RNASE4

Summary

RNASE4 (ribonuclease A family member 4, HGNC:10047) is a protein-coding gene on chromosome 14q11.2, encoding Ribonuclease 4 (P34096). Cleaves preferentially after uridine bases.

The protein encoded by this gene belongs to the pancreatic ribonuclease family. It plays an important role in mRNA cleavage and has marked specificity towards the 3’ side of uridine nucleotides. Alternative splicing results in four transcript variants encoding the same protein. This gene and the gene that encodes angiogenin share promoters and 5’ exons. Each gene splices to a unique downstream exon that contains its complete coding region.

Source: NCBI Gene 6038 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 13 total — 1 pathogenic
• MANE Select transcript: NM_002937

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10047
Approved symbol	RNASE4
Name	ribonuclease A family member 4
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	RAB1
Ensembl gene	ENSG00000258818
Ensembl biotype	protein_coding
OMIM	601030
Entrez	6038

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 19 protein_coding

ENST00000397995, ENST00000555597, ENST00000555835, ENST00000885366, ENST00000885367, ENST00000885368, ENST00000885369, ENST00000885370, ENST00000885371, ENST00000885372, ENST00000885373, ENST00000885374, ENST00000885375, ENST00000885376, ENST00000885377, ENST00000885378, ENST00000885379, ENST00000971275, ENST00000971276

RefSeq mRNA: 4 — MANE Select: NM_002937 NM_001282192, NM_001282193, NM_002937, NM_194431

CCDS: CCDS9555

Canonical transcript exons

ENST00000555835 — 2 exons

Exon	Start	End
ENSE00001553706	20699355	20701216
ENSE00002463106	20684560	20684758

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 98.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.1338 / max 92.4996, expressed in 1116 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
138454	26.3203	1619
138455	4.6713	21
138449	2.5498	982
138453	1.3171	696
138451	0.3491	129
138452	0.1286	45
138450	0.1063	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.42	gold quality
liver	UBERON:0002107	98.06	gold quality
calcaneal tendon	UBERON:0003701	97.79	gold quality
mucosa of stomach	UBERON:0001199	97.59	gold quality
left ovary	UBERON:0002119	97.44	gold quality
endocervix	UBERON:0000458	97.37	gold quality
ovary	UBERON:0000992	97.14	gold quality
right ovary	UBERON:0002118	97.11	gold quality
subcutaneous adipose tissue	UBERON:0002190	97.02	gold quality
gall bladder	UBERON:0002110	96.90	gold quality
descending thoracic aorta	UBERON:0002345	96.84	gold quality
adipose tissue	UBERON:0001013	96.64	gold quality
rectum	UBERON:0001052	96.57	gold quality
right coronary artery	UBERON:0001625	96.53	gold quality
thoracic mammary gland	UBERON:0005200	96.40	gold quality
tibial artery	UBERON:0007610	96.34	gold quality
popliteal artery	UBERON:0002250	96.33	gold quality
tibial nerve	UBERON:0001323	96.23	gold quality
omental fat pad	UBERON:0010414	96.19	gold quality
body of stomach	UBERON:0001161	95.93	gold quality
fundus of stomach	UBERON:0001160	95.85	gold quality
thoracic aorta	UBERON:0001515	95.76	gold quality
left uterine tube	UBERON:0001303	95.75	gold quality
ascending aorta	UBERON:0001496	95.70	gold quality
left coronary artery	UBERON:0001626	95.69	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.28	gold quality
body of uterus	UBERON:0009853	95.14	gold quality
stomach	UBERON:0000945	94.98	gold quality
prostate gland	UBERON:0002367	94.92	gold quality
vagina	UBERON:0000996	94.82	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	48.14
E-ANND-3	yes	39.59
E-MTAB-10287	yes	25.70
E-HCAD-1	yes	21.86
E-GEOD-81608	yes	14.96
E-GEOD-125970	no	7.06
E-HCAD-31	no	2.04

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR

miRNA regulators (miRDB)

53 targeting RNASE4, 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-12118	100.00	65.88	1270
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055

Literature-anchored findings (GeneRIF, showing 7)

• RNASE4 not only stimulates the formation of neurofilaments from mouse embryonic cortical neurons, but also protects hypothermia-induced degeneration (PMID:23143660)
• Data show that the transcription of angiogenin (ANG) and ribonuclease 4 (RNASE4) promoter is influenced by RNA polymerase III (Pol III) elements and could be differentially regulated by an intragenic CCCTC binding factor (CTCF)-dependent chromatin loop. (PMID:24659782)
• RNASE4, STAT3, and miRNA-124 may have a regulatory association with the pathological mechanisms in Huntington’s disease. (PMID:29328442)
• this is the first study to demonstrate that although rare and not yet clinically correlated, certain rare RNASE4 variants could cause ALS due to their loss-of-function characteristics and highlights the need to discover novel RNASE variants for a comprehensive understanding of structure-function-disease relationships and design effective therapeutics (PMID:30544007)
• Expression and function of human ribonuclease 4 in the kidney and urinary tract. (PMID:33818125)
• Ribonuclease 4 is associated with aggressiveness and progression of prostate cancer. (PMID:35752711)
• Ribonuclease 4 functions as an intestinal antimicrobial protein to maintain gut microbiota and metabolite homeostasis. (PMID:38987259)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rnasel3	ENSDARG00000036171
danio_rerio	rnasel2	ENSDARG00000043196
mus_musculus	Rnase4	ENSMUSG00000021876
rattus_norvegicus	Rnase4	ENSRNOG00000025625

Paralogs (12): RNASE1 (ENSG00000129538), RNASE7 (ENSG00000165799), RNASE2 (ENSG00000169385), RNASE3 (ENSG00000169397), RNASE6 (ENSG00000169413), RNASE8 (ENSG00000173431), RNASE11 (ENSG00000173464), RNASE10 (ENSG00000182545), RNASE9 (ENSG00000188655), RNASE13 (ENSG00000206150), ANG (ENSG00000214274), RNASE12 (ENSG00000258436)

Protein

Protein identifiers

Ribonuclease 4 — P34096 (reviewed: P34096)

All UniProt accessions (2): P34096, Q53XB4

UniProt curated annotations — full annotation on UniProt →

Function. Cleaves preferentially after uridine bases. Has antimicrobial activity against uropathogenic E.coli (UPEC). Probably contributes to urinary tract sterility.

Subcellular location. Secreted.

Tissue specificity. Expressed in the cortical and medullary tubules of the kidney, and in the transitional epithelium of the urinary bladder (at protein level).

Induction. Induced in response to insulin.

Similarity. Belongs to the pancreatic ribonuclease family.

RefSeq proteins (4): NP_001269121, NP_001269122, NP_002928, NP_919412 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001427	RNaseA	Family
IPR023411	RNaseA_AS	Active_site
IPR023412	RNaseA_domain	Domain
IPR036816	RNaseA-like_dom_sf	Homologous_superfamily

Pfam: PF00074

UniProt features (28 total): strand 6, binding site 6, disulfide bond 4, helix 4, active site 2, signal peptide 1, chain 1, modified residue 1, sequence variant 1, sequence conflict 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
1RNF	X-RAY DIFFRACTION	2.1
2RNF	X-RAY DIFFRACTION	2.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P34096-F1	92.57	0.78

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 (2): 40 (proton acceptor); 144 (proton donor)

Ligand- & substrate-binding residues (6): 35; 40; 68; 71; 72; 145

Post-translational modifications (1): 29

Disulfide bonds (4): 53–109, 67–120, 85–135, 92–99

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 302 (showing top): FXR_IR1_Q6, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, GOMF_NUCLEASE_ACTIVITY, BECKER_TAMOXIFEN_RESISTANCE_UP, GOLDRATH_IMMUNE_MEMORY, MENSE_HYPOXIA_UP, HNF1_Q6, LEE_LIVER_CANCER_CIPROFIBRATE_DN, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM

GO Biological Process (3): antibacterial humoral response (GO:0019731), defense response to Gram-positive bacterium (GO:0050830), defense response to bacterium (GO:0042742)

GO Molecular Function (6): nucleic acid binding (GO:0003676), ribonuclease A activity (GO:0004522), RNA nuclease activity (GO:0004540), hydrolase activity (GO:0016787), nuclease activity (GO:0004518), endonuclease activity (GO:0004519)

GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response to bacterium	2
nuclease activity	2
antimicrobial humoral response	1
defense response	1
response to bacterium	1
binding	1
RNA endonuclease activity	1
phosphorus-oxygen lyase activity	1
catalytic activity, acting on RNA	1
catalytic activity	1
catalytic activity, acting on a nucleic acid	1
cellular anatomical structure	1

Protein interactions and networks

STRING

252 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNASE4	RGPD8	O14715	398
RNASE4	A0A2R8YGN2	A0A2R8YGN2	377
RNASE4	TMEM101	Q96IK0	376
RNASE4	EDDM3A	Q14507	372
RNASE4	REXO4	Q9GZR2	323
RNASE4	LAD1	O00515	320
RNASE4	SH3BGR	P55822	287
RNASE4	EPX	P11678	286
RNASE4	IVNS1ABP	Q9Y6Y0	249
RNASE4	ERP44	Q9BS26	245
RNASE4	EPRS1	P07814	243
RNASE4	OR8U3	Q8NH85	226
RNASE4	PSMB5	P28074	223
RNASE4	RNASE11	Q8TAA1	223
RNASE4	FBXO3	Q9UK99	222
RNASE4	NDUFA12	Q9UI09	222

IntAct

9 interactions, top by confidence:

A	B	Type	Score
	LECT2	psi-mi:“MI:0915”(physical association)	0.400
APP	ESYT2	psi-mi:“MI:0914”(association)	0.350
NOTCH2	ZNF320	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
RNH1	DUSP11	psi-mi:“MI:0914”(association)	0.350
RNASE4	ECEL1	psi-mi:“MI:0914”(association)	0.350
RNH1	DDX3Y	psi-mi:“MI:0914”(association)	0.350
RNASE4	RNASEH1	psi-mi:“MI:0914”(association)	0.350

BioGRID (14): RNASE4 (Synthetic Growth Defect), RNASE4 (Affinity Capture-MS), ECEL1 (Affinity Capture-MS), RNASE4 (Affinity Capture-MS), LRP1B (Affinity Capture-MS), CD109 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), HLA-C (Affinity Capture-MS), VWDE (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), RNASE4 (Affinity Capture-MS), RNASE4 (Affinity Capture-MS), RNASE4 (Affinity Capture-MS)

ESM2 similar proteins: O46525, O46527, O46530, O55004, P00679, P03950, P07998, P08904, P15467, P15468, P21570, P31346, P31347, P34096, P61821, P61822, P81649, Q3TMQ6, Q5NVS4, Q5VI84, Q64438, Q71MJ0, Q861Y1, Q861Y2, Q861Y3, Q861Y4, Q861Y5, Q8HZQ0, Q8SPN4, Q8SPN5, Q8SPZ4, Q8SPZ5, Q8SQ04, Q8SQ05, Q8SQ06, Q8SQ07, Q8SQ08, Q8SQ09, Q8SQ11, Q8SQ12

Diamond homologs: A1YLB9, B3EWJ0, O18937, O35290, O35291, O35292, O46525, O46526, O46527, O46528, O46529, O46530, O46531, O46532, O46533, O46534, O55004, P00657, P00680, P00682, P00685, P03950, P08904, P10153, P12724, P15466, P15467, P15468, P16414, P24717, P34096, P47778, P47779, P47780, P47781, P47782, P47783, P47784, P47785, P47786

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	8
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
18076	NM_001097577.3(ANG):c.164G>A (p.Arg55Lys)	Pathogenic

SpliceAI

895 predictions. Top by Δscore:

Variant	Effect	Δscore
14:20699350:TCTA:T	acceptor_loss	0.9900
14:20699353:A:AC	acceptor_loss	0.9900
14:20699353:A:AG	acceptor_gain	0.9900
14:20699353:A:T	acceptor_loss	0.9900
14:20699353:AG:A	acceptor_gain	0.9900
14:20699354:G:GG	acceptor_gain	0.9900
14:20699354:G:GT	acceptor_gain	0.9900
14:20699354:GG:G	acceptor_gain	0.9900
14:20699354:GGC:G	acceptor_gain	0.9900
14:20699354:GGCAC:G	acceptor_gain	0.9900
14:20684687:G:GT	donor_gain	0.9800
14:20684693:GCGG:G	donor_gain	0.9800
14:20684755:CGAGG:C	donor_loss	0.9800
14:20684758:GGTA:G	donor_loss	0.9800
14:20684760:T:A	donor_loss	0.9800
14:20690898:C:CA	acceptor_gain	0.9800
14:20693541:CCGCA:C	acceptor_loss	0.9800
14:20693542:CGCA:C	acceptor_loss	0.9800
14:20693543:GCA:G	acceptor_loss	0.9800
14:20693544:CA:C	acceptor_loss	0.9800
14:20697848:A:AG	acceptor_gain	0.9800
14:20697849:G:GG	acceptor_gain	0.9800
14:20699354:GGCA:G	acceptor_gain	0.9800
14:20697943:GTTG:G	donor_gain	0.9700
14:20684757:AGG:A	donor_loss	0.9600
14:20684759:GTAG:G	donor_loss	0.9600
14:20689359:G:GT	donor_gain	0.9600
14:20693852:C:T	donor_gain	0.9600
14:20697849:GT:G	acceptor_gain	0.9600
14:20699340:T:A	acceptor_gain	0.9600

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000121524 (14:20700712 A>G), RS1000155177 (14:20683375 T>C,G), RS1000244219 (14:20692883 T>A), RS1000282480 (14:20692995 C>A), RS1000393623 (14:20686166 G>A), RS1000425114 (14:20694375 C>T), RS1000484011 (14:20689774 A>G), RS1000505744 (14:20698773 G>C), RS1000568174 (14:20683199 G>A), RS1000761974 (14:20684073 A>C,G), RS1000870343 (14:20686442 T>C,G), RS1001110952 (14:20684099 G>A,C,T), RS1001158046 (14:20696896 T>G), RS1001485697 (14:20691861 A>G), RS1001644004 (14:20697412 C>A)

Disease associations

OMIM: gene MIM:601030 | disease phenotypes: MIM:611895

GenCC curated gene-disease

Mondo (2): frontotemporal dementia (MONDO:0017276), amyotrophic lateral sclerosis type 9 (MONDO:0012753)

Orphanet (2): Frontotemporal dementia (Orphanet:282), Amyotrophic lateral sclerosis (Orphanet:803)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST005352_31	Paclitaxel disposition in epithelial ovarian cancer	2.000000e-06
GCST006585_1307	Blood protein levels	1.000000e-18

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D057180	Frontotemporal Dementia	C10.228.140.380.266.299; C10.574.950.300.299; C18.452.845.800.300.299; F03.615.400.380.299
C567499	Amyotrophic Lateral Sclerosis 9 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases expression, decreases methylation, affects cotreatment	8
Estradiol	affects cotreatment, increases expression, decreases expression, affects expression	4
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, decreases expression	4
Cyclosporine	increases expression, decreases expression	4
Nickel	decreases expression	2
Silicon Dioxide	decreases expression	2
OTX015	decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
propionaldehyde	decreases expression	1
bisphenol A	affects expression	1
trichostatin A	increases expression	1
cobaltous chloride	affects cotreatment, increases expression	1
butyraldehyde	decreases expression	1
lead chloride	affects cotreatment, increases expression	1
hydroquinone	decreases expression	1
cadmium sulfate	increases expression, affects cotreatment	1
ciglitazone	affects binding, increases expression	1
pentanal	decreases expression	1
avobenzone	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
ormosil	decreases expression, affects binding	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00376051	PHASE4	COMPLETED	Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia
NCT00950430	PHASE4	ENROLLING_BY_INVITATION	Imaging of Brain Amyloid Plaques in the Aging Population
NCT06093126	PHASE4	RECRUITING	Lemborexant for Insomnia in a Patient With Dementia: An N-of-1 Trial
NCT00594737	PHASE3	COMPLETED	Open Label Pilot Study of the Effects of Memantine on FDG-PET in Frontotemporal Dementia
NCT03682185	PHASE3	COMPLETED	The Healthy Patterns Sleep Study
NCT04374136	PHASE3	TERMINATED	A Phase 3 Study to Evaluate Efficacy and Safety of AL001 in Frontotemporal Dementia (INFRONT-3)
NCT00416169	PHASE2	COMPLETED	A Pilot Study to Explore the Safety and Tolerability of Galantamine HBr in the Treatment of Pick Complex/Frontotemporal Dementia
NCT01890343	PHASE2	COMPLETED	Imaging Characteristics of Florbetapir 18F in Patients With Frontotemporal Dementia, Alzheimer’s Disease and Normal Controls.
NCT01937013	PHASE2	COMPLETED	Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia
NCT02676843	PHASE2	COMPLETED	Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations
NCT02862210	PHASE2	COMPLETED	Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia
NCT03260920	PHASE2	UNKNOWN	Intranasal Oxytocin for Frontotemporal Dementia
NCT03987295	PHASE2	COMPLETED	A Phase 2 Study to Evaluate Safety of Long-term AL001 Dosing in Frontotemporal Dementia (FTD) Patients (INFRONT-2)
NCT04220021	PHASE2	ACTIVE_NOT_RECRUITING	Safety and Therapeutic Potential of the FDA-approved Drug Metformin for C9orf72 ALS/FTD
NCT04489017	PHASE2	COMPLETED	Palmitoylethanolamide Combined With Luteoline in Frontotemporal Dementia Patients. A Randomized Controlled Trial
NCT04937452	PHASE2	COMPLETED	Dopaminergic Therapy for Frontotemporal Dementia Patients
NCT04993755	PHASE2	COMPLETED	A Phase 2a Study of TPN-101 in Patients With C9ORF72 ALS/FTD
NCT05742698	PHASE2	RECRUITING	Nabilone for Agitation in Frontotemporal Dementia
NCT06604520	PHASE2	RECRUITING	Vortioxetine for the Treatment of Mood and Cognitive Symptoms in Frontotemporal Dementia
NCT07154485	PHASE2	NOT_YET_RECRUITING	Investigator Initiated Study for the Safety and Efficacy in Frontotemporal Dementia
NCT01386333	PHASE1	COMPLETED	Safety Study of Intranasal Oxytocin in Frontotemporal Dementia
NCT03040713	PHASE1	COMPLETED	Flortaucipir PET Imaging in Subjects With FTD
NCT03636204	PHASE1	COMPLETED	A First in Human Study in Healthy Volunteers and in Participants With Frontotemporal Dementia With Granulin (GRN) Mutation
NCT05315661	PHASE1	ACTIVE_NOT_RECRUITING	The Safety and The Efficacy Evaluation of ET-STEM in Patients With Frontotemporal Dementia
NCT06705192	PHASE1	COMPLETED	Study in Asymptomatic GRN-FTD Patients to Investigate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of VES001
NCT04408625	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Phase 1/2 Clinical Trial of LY3884963 in Patients With Frontotemporal Dementia With Progranulin Mutations (FTD-GRN)
NCT04747431	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study of PBFT02 in Participants With FTD and Mutations in the Granulin Precursor (GRN) or C9ORF72 Genes
NCT04931862	PHASE1/PHASE2	TERMINATED	Study of WVE-004 in Patients With C9orf72-associated Amyotrophic Lateral Sclerosis (ALS) or Frontotemporal Dementia (FTD)
NCT05262023	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of DNL593 in Healthy Participants and Participants With Frontotemporal Dementia (FTD-GRN)
NCT05374278	PHASE1/PHASE2	RECRUITING	First-in-Human Evaluation of an Astrocytic Glutamate Transporter (EAAT2) PET Tracer in Dementia
NCT05683860	PHASE1/PHASE2	TERMINATED	Open-label Extension (OLE) Study of WVE-004 in Patients With C9orf72-associated Amyotrophic Lateral Sclerosis (ALS) and/or Frontotemporal Dementia (FTD)
NCT06064890	PHASE1/PHASE2	RECRUITING	A Study to Evaluate the Safety and Effect of AVB-101, a Gene Therapy Product, in Subjects With a Genetic Sub-type of Frontotemporal Dementia (FTD-GRN)
NCT03510572	EARLY_PHASE1	COMPLETED	Evaluation of [18F]PI-2620 as a Potential Positron Emission Computed Tomography Radioligand for Imaging Tau Protein in the Brain
NCT03625128	EARLY_PHASE1	COMPLETED	18F-PM-PBB3 PET Study in Tauopathy Including Alzheimer’s Disease, Other Dementias and Normal Controls
NCT06891716	EARLY_PHASE1	RECRUITING	[18F]ACI-19626 PET in TDP-43 Proteinopathies
NCT00159198	Not specified	TERMINATED	Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
NCT00938665	Not specified	COMPLETED	Evaluation of a Handheld Event Related Potential (ERP)/Quantitative Electroencephalography (qEEG) System (COGNISION™) as a Useful Cognitive Biomarker for Alzheimer’s Disease.
NCT01002300	Not specified	COMPLETED	Oxytocin and Social Cognition in Frontotemporal Dementia
NCT01147679	Not specified	UNKNOWN	Study of Social Behavior and Emotion in Frontotemporal Dementia, Alzheimer’s Disease and Controls
NCT01353430	Not specified	RECRUITING	Characterization of Inclusion Body Myopathy Associated With Paget’s Disease of Bone and Frontotemporal Dementia (IBMPFD)