiquitous | marker | hindlimb stylopod muscle, gastrocnemius, muscle of leg |
| PDLIM5 | 295 | ubiquitous | marker | biceps brachii, skeletal muscle tissue of biceps brachii, skeletal muscle tissue of rectus abdominis |
| STX1B | 176 | ubiquitous | marker | right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex |
| ASH1L | 267 | ubiquitous | marker | Brodmann (1909) area 23, pylorus, cardia of stomach |
| VPS36 | 254 | ubiquitous | marker | upper arm skin, ileal mucosa, skin of hip |
| FRMD3 | 250 | broad | marker | secondary oocyte, kidney epithelium, left ventricle myocardium |
| CTNND2 | 213 | broad | marker | cortical plate, prefrontal cortex, amygdala |
| GARNL3 | 207 | ubiquitous | marker | cerebellar hemisphere, cerebellar cortex, right hemisphere of cerebellum |
| GON4L | 255 | ubiquitous | marker | sural nerve, granulocyte, colonic epithelium |
| SPHKAP | 127 | tissue_specific | marker | left ventricle myocardium, cardiac muscle of right atrium, myocardium |
| GNB5 | 279 | ubiquitous | marker | middle temporal gyrus, endothelial cell, cerebellar hemisphere |
| IRF2 | 248 | ubiquitous | marker | monocyte, leukocyte, mononuclear cell |
| APOE | 267 | ubiquitous | marker | left adrenal gland, left adrenal gland cortex, right adrenal gland cortex |
| MYO7A | 186 | broad | marker | right adrenal gland cortex, right adrenal gland, left adrenal gland |
Protein interactions among cohort
Intra-cohort edges: 5.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|
| VCP | 10,015 |
| SNCA | 7,615 |
| APOE | 6,793 |
| GNB5 | 2,987 |
| ASH1L | 2,789 |
| GBA1 | 2,568 |
| CTNND2 | 2,437 |
| IRF2 | 2,258 |
| SNCB | 2,157 |
| STX1B | 2,130 |
Intra-cohort edges
| A | B | Sources |
|---|
| APOE | SNCA | intact, string_interaction |
| ASH1L | GON4L | string_interaction |
| GBA1 | SNCA | biogrid_interaction, string_interaction |
| GBA1 | SNCB | string_interaction |
| SNCA | SNCB | biogrid_interaction, intact, string_interaction |
Structural data
PDB: 11 · AlphaFold-only: 8 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|
| SNCA | P37840 | 232 |
| VCP | P55072 | 144 |
| GBA1 | P04062 | 58 |
| GNB5 | O14775 | 32 |
| APOE | P02649 | 29 |
| ASH1L | Q9NR48 | 16 |
| PARVB | Q9HBI1 | 3 |
| PDLIM5 | Q96HC4 | 3 |
| VPS36 | Q86VN1 | 3 |
| IRF2 | P14316 | 1 |
| MYO7A | Q13402 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|
| STX1B | P61266 | 84.17 |
| FRMD3 | A2A2Y4 | 75.03 |
| GARNL3 | Q5VVW2 | 74.39 |
| BCL7C | Q8WUZ0 | 63.71 |
| SNCB | Q16143 | 61.29 |
| CTNND2 | Q9UQB3 | 58.88 |
| GON4L | Q3T8J9 | 48.51 |
| SPHKAP | Q2M3C7 | 47.68 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 158. Enrichment computed across 19 evidence-associated genes (14 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 14 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|
| Toxicity of botulinum toxin type C (botC) | 1 | 271.9× | 0.097 | STX1B |
| MTF1 activates gene expression | 1 | 271.9× | 0.097 | SNCB |
| Attachment and Entry | 1 | 203.9× | 0.097 | VCP |
| Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template | 1 | 163.1× | 0.097 | VCP |
| DNA Damage Bypass | 1 | 163.1× | 0.097 | VCP |
| Chylomicron clearance | 1 | 163.1× | 0.097 | APOE |
| Neurotoxicity of clostridium toxins | 1 | 102.0× | 0.097 | STX1B |
| Regulation of cytoskeletal remodeling and cell spreading by IPP complex components | 1 | 102.0× | 0.097 | PARVB |
| Hh mutants abrogate ligand secretion | 1 | 102.0× | 0.097 | VCP |
| Chylomicron assembly | 1 | 81.6× | 0.097 | APOE |
| Chylomicron remodeling | 1 | 81.6× | 0.097 | APOE |
| HDL remodeling | 1 | 81.6× | 0.097 | APOE |
| Early SARS-CoV-2 Infection Events | 1 | 74.2× | 0.097 | VCP |
| Josephin domain DUBs | 1 | 68.0× | 0.097 | VCP |
| Response to metal ions | 1 | 62.8× | 0.097 | SNCB |
| Uptake and actions of bacterial toxins | 1 | 58.3× | 0.097 | STX1B |
| LGI-ADAM interactions | 1 | 58.3× | 0.097 | STX1B |
| Protein ubiquitination | 1 | 58.3× | 0.097 | VCP |
| Regulated Necrosis | 1 | 51.0× | 0.097 | IRF2 |
| Plasma lipoprotein assembly | 1 | 51.0× | 0.097 | APOE |
| Cell-extracellular matrix interactions | 1 | 48.0× | 0.097 | PARVB |
| Protein methylation | 1 | 48.0× | 0.097 | VCP |
| Formation of the non-canonical BAF (ncBAF) complex | 1 | 48.0× | 0.097 | BCL7C |
| Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors | 1 | 45.3× | 0.097 | APOE |
| G beta:gamma signalling through BTK | 1 | 45.3× | 0.097 | GNB5 |
| Formation of the canonical BAF (cBAF) complex | 1 | 45.3× | 0.097 | BCL7C |
| Formation of the polybromo-BAF (pBAF) complex | 1 | 45.3× | 0.097 | BCL7C |
| Translesion Synthesis by POLH | 1 | 42.9× | 0.097 | VCP |
| Scavenging by Class A Receptors | 1 | 42.9× | 0.097 | APOE |
| Prostacyclin signalling through prostacyclin receptor | 1 | 42.9× | 0.097 | GNB5 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 18 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|
| negative regulation of protein metabolic process | 2 | 234.1× | 0.003 | GBA1, APOE |
| positive regulation of neurotransmitter secretion | 2 | 208.1× | 0.003 | SNCA, STX1B |
| negative regulation of platelet-derived growth factor receptor signaling pathway | 2 | 208.1× | 0.003 | SNCA, APOE |
| negative regulation of MAPK cascade | 3 | 50.1× | 0.003 | GBA1, ASH1L, APOE |
| synapse organization | 3 | 46.8× | 0.003 | SNCA, SNCB, CTNND2 |
| neuron apoptotic process | 3 | 30.9× | 0.007 | SNCA, SNCB, GBA1 |
| positive regulation of endocytosis | 2 | 89.2× | 0.011 | SNCA, APOE |
| neutral lipid metabolic process | 1 | 936.2× | 0.013 | SNCA |
| lipid transport involved in lipid storage | 1 | 936.2× | 0.013 | APOE |
| positive regulation of SNARE complex assembly | 1 | 936.2× | 0.013 | SNCA |
| regulation of acyl-CoA biosynthetic process | 1 | 936.2× | 0.013 | SNCA |
| negative regulation of dopamine uptake involved in synaptic transmission | 1 | 936.2× | 0.013 | SNCA |
| negative regulation of norepinephrine uptake | 1 | 936.2× | 0.013 | SNCA |
| maintenance of location in cell | 1 | 936.2× | 0.013 | APOE |
| pigment granule transport | 1 | 936.2× | 0.013 | MYO7A |
| intermediate-density lipoprotein particle clearance | 1 | 936.2× | 0.013 | APOE |
| flavin adenine dinucleotide catabolic process | 1 | 936.2× | 0.013 | VCP |
| positive regulation of lipid transport across blood-brain barrier | 1 | 936.2× | 0.013 | APOE |
| negative regulation of synaptic vesicle recycling | 1 | 936.2× | 0.013 | STX1B |
| tarsal gland development | 1 | 936.2× | 0.013 | ASH1L |
| uterine gland development | 1 | 936.2× | 0.013 | ASH1L |
| positive regulation of spontaneous neurotransmitter secretion | 1 | 936.2× | 0.013 | STX1B |
| response to desipramine | 1 | 936.2× | 0.013 | SNCA |
| positive regulation of neuronal action potential | 1 | 936.2× | 0.013 | GBA1 |
| negative regulation of macropinocytosis | 1 | 936.2× | 0.013 | STX1B |
| regulation of cellular response to very-low-density lipoprotein particle stimulus | 1 | 936.2× | 0.013 | APOE |
| synaptic vesicle endocytosis | 2 | 48.0× | 0.013 | SNCA, SNCB |
| negative regulation of neuron apoptotic process | 3 | 18.5× | 0.013 | SNCA, SNCB, GBA1 |
| regulation of glutamate secretion | 1 | 468.1× | 0.018 | SNCA |
| cerebellar Purkinje cell layer formation | 1 | 468.1× | 0.018 | GBA1 |
Therapeutics
Drugs indicated for this disease
0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|
| Galantamine | Phase 3 (in late-stage trials) |
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 3 · Undrugged: 16
Druggability breadth: 5 of 19 evidence-associated genes (26%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|
| SNCA | ESTRADIOL |
| GBA1 | MIGALASTAT |
| VCP | CLOTRIMAZOLE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|
| SNCA | 31 | 4 |
| GBA1 | 12 | 4 |
| VCP | 4 | 4 |
| SNCB | 0 | 0 |
| BCL7C | 0 | 0 |
| PARVB | 0 | 0 |
| PDLIM5 | 0 | 0 |
| STX1B | 0 | 0 |
| ASH1L | 0 | 0 |
| VPS36 | 0 | 0 |
Drugs targeting cohort genes (top 30)
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 3.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|
| SNCA | 459 | Binding:458, Functional:1 |
| GBA1 | 436 | Binding:403, Functional:33 |
| VCP | 120 | Binding:120 |
| ASH1L | 65 | Binding:63, ADMET:1, Functional:1 |
| PDLIM5 | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|
| GBA1 | 3.2.1.45 | glucosylceramidase |
| VCP | 3.6.4.6 | vesicle-fusing ATPase |
| ASH1L | 2.1.1.357 | [histone H3]-lysine36 N-dimethyltransferase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|
| SNCA | 459 |
| GBA1 | 436 |
| VCP | 120 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 19; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
| Compound | Max phase | Cohort target (bioactivity) |
|---|
| ESTRADIOL | 4 | SNCA |
| ESTRONE | 4 | SNCA |
| TETRACYCLINE | 4 | SNCA |
| PHYTONADIONE | 4 | SNCA |
| CEFTRIAXONE | 4 | SNCA |
| FLORBETAPIR | 4 | SNCA |
| ESTRIOL | 4 | SNCA |
| RIFAMPIN | 4 | SNCA |
| TRETINOIN | 4 | SNCA |
| TESTOSTERONE | 4 | SNCA |
| BRILLIANT BLUE G | 4 | SNCA |
| BROMOCRIPTINE | 4 | SNCA |
| PERGOLIDE | 4 | SNCA |
| DOPAMINE | 4 | SNCA |
| MENADIONE | 4 | SNCA |
| GENTIAN VIOLET | 4 | GBA1, SNCA |
| SELEGILINE | 4 | SNCA |
| RETINOL | 4 | SNCA |
| MIGALASTAT | 4 | GBA1 |
| GLUCONOLACTONE | 4 | GBA1 |
| MIGLITOL | 4 | GBA1 |
| MEXILETINE | 4 | GBA1 |
| CHLORHEXIDINE | 4 | GBA1 |
| TAMOXIFEN | 4 | GBA1 |
| CLOTRIMAZOLE | 4 | VCP |
| GANCICLOVIR | 4 | VCP |
| HEXACHLOROPHENE | 4 | VCP |
| CURCUMIN | 3 | SNCA |
| MENATETRENONE | 3 | SNCA |
| HYPERICIN | 3 | SNCA |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|
| A | Approved (phase 4 drug) | 3 | SNCA, GBA1, VCP |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 16 | SNCB, BCL7C, PARVB, PDLIM5, STX1B, ASH1L, VPS36, FRMD3, CTNND2, GARNL3 (+6 more) |
Undrugged target profiles
16 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|
| SNCB | 0 | GBA1 |
| BCL7C | 0 | — |
| PARVB | 0 | — |
| PDLIM5 | 1 | — |
| STX1B | 0 | — |
| ASH1L | 65 | — |
| VPS36 | 0 | — |
| FRMD3 | 0 | — |
| CTNND2 | 0 | — |
| GARNL3 | 0 | — |
| GON4L | 0 | — |
| SPHKAP | 0 | — |
| GNB5 | 0 | — |
| IRF2 | 0 | — |
| APOE | 0 | — |
| MYO7A | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 204.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|
| Not specified | 145 |
| PHASE2 | 29 |
| PHASE4 | 11 |
| PHASE3 | 6 |
| PHASE1/PHASE2 | 4 |
| PHASE2/PHASE3 | 3 |
| PHASE1 | 3 |
| EARLY_PHASE1 | 3 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|
| NCT00950430 | PHASE4 | ENROLLING_BY_INVITATION | Imaging of Brain Amyloid Plaques in the Aging Population |
| NCT03582488 | PHASE4 | ENROLLING_BY_INVITATION | Longitudinal Imaging Biomarkers of Disease Progression in DLB |
| NCT03924414 | PHASE4 | ACTIVE_NOT_RECRUITING | Trial of Parkinson’s And Zoledronic Acid |
| NCT05514106 | PHASE4 | ENROLLING_BY_INVITATION | MIBG in Aging and Neurologic Disorders |
| NCT05590637 | PHASE4 | RECRUITING | Comparing Antipsychotic Medications in LBD Over Time |
| NCT07284290 | PHASE4 | RECRUITING | Elucidating the Role of Cholinergic Degeneration in Cognitive Fluctuations in Lewy Body Dementia |
| NCT00855686 | PHASE4 | COMPLETED | Memantine Versus Placebo in Parkinson’s Disease Dementia or Dementia With Lewy Bodies |
| NCT01023672 | PHASE4 | COMPLETED | Pilot Study of Armodafinil in Patients With Dementia With Lewy Bodies |
| NCT02345213 | PHASE4 | COMPLETED | A Post-Marketing Clinical Study of Aricept in Patients With Dementia With Lewy Bodies (DLB) |
| NCT04117178 | PHASE4 | COMPLETED | Monitoring Anti-Dementia Drugs by Serum Levels |
| NCT06263673 | PHASE4 | COMPLETED | Anti-Diabetic Medications to Fight PD and LBD |
| NCT04706910 | PHASE3 | RECRUITING | 18F-DOPA II - PET Imaging Optimization |
| NCT06120049 | PHASE2/PHASE3 | RECRUITING | [18F]-MFBG Versus [123I]-MIBG and [18F]-PE2I in PD vs. MSA and DLB vs. AD |
| NCT00209456 | PHASE3 | COMPLETED | Dopamine Transporter Scintigraphy Imaging (DAT-Imaging) in Patients With Lewy Body Dementia |
| NCT00230997 | PHASE3 | COMPLETED | Safety and Efficacy of Galantamine in Patients With Dementia With Lewy Bodies |
| NCT00448318 | PHASE2/PHASE3 | UNKNOWN | Evaluating the Effects of Music Interventions on Hospitalised People With Dementia |
| NCT01278407 | PHASE3 | COMPLETED | A Study of E2020 in Patients With Dementia With Lewy Bodies (DLB), Followed by a Long-term Extension Phase |
| NCT01577394 | PHASE3 | COMPLETED | Oculomotor Testing in the Differential Diagnosis of Dementia |
| NCT02928445 | PHASE2/PHASE3 | TERMINATED | Long-Term Extension Study of Intepirdine (RVT-101) in Subjects With Dementia With Lewy Bodies: HEADWAY-DLB Extension |
| NCT05428475 | PHASE3 | UNKNOWN | Implementation and Evaluation of Improved Access to Medical Imaging for Geriatric Patients of The Royal Ottawa Hospital |
| NCT03996460 | PHASE2 | RECRUITING | K0706 for Patients Diagnosed With Dementia With Lewy Bodies |
| NCT04148391 | PHASE2 | ACTIVE_NOT_RECRUITING | NYX-458 in Subjects With Mild Cognitive Impairment or Mild Dementia Due to Parkinson’s Disease or Lewy Body Dementia (Cognition, Memory, Attention, Thinking) |
| NCT04405596 | PHASE1/PHASE2 | NOT_YET_RECRUITING | Ambroxol as a Novel Disease Modifying Treatment for Lewy Body Dementia |
| NCT04588285 | PHASE2 | RECRUITING | Ambroxol in New and Early DLB, A Phase IIa Multicentre Randomized Controlled Double Blind Clinical Trial |
| NCT04760860 | PHASE1/PHASE2 | NOT_YET_RECRUITING | Terazosin for Dementia With Lewy Bodies |
| NCT04786223 | PHASE2 | ENROLLING_BY_INVITATION | Targeting Neuroinflammation as a Contributing Pathology in Alzheimer’s Disease Dementia and Related Dementias |
| NCT06537076 | PHASE2 | RECRUITING | Safety and Efficacy of AR1005 in Patients with Lewy Body Disease |
| NCT07122908 | PHASE1/PHASE2 | RECRUITING | The Effect of Repetitive Transcranial Magnetic Stimulation on Cognitive Improvement in Dementia With Lewy Bodies |
| NCT07176286 | PHASE2 | RECRUITING | 18F-mFBG Cardiac Uptake With Lewy Body Dementia |
| NCT07589595 | PHASE2 | NOT_YET_RECRUITING | A Study of Donanemab (LY3002813) in Participants With Early Cognitive Decline (TRAILBLAZER-ALZ 7) |
| NCT00543855 | PHASE2 | COMPLETED | A Double-blind Study of E2020 (Donepezil Hydrochloride) in Patients With Dementia With Lewy Bodies (DLB) (Study E2020-J081-431) |
| NCT00598650 | PHASE2 | COMPLETED | A Long-term, Extension Study of E2020 in Patients With Dementia With Lewy Bodies |
| NCT00630500 | PHASE2 | COMPLETED | Efficacy and Safety of Memantine for Parkinson’s Disease Dementia (PDD) and Dementia With Lewy Bodies (DLB) |
| NCT01503944 | PHASE1/PHASE2 | COMPLETED | A Trial of 18F-AV-133 and 18F-AV-45 Positron Emission Tomography (PET) |
| NCT02640729 | PHASE2 | COMPLETED | Study Evaluating Nelotanserin for Treatment of Visual Hallucinations in Subjects With Lewy Body Dementia |
| NCT02669433 | PHASE2 | COMPLETED | Study Evaluating Intepirdine (RVT-101) in Subjects With Dementia With Lewy Bodies: The HEADWAY-DLB Study |
| NCT02702102 | PHASE2 | COMPLETED | Imaging Inflammation in Patients With Parkinson’s Disease Dementia or Dementia With Lewy Bodies |
| NCT02708186 | PHASE2 | COMPLETED | Study Evaluating Nelotanserin for Treatment of REM Sleep Behavior Disorder in Subjects With Dementia (DLB or PDD) |
| NCT02871427 | PHASE2 | TERMINATED | Open-label Study of Nelotanserin in Lewy Body Dementia With Visual Hallucinations or REM Sleep Behavior Disorder |
| NCT02910102 | PHASE2 | COMPLETED | Study Evaluating Intepirdine (RVT-101) on Gait and Balance in Subjects With Dementia |
Drugs tested across these trials (top 30)
- Cohort genes: SNCA, SNCB, GBA1, BCL7C, VCP, PARVB, PDLIM5, STX1B, ASH1L, VPS36, FRMD3, CTNND2, GARNL3, GON4L, SPHKAP, GNB5, IRF2, APOE, MYO7A
- Drugs: Donepezil, Memantine, Rivastigmine, Zoledronic Acid, IOFLUPANE I 123, Armodafinil, Bosutinib, Donanemab, FLORBETABEN F18, FLORBETAPIR F 18, FLUORODOPA F 18, Flutemetamol, Furosemide, Galantamine, Pimavanserin, Quetiapine, Ramelteon, Terazosin, Ambroxol, Intepirdine, FLORBENGUANE F18, Fosgonimeton, Microcrystalline Cellulose