DEFB103B

Summary

DEFB103B (defensin beta 103B, HGNC:31702) is a protein-coding gene on chromosome 8p23.1, encoding Beta-defensin 103 (P81534). Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative bacteria P.aeruginosa and E.coli and the yeast C.albicans.

Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103, which has broad spectrum antimicrobial activity and may play an important role in innate epithelial defense.

Source: NCBI Gene 55894 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 18 total — 1 pathogenic
• MANE Select transcript: NM_018661

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31702
Approved symbol	DEFB103B
Name	defensin beta 103B
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000177243
Ensembl biotype	protein_coding
OMIM	606611
Entrez	55894

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000318124

RefSeq mRNA: 1 — MANE Select: NM_018661 NM_018661

CCDS: CCDS34810

Canonical transcript exons

ENST00000318124 — 2 exons

Exon	Start	End
ENSE00001623163	7428888	7429129
ENSE00001665986	7430073	7430348

Expression profiles

Bgee: expression breadth broad, 23 present calls, max score 96.35.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	96.35	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
tonsil	UBERON:0002372	30.00	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
monocyte	CL:0000576	28.96	silver quality
leukocyte	CL:0000738	28.84	silver quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
blood	UBERON:0000178	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
uterine cervix	UBERON:0000002	26.07	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
ectocervix	UBERON:0012249	25.05	gold quality
esophagus mucosa	UBERON:0002469	24.73	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
fundus of stomach	UBERON:0001160	23.85	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.55

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DUX4, FOS, JUN

Literature-anchored findings (GeneRIF, showing 40)

• HBD-3 is a broad-spectrum, inducible cationic antimicrobial peptide expressed at mucosal surfaces including pulmonary epithelia, esophagus, skin, placenta and gingiva. May also act as a chemokine for adaptive immune cells. (PMID:11223260)
• HBD-3 is a dimer, while HBD-1 and HBD-2 are monomeric. Subsequently, the NMR solution structures of HBD1 and HBD3 were determined using standard homonuclear techniques and compared with the previously determined solution structure of HBD2 (PMID:11741980)
• important role in the innate oral epithelial host defense (PMID:12013554)
• Expression of mRNA is upregulated during differentation of keratinocyte immortalized cell lines. (PMID:12727027)
• expression pattern of hBD-3 mRNA by in situ hybridization in normal oral epithelium, leukoplakia, and lichen planus (PMID:12825122)
• disulfide bonding in hBD3, although required for binding and activation of receptors for chemotaxis, is fully dispensable for its antimicrobial function (PMID:12840147)
• human endometrium expresses both HBD3 and HBD4 in a cycle-dependent manner; these natural antimicrobials will contribute to innate defences present in human endometrium protecting against uterine infection (PMID:12892899)
• the level of expression of hBD-1 mRNA is lower and that of hBD-3 was higher than that of hBD-2 in reconstructed epidermis (PMID:14703118)
• Calcium triggers beta-defensin (hBD-2 and hBD-3) and chemokine macrophage inflammatory protein-3 alpha (MIP-3alpha/CCL20) expression in monolayers of activated human keratinocytes (PMID:14714554)
• Expression of HBD-3 was detected only in areas adjacent to squamous cell carcinomas (PMID:14981906)
• The expression of HBD3 and two other beta defensins was correlated with induction profiles in gingival keratinocytes. (PMID:15829297)
• beta-defensin 3 (HBD-3) is a multifunctional antimicrobial peptide with the ability to link host defense mechanisms and inflammation with tissue-remodeling processes in articular cartilage. (PMID:15934078)
• Human beta defensin-3 activates normal human keratinocytes to secrete IL-18 (PMID:16034119)
• results demonstrate that antimicrobial activity & absence of cytotoxicity can be explained by lipid-specificity of hBD3; clear correlation between these aspects of biological activity of hBD3 & its interaction with lipid matrices could be found. (PMID:16634647)
• hyphal-invasion-dependent inhibition of defensin expression in oral epithelium that undermines the host surveillance system represents a hitherto undescribed novel pathogenic mechanism of C. albicans (PMID:16741514)
• hBD-3 is strongly induced in human skin wounds (PMID:16778986)
• Recombinant human beta-defensin 3 induces internalization of HIV-1 coreceptor CXCR4 without promoting calcium flux, ERK-1/2 phosphorylation, or chemotaxis. (PMID:16818731)
• The gene expression of hBD-3 in primary human keratinocytes upon contact with S. aureus was studied. (PMID:16954397)
• Our results suggest that like hBD-2, hBD-3 may be involved in the pathophysiology of H. pylori-induced gastritis. (PMID:17007044)
• deficiency in human beta defensin-3 expression is an acquired rather than a constitutive defect (PMID:17015038)
• As compared to healthy controls, skin of patients with mycosis fungoides (non-lesional and lesional) and atopic dermatitis patients showed significantly lower hBD-1 mRNA expression and significantly higher hBD-2 and hBD-3 mRNA expression. (PMID:17415576)
• Blocking peptide binding of HBD3 inhibited killing of the bacteria, indicating an essential role for beta-defensin 3 in the constitutive killing of bacteria by normal keratinocytes. (PMID:17460726)
• activation of NF-kappaB by hBD-3 depends on the expression of both TLR1 and TLR2 (PMID:18006661)
• both hBD3 and mBD14 were chemotactic for freshly isolated mouse resident peritoneal cells. Thus, mBD14, based on structural and functional similarities, appears to be an orthologue of hBD3. (PMID:18167348)
• chemoattractant and antimicrobial activities of beta-defensins can be separated, and both of these functions are independent of intramolecular disulfide bonds (PMID:18180295)
• Results describe the relationship between human beta-defensin 3 (hBD3) expression and mean histamine concentration in human placental tissue. (PMID:18345484)
• Results indicate that lipopolysaccharide-induced activation of Toll-like receptor 4 in chorioamnionitis triggers increased production of beta-defensin 3. (PMID:18345485)
• p21, a cyclin-dependent kinase inhibitor downstream of S100/A11, is required for calcium-mediated induction of HBD-3 and filaggrin. (PMID:18385759)
• Francisella tularensis LVS infection has no effect on the level of hBD-3 in airway epithelial cells. (PMID:18452706)
• Patients with atopic dermatitis have problems with S. aureus skin infection. This is a result of increased levels of T(H)2 cytokines, which inhibit keratinocyte mobilization of HBD-3. (PMID:18538383)
• expression was found even in non-inflamed pseudocysts such as mucoceles (PMID:18627502)
• HBD3 binds recombinant hemagglutinin B (rHagB), a non-fimbrial adhesin from Porphyromonas gingivalis and this interaction may be an important initial step to attenuate a pro-inflammatory cytokine response and an ERK 1/2 response. (PMID:18711400)
• bacterial induction of HBD-3 via TLR-2 and -4 in bone (PMID:18925411)
• Results describe a reaction mechanism to elucidate the oxidation results of two linear cysteine-containing peptide analogues of human beta-defensin 3. (PMID:19108000)
• Increased expression of beta-defensin 3 is associated with oral squamous cell carcinomas. (PMID:19219676)
• Results indicate that in addition to the number of positively charged residues and hydrophobic residues, the arrangement of these residues in the 3-D space is important to the antimicrobial selectivity and salt-dependent activity beta defensins. (PMID:19480463)
• no association of amniotic fluid HBD3 with preterm birth (PMID:19554343)
• Results describe the structures of three C-terminal (R36-K45) analogues of human beta-defensin-3 as studied by 1H NMR spectroscopy and extensive molecular dynamics simulations. (PMID:19580334)
• differential modulation of expression in gingival epithelia by Porphyromonas gingivalis lipopolysaccharide isoforms (PMID:19675119)
• The ability to be induced was significantly reduced in OSCC. (PMID:19702947)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb14	ENSMUSG00000046354
rattus_norvegicus	Defb14	ENSRNOG00000032304

Paralogs (1): DEFB103A (ENSG00000176797)

Protein

Protein identifiers

Beta-defensin 103 — P81534 (reviewed: P81534)

Alternative names: Beta-defensin 3, Defensin, beta 103, Defensin-like protein

All UniProt accessions (2): P81534, A0A894JZ42

UniProt curated annotations — full annotation on UniProt →

Function. Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative bacteria P.aeruginosa and E.coli and the yeast C.albicans. Kills multiresistant S.aureus and vancomycin-resistant E.faecium. No significant hemolytic activity was observed.

Subcellular location. Secreted.

Tissue specificity. Highly expressed in skin and tonsils, and to a lesser extent in trachea, uterus, kidney, thymus, adenoid, pharynx and tongue. Low expression in salivary gland, bone marrow, colon, stomach, polyp and larynx. No expression in small intestine.

Induction. By bacterial infection and by IFNG/IFN-gamma.

Similarity. Belongs to the beta-defensin family.

RefSeq proteins (1): NP_061131* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001855	Defensin_beta-like	Domain

Pfam: PF00711

UniProt features (12 total): strand 4, disulfide bond 3, signal peptide 1, peptide 1, sequence conflict 1, turn 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1KJ6	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P81534-F1	85.23	0.42

Functional residue map

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

Disulfide bonds (3): 33–62, 40–55, 45–63

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1461957	Beta defensins
R-HSA-1461973	Defensins

MSigDB gene sets: 40 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_CELL_CHEMOTAXIS, GOBP_TAXIS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_HUMORAL_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_GRAM_NEGATIVE_BACTERIUM, GOBP_DEFENSE_RESPONSE_TO_GRAM_POSITIVE_BACTERIUM, GOMF_G_PROTEIN_COUPLED_RECEPTOR_BINDING, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERACTION_WITH_SYMBIONT, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_CELL_KILLING, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, GOBP_POSITIVE_CHEMOTAXIS

GO Biological Process (9): killing of cells of another organism (GO:0031640), defense response to bacterium (GO:0042742), defense response to Gram-negative bacterium (GO:0050829), defense response to Gram-positive bacterium (GO:0050830), obsolete killing by host of symbiont cells (GO:0051873), cell chemotaxis (GO:0060326), defense response (GO:0006952), positive chemotaxis (GO:0050918), defense response to symbiont (GO:0140546)

GO Molecular Function (3): CCR6 chemokine receptor binding (GO:0031731), chemoattractant activity (GO:0042056), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi lumen (GO:0005796)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Defensins	1
Antimicrobial peptides	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response to bacterium	2
chemotaxis	2
cell killing	1
disruption of cell in another organism	1
defense response	1
response to bacterium	1
cell migration	1
cellular response to chemical stimulus	1
response to stress	1
defense response to other organism	1
CCR chemokine receptor binding	1
receptor ligand activity	1
positive chemotaxis	1
binding	1
cellular anatomical structure	1
Golgi apparatus	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

704 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB103B	CCR6	P51684	976
DEFB103B	CCR2	P41597	971
DEFB103B	DEFB104A	Q8WTQ1	967
DEFB103B	CCRL2	O00421	967
DEFB103B	DEFB1	P60022	953
DEFB103B	CXCR4	P30991	912
DEFB103B	DEFB105A	Q8NG35	880
DEFB103B	CAMP	P49913	873
DEFB103B	DEFB106A	Q8N104	861
DEFB103B	S100A7	P31151	849
DEFB103B	SLPI	P03973	837
DEFB103B	A0A0G2JN59	A0A0G2JN59	823
DEFB103B	ASIP	P42127	800
DEFB103B	RNASE7	P80927	790
DEFB103B	LCN2	P30150	770
DEFB103B	DEFB107A	Q8IZN7	770

IntAct

34 interactions, top by confidence:

A	B	Type	Score
DEFB103A	SPATA31A7	psi-mi:“MI:0915”(physical association)	0.560
	DEFB103A	psi-mi:“MI:0915”(physical association)	0.560
TMPRSS2	DEFB103A	psi-mi:“MI:0915”(physical association)	0.560
DEFB103A	B3GALT5	psi-mi:“MI:0915”(physical association)	0.560
DEFB103A	EBP	psi-mi:“MI:0915”(physical association)	0.560
DEFB103A	SSMEM1	psi-mi:“MI:0915”(physical association)	0.560
DEFB103A	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
DEFB103A	SCN3B	psi-mi:“MI:0915”(physical association)	0.560
DEFB103A	ODF4	psi-mi:“MI:0915”(physical association)	0.560
DEFB103A	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
DEFB103A	AQP6	psi-mi:“MI:0915”(physical association)	0.560
SPATA31A7	DEFB103A	psi-mi:“MI:0915”(physical association)	0.000
DEFB103A		psi-mi:“MI:0915”(physical association)	0.000
DEFB103A	TMPRSS2	psi-mi:“MI:0915”(physical association)	0.000
B3GALT5	DEFB103A	psi-mi:“MI:0915”(physical association)	0.000
DEFB103A	EBP	psi-mi:“MI:0915”(physical association)	0.000
DEFB103A	SSMEM1	psi-mi:“MI:0915”(physical association)	0.000
DEFB103A	ERGIC3	psi-mi:“MI:0915”(physical association)	0.000
DEFB103A	SCN3B	psi-mi:“MI:0915”(physical association)	0.000
DEFB103A	ODF4	psi-mi:“MI:0915”(physical association)	0.000
DEFB103A	TMEM14B	psi-mi:“MI:0915”(physical association)	0.000
DEFB103A	AQP6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (27): DEFB103A (Reconstituted Complex), DEFB103B (Reconstituted Complex), XOG1 (Reconstituted Complex), XOG1 (Reconstituted Complex), DEFB103A (Two-hybrid), DEFB103B (Two-hybrid), DEFB103A (Two-hybrid), DEFB103B (Two-hybrid), DEFB103A (Two-hybrid), DEFB103B (Two-hybrid), DEFB103A (Two-hybrid), DEFB103B (Two-hybrid), DEFB103A (Two-hybrid), DEFB103B (Two-hybrid), DEFB103A (Two-hybrid)

ESM2 similar proteins: A0A7G6KN55, A3RJ36, A4H1Z9, A4H200, A4H202, A4H203, A4H204, O02775, O15263, O19038, O19039, O62697, O88514, O89117, O97946, P0C8A6, P0C8A7, P25068, P46156, P46157, P46161, P46162, P46163, P46165, P46167, P46168, P46169, P56386, P80391, P81534, P82019, P83943, Q0E4V3, Q28880, Q32ZH7, Q32ZI0, Q32ZI3, Q32ZI4, Q6IV23, Q6IV26

Diamond homologs: A3RJ36, A4H200, O02775, O15263, O18815, O19038, O19039, O62697, O88514, O97946, P25068, P46159, P46160, P46161, P46162, P46163, P46164, P46165, P46166, P46167, P46168, P46169, P46170, P46171, P81534, P83943, P85150, Q0W9P9, Q28880, Q32ZI3, Q32ZI4, Q6QLR1, Q91V70, Q91V82, Q91VD6, Q95JD2, Q9BDS9, Q9TT12, Q9WTL0, A4H1Z9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	17

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
974794	GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1	Pathogenic

SpliceAI

84 predictions. Top by Δscore:

Variant	Effect	Δscore
8:7429130:C:CC	acceptor_gain	0.9800
8:7429130:CTG:C	acceptor_loss	0.9800
8:7430067:TCTTA:T	donor_loss	0.9800
8:7430068:CTTA:C	donor_loss	0.9800
8:7430069:TTA:T	donor_loss	0.9800
8:7430070:TAC:T	donor_loss	0.9800
8:7430072:C:CG	donor_loss	0.9800
8:7429126:TGAC:T	acceptor_gain	0.9700
8:7429131:T:G	acceptor_loss	0.9700
8:7429127:GAC:G	acceptor_gain	0.9600
8:7429135:A:AC	acceptor_gain	0.9600
8:7429139:C:CT	acceptor_gain	0.9600
8:7430132:G:C	donor_gain	0.9400
8:7429125:ATGAC:A	acceptor_gain	0.9300
8:7429145:A:T	acceptor_gain	0.9300
8:7429128:AC:A	acceptor_gain	0.9200
8:7429129:CC:C	acceptor_gain	0.9200
8:7429133:C:CT	acceptor_gain	0.9100
8:7429140:A:T	acceptor_gain	0.9100
8:7429134:A:T	acceptor_gain	0.9000
8:7430124:T:TA	donor_gain	0.9000
8:7429135:A:C	acceptor_gain	0.8300
8:7430066:ATCTT:A	donor_loss	0.8200
8:7430071:A:AC	donor_gain	0.8100
8:7430072:C:CC	donor_gain	0.8100
8:7429144:C:CT	acceptor_gain	0.7900
8:7429147:C:CT	acceptor_gain	0.7800
8:7430143:TC:T	donor_gain	0.7200
8:7429130:C:A	acceptor_gain	0.6200
8:7429131:T:C	acceptor_gain	0.6000

AlphaMissense

420 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001577733 (8:7432017 C>T), RS1007465809 (8:7428745 T>A,C), RS1011319068 (8:7431889 T>TA), RS1017977123 (8:7428843 A>T), RS1021279246 (8:7430645 T>A), RS1021833074 (8:7431930 G>A), RS1031480516 (8:7429016 G>A), RS1035380534 (8:7432073 A>G), RS1037210537 (8:7428544 G>A), RS1041061460 (8:7431635 A>C,G), RS1048370748 (8:7428690 A>C,G,T), RS1048988467 (8:7431499 G>A), RS1052866628 (8:7431796 A>G), RS1157734548 (8:7431950 A>G), RS1157968155 (8:7428410 A>C)

Disease associations

OMIM: gene MIM:606611 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): cerebellar ataxia (MONDO:0000437), intellectual disability (MONDO:0001071)

Orphanet (2): Rare ataxia (Orphanet:102002), 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 (2)

Descriptor	Name	Tree numbers
D002524	Cerebellar Ataxia	C10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression	1
Copper	affects binding, decreases expression	1
Disulfiram	affects binding, decreases expression	1
Plant Oils	increases expression	1
Valproic Acid	increases methylation	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00950196	PHASE4	COMPLETED	Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia
NCT04107740	PHASE4	COMPLETED	C-Trelin Orally Disintegrated(OD) Tablet 5mg in Ataxia Due to Spinocerebellar Degeneration
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
NCT01970098	PHASE3	COMPLETED	A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970111	PHASE3	COMPLETED	An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970124	PHASE3	COMPLETED	A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970137	PHASE3	COMPLETED	A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT02889302	PHASE3	COMPLETED	An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT03408080	PHASE3	ACTIVE_NOT_RECRUITING	Open Pilot Trial of BHV-4157
NCT03701399	PHASE3	ACTIVE_NOT_RECRUITING	Troriluzole in Adult Participants With Spinocerebellar Ataxia
NCT03901638	PHASE3	TERMINATED	Tllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy
NCT07040137	PHASE3	RECRUITING	Confirmatory Study 3 of KPS-0373 in Patients With Spinocerebellar Degeneration
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
NCT00034242	PHASE2	COMPLETED	High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration
NCT00202397	PHASE2	COMPLETED	Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia
NCT00863538	PHASE2	COMPLETED	Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01004016	PHASE2	COMPLETED	A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01350440	PHASE2	COMPLETED	Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia
NCT02540655	PHASE2	COMPLETED	Efficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia
NCT03932669	PHASE2	COMPLETED	Effect of Nilotinib in Cerebellar Ataxia Patients
NCT04301284	PHASE2	WITHDRAWN	Study of CAD-1883 for Spinocerebellar Ataxia
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