TXNDC17

gene
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Also known as MGC14353TRP14

Summary

TXNDC17 (thioredoxin domain containing 17, HGNC:28218) is a protein-coding gene on chromosome 17p13.1, encoding Thioredoxin domain-containing protein 17 (Q9BRA2). Disulfide reductase.

Enables peroxidase activity and protein-disulfide reductase [NAD(P)H] activity. Involved in tumor necrosis factor-mediated signaling pathway. Located in cytosol.

Source: NCBI Gene 84817 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 29 total — 1 pathogenic
  • Druggable target: yes
  • MANE Select transcript: NM_032731

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:28218
Approved symbolTXNDC17
Namethioredoxin domain containing 17
Location17p13.1
Locus typegene with protein product
StatusApproved
AliasesMGC14353, TRP14
Ensembl geneENSG00000129235
Ensembl biotypeprotein_coding
OMIM616967
Entrez84817

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 5 protein_coding, 5 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000250101, ENST00000570330, ENST00000571029, ENST00000571957, ENST00000573792, ENST00000574429, ENST00000574734, ENST00000574838, ENST00000576020, ENST00000577146, ENST00000939769, ENST00000939770

RefSeq mRNA: 1 — MANE Select: NM_032731 NM_032731

CCDS: CCDS11077

Canonical transcript exons

ENST00000250101 — 4 exons

ExonStartEnd
ENSE0000090531766410606641227
ENSE0000120434966429516644541
ENSE0000348280066422496642324
ENSE0000349119466417536641834

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 99.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 107.1867 / max 1059.0840, expressed in 1827 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
15905866.16141823
15905527.15511817
1590567.34581741
1590576.36431684
1590540.160184

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
pancreatic ductal cellCL:000207999.59gold quality
lower esophagus mucosaUBERON:003583499.35gold quality
esophagus mucosaUBERON:000246999.16gold quality
mucosa of transverse colonUBERON:000499199.00gold quality
oocyteCL:000002398.99gold quality
oral cavityUBERON:000016798.80gold quality
ileal mucosaUBERON:000033198.64gold quality
pharyngeal mucosaUBERON:000035598.62gold quality
kidney epitheliumUBERON:000481998.36gold quality
esophagus squamous epitheliumUBERON:000692098.33gold quality
duodenumUBERON:000211498.13gold quality
colonic mucosaUBERON:000031798.10gold quality
mucosa of sigmoid colonUBERON:000499397.96gold quality
rectumUBERON:000105297.88gold quality
jejunal mucosaUBERON:000039997.70gold quality
upper arm skinUBERON:000426397.55gold quality
right adrenal glandUBERON:000123397.48gold quality
adult mammalian kidneyUBERON:000008297.42gold quality
right adrenal gland cortexUBERON:003582797.23gold quality
islet of LangerhansUBERON:000000697.17gold quality
body of stomachUBERON:000116197.15gold quality
left adrenal glandUBERON:000123497.14gold quality
nasal cavity epitheliumUBERON:000538497.12gold quality
body of pancreasUBERON:000115097.08gold quality
left adrenal gland cortexUBERON:003582597.04gold quality
olfactory segment of nasal mucosaUBERON:000538697.02gold quality
secondary oocyteCL:000065596.97gold quality
gingivaUBERON:000182896.93gold quality
right lobe of liverUBERON:000111496.90gold quality
adrenal cortexUBERON:000123596.77gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 5.

ExperimentMarker?Max mean expression
E-MTAB-6653yes1477.69
E-HCAD-1yes282.19
E-CURD-114yes77.31
E-ANND-3yes19.05
E-MTAB-10042yes7.16
E-MTAB-8495no1655.57
E-GEOD-86618no1041.55
E-MTAB-7303no627.86

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

78 targeting TXNDC17, 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-3646100.0073.565283
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-450A-1-3P100.0069.331837
HSA-MIR-366299.9973.825684
HSA-MIR-453499.9966.581907
HSA-MIR-569699.9872.364487
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-365899.9673.874379
HSA-MIR-545-3P99.9570.742783
HSA-MIR-808299.9567.271170
HSA-MIR-6835-3P99.9370.492904
HSA-MIR-497-5P99.9271.832674
HSA-MIR-15A-5P99.9072.802787
HSA-MIR-15B-5P99.9072.782798
HSA-MIR-16-5P99.9072.802780
HSA-MIR-195-5P99.9072.812805
HSA-MIR-424-5P99.8971.902641
HSA-MIR-6838-5P99.8971.942690
HSA-MIR-612499.8769.783551
HSA-MIR-137-3P99.8774.742401
HSA-LET-7A-2-3P99.8770.531921
HSA-LET-7G-3P99.8570.431929
HSA-MIR-548F-3P99.8270.593540
HSA-MIR-4668-5P99.7970.583782
HSA-MIR-200A-5P99.7669.10949
HSA-MIR-200B-5P99.7669.05948
HSA-MIR-3934-3P99.7665.511351
HSA-MIR-548A-3P99.7670.583524
HSA-MIR-4677-5P99.7070.091940

Literature-anchored findings (GeneRIF, showing 9)

  • TRP14 is a thioredoxin-related protein with roles in tumor necrosis factor-alpha signaling pathways (PMID:14607843)
  • TRP14 is a thioredoxin-related protein of 14 kDa (PMID:14607844)
  • Data report the crystal structure of human thioredoxin-related protein 14 determined at 1.8-angstrom resolution. (PMID:15355959)
  • LC8 binds IkappaBalpha in a redox-dependent manner and thereby prevents its phosphorylation by IKK. TRP14 contributes to this inhibitory activity by maintaining LC8 in a reduced state. (PMID:18579519)
  • The oxidoreductase activities of TRP14 thereby complement those of Trx1 and must therefore be considered for the full understanding of enzymatic control of cellular thiols and nitrosothiols. (PMID:24778250)
  • TXNDC17, through participation of BECN1, induces autophagy and consequently results in paclitaxel resistance in ovarian cancer (PMID:25607466)
  • Cellular S-denitrosylases: Potential role and interplay of Thioredoxin, TRP14, and Glutaredoxin systems in thiol-dependent protein denitrosylation. (PMID:33359085)
  • TRP14 is the rate-limiting enzyme for intracellular cystine reduction and regulates proteome cysteinylation. (PMID:38811853)
  • In-Depth Proteomic Analysis of Paraffin-Embedded Tissue Samples from Colorectal Cancer Patients Revealed TXNDC17 and SLC8A1 as Key Proteins Associated with the Disease. (PMID:39441737)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_reriotxndc17ENSDARG00000058079
mus_musculusTxndc17ENSMUSG00000020803
rattus_norvegicusTxndc17ENSRNOG00000083034
drosophila_melanogasterclFBGN0000318
drosophila_melanogasterCG3939FBGN0040396
caenorhabditis_elegansWBGENE00022188

Protein

Protein identifiers

Thioredoxin domain-containing protein 17Q9BRA2 (reviewed: Q9BRA2)

Alternative names: 14 kDa thioredoxin-related protein, Protein 42-9-9, Thioredoxin-like protein 5

All UniProt accessions (5): Q9BRA2, A0A140VJY7, I3L0K2, I3L2R6, I3L3M7

UniProt curated annotations — full annotation on UniProt →

Function. Disulfide reductase. May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. Modulates TNF signaling and NF-kappa-B activation. Has peroxidase activity and may contribute to the elimination of cellular hydrogen peroxide.

Subunit / interactions. Interacts with TRXR1 and DYNLL1/DNCL1.

Subcellular location. Cytoplasm.

Tissue specificity. Ubiquitously expressed in cell lines.

Post-translational modifications. The oxidized protein is reduced by TRXR1.

Similarity. Belongs to the thioredoxin family.

RefSeq proteins (1): NP_116120* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR010357TXNDC17_domDomain
IPR036249Thioredoxin-like_sfHomologous_superfamily
IPR045108TXNDC17-likeFamily

Pfam: PF06110

Enzyme classification (BRENDA):

  • EC 1.8.1.6 — cystine reductase (BRENDA: 9 organisms, 7 substrates, 9 inhibitors, 5 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
L-CYSTINE0.0008–0.93

UniProt features (24 total): helix 7, strand 5, mutagenesis site 2, active site 2, site 2, initiator methionine 1, chain 1, turn 1, domain 1, modified residue 1, disulfide bond 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
1WOUX-RAY DIFFRACTION1.8

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9BRA2-F195.890.96

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 (4): 43 (nucleophile); 46 (nucleophile); 44 (contributes to redox potential value); 45 (contributes to redox potential value)

Post-translational modifications (1): 2

Disulfide bonds (1): 43–46

Mutagenesis-validated functional residues (2):

PositionPhenotype
46loss of peroxidase activity.
43loss of peroxidase activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 161 (showing top): GOBP_RESPONSE_TO_PEPTIDE, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, GOBP_DETOXIFICATION, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOBP_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY, RYTTCCTG_ETS2_B, GOMF_ANTIOXIDANT_ACTIVITY, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PEROXIDE_AS_ACCEPTOR, GOBP_RESPONSE_TO_TOXIC_SUBSTANCE, GOBP_RESPONSE_TO_TUMOR_NECROSIS_FACTOR, GOMF_DISULFIDE_OXIDOREDUCTASE_ACTIVITY, MODULE_49

GO Biological Process (2): tumor necrosis factor-mediated signaling pathway (GO:0033209), cellular oxidant detoxification (GO:0098869)

GO Molecular Function (3): peroxidase activity (GO:0004601), protein-disulfide reductase [NAD(P)H] activity (GO:0047134), protein binding (GO:0005515)

GO Cellular Component (3): cytosol (GO:0005829), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
cytokine-mediated signaling pathway1
cellular response to tumor necrosis factor1
cellular detoxification1
antioxidant activity1
oxidoreductase activity, acting on peroxide as acceptor1
protein-disulfide reductase activity1
oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor1
binding1
cytoplasm1
extracellular vesicle1
intracellular anatomical structure1

Protein interactions and networks

STRING

916 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TXNDC17TRPC7Q9HCX4772
TXNDC17TXNP10599724
TXNDC17TXNL1O43396688
TXNDC17TXNRD1Q16881579
TXNDC17NXNQ6DKJ4549
TXNDC17MBP02144506
TXNDC17F2RP25116463
TXNDC17TXN2Q99757432
TXNDC17NDUFAB1O14561423
TXNDC17GLRXP35754404
TXNDC17ATP5MKQ96IX5404
TXNDC17NDUFS5O43920396
TXNDC17ERCC6L2Q5T890395
TXNDC17AKR1A1P14550394
TXNDC17NDUFB6O95139389

IntAct

26 interactions, top by confidence:

ABTypeScore
EXOSC8TXNDC17psi-mi:“MI:0915”(physical association)0.720
TXNDC17EXOSC8psi-mi:“MI:0915”(physical association)0.720
RUFY1TXNDC17psi-mi:“MI:0915”(physical association)0.560
TXNDC17RUFY1psi-mi:“MI:0915”(physical association)0.560
INCA1TXNDC17psi-mi:“MI:0915”(physical association)0.560
TINF2TXNDC17psi-mi:“MI:0915”(physical association)0.510
TK2psi-mi:“MI:0915”(physical association)0.400
Cct4psi-mi:“MI:0914”(association)0.350
PRNPCARNS1psi-mi:“MI:0914”(association)0.350
PRNPWDR91psi-mi:“MI:0914”(association)0.350
LRRK2psi-mi:“MI:0914”(association)0.350
LMNACLIC1psi-mi:“MI:0914”(association)0.350
TXNDC17CLIC2psi-mi:“MI:0914”(association)0.350
VHLTXNDC17psi-mi:“MI:0915”(physical association)0.000
EPB41TXNDC17psi-mi:“MI:0915”(physical association)0.000
HLA-BTXNDC17psi-mi:“MI:0915”(physical association)0.000
TXNDC17TINF2psi-mi:“MI:0915”(physical association)0.000
TXNDC17EXOSC8psi-mi:“MI:0915”(physical association)0.000
TXNDC17INCA1psi-mi:“MI:0915”(physical association)0.000

BioGRID (71): TXNDC17 (Two-hybrid), TXNDC17 (Two-hybrid), NLRP5 (Co-fractionation), TXNDC17 (Co-fractionation), TXNDC17 (Co-fractionation), TXNDC17 (Co-fractionation), TXNDC17 (Affinity Capture-MS), TXNDC17 (Affinity Capture-MS), TXNDC17 (Affinity Capture-MS), TXNDC17 (Affinity Capture-RNA), INS (Biochemical Activity), OXT (Biochemical Activity), AVP (Biochemical Activity), DYNLL1 (Affinity Capture-MS), CFL1 (Affinity Capture-MS)

ESM2 similar proteins: A2VE14, A9CQL8, D3ZVR7, P22234, P51583, Q0VCJ8, Q0VD27, Q29RZ1, Q4R5H6, Q58CY6, Q5EA19, Q5F415, Q5H8A4, Q5NVN7, Q5R7S9, Q5RB59, Q5REA8, Q5RES2, Q5RFN0, Q5RKN4, Q5TM64, Q5VYX0, Q5XIC4, Q5ZIL9, Q5ZJB7, Q5ZMH6, Q67FW5, Q6AXQ0, Q6T311, Q86XW9, Q8BGB7, Q8BGR6, Q8BUH1, Q8BZI6, Q8MJJ1, Q8TBF2, Q8WWQ2, Q96MZ0, Q96NT3, Q9BRA2

Diamond homologs: A1L4T4, A2XCT8, A2Z7C4, A4HYT9, A7E4S9, A7Z3X7, A8N4R7, A8N4R8, A8WMD5, A8XHQ1, A8YMJ4, A9BVZ7, A9SCJ6, A9SDW6, A9SS00, A9VCM7, A9VFE2, B0JUK9, B0SFU6, B0SP94, B2VAA3, B3QG72, B7PRF6, C0NZU2, C3ZAH2, C4YCU0, C5WWY0, C5X1F5, C7Z9Z4, D3BH90, D5GE59, D7T737, E0W481, E3KY53, E9AIE8, E9EUE8, F6HDT7, F6QS54, F6W3G8, F7FKV1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance17
Likely benign0
Benign2

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
583807NC_000017.10:g.(?6328760)(6616672_?)delPathogenic

SpliceAI

665 predictions. Top by Δscore:

VariantEffectΔscore
17:6641179:GGTTC:Gdonor_gain1.0000
17:6641188:G:GTdonor_gain1.0000
17:6642242:C:CAacceptor_gain1.0000
17:6642247:A:AGacceptor_gain1.0000
17:6642247:AGTT:Aacceptor_gain1.0000
17:6642248:G:GTacceptor_gain1.0000
17:6642248:GTT:Gacceptor_gain1.0000
17:6642248:GTTG:Gacceptor_gain1.0000
17:6641180:GTTC:Gdonor_gain0.9900
17:6641181:TTCT:Tdonor_gain0.9900
17:6641226:GG:Gdonor_gain0.9900
17:6641227:GG:Gdonor_gain0.9900
17:6641830:CCTTA:Cdonor_gain0.9900
17:6642247:AGTTG:Aacceptor_gain0.9900
17:6642248:GTTGG:Gacceptor_gain0.9900
17:6641271:G:GTdonor_gain0.9800
17:6641750:A:Gacceptor_gain0.9800
17:6641751:A:AGacceptor_gain0.9800
17:6641752:G:GGacceptor_gain0.9800
17:6641835:G:GGdonor_gain0.9800
17:6642246:TA:Tacceptor_loss0.9800
17:6642320:GAACA:Gdonor_gain0.9800
17:6642325:G:GGdonor_gain0.9800
17:6641272:A:Tdonor_gain0.9700
17:6641352:TCCCC:Tdonor_gain0.9700
17:6641749:A:AGacceptor_gain0.9700
17:6642322:ACAG:Adonor_loss0.9700
17:6642323:CAGT:Cdonor_loss0.9700
17:6642324:AG:Adonor_loss0.9700
17:6642325:G:Adonor_loss0.9700

AlphaMissense

809 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:6641206:T:AW42R0.997
17:6641206:T:CW42R0.997
17:6641208:G:CW42C0.996
17:6641208:G:TW42C0.996
17:6642302:C:AP94H0.996
17:6641209:T:CC43R0.994
17:6642301:C:TP94S0.994
17:6641219:G:AC46Y0.993
17:6641814:C:GC69W0.993
17:6642299:T:AV93E0.993
17:6641220:C:GC46W0.992
17:6642276:A:CR85S0.992
17:6642276:A:TR85S0.992
17:6642308:T:AL96Q0.992
17:6642308:T:CL96P0.991
17:6642301:C:AP94T0.990
17:6641203:A:CS41R0.989
17:6641205:C:AS41R0.989
17:6641205:C:GS41R0.989
17:6641219:G:TC46F0.989
17:6641812:T:CC69R0.989
17:6642271:T:CF84L0.989
17:6642272:T:CF84S0.989
17:6642273:C:AF84L0.989
17:6642273:C:GF84L0.989
17:6642302:C:GP94R0.989
17:6642311:T:CL97P0.989
17:6641180:G:AG33D0.988
17:6641209:T:AC43S0.988
17:6641210:G:CC43S0.988

dbSNP variants (sampled 300 via entrez): RS1000365108 (17:6644143 G>A), RS1000788226 (17:6639355 G>A,C), RS1001333311 (17:6644781 C>A), RS1001380977 (17:6640174 G>A), RS1001413623 (17:6639900 A>G), RS1001418441 (17:6642229 C>T), RS1001814482 (17:6641049 T>A,C,G), RS1003390218 (17:6640261 G>T), RS1003424728 (17:6642490 T>A), RS1004982556 (17:6642805 T>A), RS1005988543 (17:6641227 G>C,T), RS1006010955 (17:6639761 T>C,G), RS1006957550 (17:6640575 C>A,T), RS1007464220 (17:6640800 A>G), RS1007623682 (17:6642366 G>A,C)

Disease associations

OMIM: gene MIM:616967 | disease phenotypes: MIM:604393, MIM:615905

GenCC curated gene-disease

Mondo (2): Leber congenital amaurosis 4 (MONDO:0011458), developmental and epileptic encephalopathy, 25 (MONDO:0014392)

Orphanet (1): Non-specific early-onset epileptic encephalopathy (Orphanet:442835)

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST009617_2LDL cholesterol levels x thiazide or thiazide-like diuretics use interaction1.000000e-07

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004611low density lipoprotein cholesterol measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
C565778Leber Congenital Amaurosis 4 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295935 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Vorinostatincreases expression3
Tobacco Smoke Pollutionaffects expression, decreases expression, increases expression3
bisphenol Adecreases expression, increases expression2
sodium arseniteincreases expression2
Air Pollutantsdecreases expression, increases abundance2
Valproic Acidincreases expression, increases methylation2
Cadmium Chlorideincreases expression2
Particulate Matterdecreases expression, increases abundance2
aristolochic acid Iincreases expression1
dicrotophosdecreases expression1
triphenyl phosphateaffects expression1
sodium arsenatedecreases expression1
pyrogallol 1,3-dimethyl etheraffects cotreatment, affects localization, decreases expression1
cobaltous chloridedecreases expression1
ochratoxin Aincreases expression1
di-n-butylphosphoric acidaffects expression1
K 7174decreases expression1
dimethylarsinous aciddecreases expression1
nutlin 3affects cotreatment, increases secretion1
bisphenol AFincreases expression1
Sunitinibdecreases expression1
Arsenic Trioxideaffects response to substance1
Atrazinedecreases expression1
Caffeinedecreases phosphorylation1
Cisplatinaffects binding, increases reaction1
Citrininincreases expression1
Dactinomycinaffects cotreatment, increases secretion1
Diazinonincreases methylation1
Diurondecreases expression1
Furaldehydeaffects cotreatment, increases expression1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL4232644BindingBinding affinity to TXNDC17 cysteine residue in human 786-O cell soluble proteomic lysate at 5 uM incubated for 1 hr followed by cell lysis by IA-alkyne probe based isoTOP-ABPP analysisCovalent inhibitors of nicotinamide N-methyltransferase (NNMT) provide evidence for target engagement challenges in situ. — Bioorg Med Chem Lett

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

CellosaurusNameCategorySex
CVCL_E2MXHAP1 TXNDC17 (-)Cancer cell lineMale

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT01773278PHASE2RECRUITINGCholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT06467344PHASE1/PHASE2RECRUITINGStudy to Evaluate ACDN-01 in ABCA4-related Stargardt Retinopathy (STELLAR)
NCT06789445PHASE1/PHASE2RECRUITINGA Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
NCT00427180Not specifiedUNKNOWNIRIS PILOT - Extended Pilot Study With a Retinal Implant System
NCT01864486Not specifiedCOMPLETEDRestoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy
NCT02435940Not specifiedRECRUITINGInherited Retinal Degenerative Disease Registry
NCT02670980Not specifiedCOMPLETEDCompensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy
NCT04658251Not specifiedTERMINATEDStudy of New Mutations in Cone Disorders
NCT05355415Not specifiedRECRUITINGAdaptive Optics Imaging of Outer Retinal Diseases
NCT06445322Not specifiedRECRUITINGPrescreening Study to Identify Potential Stargardt Participants for ACDN-01 Clinical Trials (STARPATH)
NCT07548944Not specifiedRECRUITINGObservational Study to Investigate the Short-term Effects of Transcorneal Electrical Stimulation on Visual Performance
NCT07102524PHASE1/PHASE2NOT_YET_RECRUITINGIntrathecal Gene Therapy For SLC13A5 Citrate Transporter Disorder
NCT04681781Not specifiedENROLLING_BY_INVITATIONSLC13A5 Deficiency Natural History Study - Remote Only
NCT06144957Not specifiedENROLLING_BY_INVITATIONSLC13A5 Deficiency Natural History Study - United States Only