TFPT

gene
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Also known as FB1amidaINO80F

Summary

TFPT (TCF3 fusion partner, HGNC:13630) is a protein-coding gene on chromosome 19q13.42, encoding TCF3 fusion partner (P0C1Z6). Appears to promote apoptosis in a p53/TP53-independent manner.

Predicted to enable DNA binding activity. Involved in several processes, including apoptotic signaling pathway; chromatin remodeling; and regulation of nucleobase-containing compound metabolic process. Located in nucleoplasm. Part of Ino80 complex.

Source: NCBI Gene 29844 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 62 total
  • MANE Select transcript: NM_013342

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:13630
Approved symbolTFPT
NameTCF3 fusion partner
Location19q13.42
Locus typegene with protein product
StatusApproved
AliasesFB1, amida, INO80F
Ensembl geneENSG00000105619
Ensembl biotypeprotein_coding
OMIM609519
Entrez29844

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 nonsense_mediated_decay

ENST00000391757, ENST00000391758, ENST00000391759, ENST00000420715, ENST00000911296, ENST00000911297

RefSeq mRNA: 2 — MANE Select: NM_013342 NM_001321792, NM_013342

CCDS: CCDS12878, CCDS82396

Canonical transcript exons

ENST00000391759 — 6 exons

ExonStartEnd
ENSE000008561315411005154110121
ENSE000015096695411524754115657
ENSE000035589945410802654108244
ENSE000035951375411444254114700
ENSE000036148405410702054107169
ENSE000036236365410832654108395

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 96.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.3944 / max 129.3115, expressed in 1796 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
1825906.02801736
1825894.07081639
1825882.29571143

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
amygdalaUBERON:000187696.24gold quality
temporal lobeUBERON:000187196.21gold quality
prefrontal cortexUBERON:000045195.82gold quality
anterior cingulate cortexUBERON:000983595.72gold quality
Ammon’s hornUBERON:000195495.23gold quality
frontal cortexUBERON:000187095.11gold quality
dorsolateral prefrontal cortexUBERON:000983495.01gold quality
cerebral cortexUBERON:000095694.85gold quality
Brodmann (1909) area 9UBERON:001354094.74gold quality
right frontal lobeUBERON:000281094.39gold quality
substantia nigraUBERON:000203893.96gold quality
putamenUBERON:000187493.40gold quality
hypothalamusUBERON:000189893.36gold quality
superior frontal gyrusUBERON:000266192.85gold quality
nucleus accumbensUBERON:000188292.48gold quality
caudate nucleusUBERON:000187392.29gold quality
brainUBERON:000095592.17gold quality
primary visual cortexUBERON:000243691.32gold quality
C1 segment of cervical spinal cordUBERON:000646990.34gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099189.49gold quality
granulocyteCL:000009489.26gold quality
right hemisphere of cerebellumUBERON:001489088.86gold quality
apex of heartUBERON:000209888.77gold quality
cerebellumUBERON:000203788.72gold quality
cerebellar hemisphereUBERON:000224588.71gold quality
cerebellar cortexUBERON:000212988.67gold quality
mucosa of transverse colonUBERON:000499188.48gold quality
prostate glandUBERON:000236788.17gold quality
olfactory segment of nasal mucosaUBERON:000538687.38gold quality
spleenUBERON:000210686.88gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes3.32
E-GEOD-75367no50.34

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

TargetRegulation
EAF1Unknown
EAF2Repression

Upstream regulators (CollecTRI, top): TCF3

Literature-anchored findings (GeneRIF, showing 4)

  • Although p53 is a main regulator of apoptosis in mammalian cells, the Tfpt induced apoptosis appears p53-independent. (PMID:17041757)
  • FB1 is an important binding partner and a functional regulator of U19/EAF2, EAF1, and/or ELL. (PMID:17395368)
  • Characterization of the core promoters controlling the expression of PRPF31 and TFPT, a bi-directional gene-pair. (PMID:22723017)
  • TCF3/E2A is Conserved Specific Coregulators of the p21:PUMA Expression Ratio. (PMID:23684607)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusTfptENSMUSG00000006335
rattus_norvegicusTfptENSRNOG00000056098

Protein

Protein identifiers

TCF3 fusion partnerP0C1Z6 (reviewed: P0C1Z6)

Alternative names: INO80 complex subunit F, Protein FB1

All UniProt accessions (3): P0C1Z6, A8MTQ3, F8WDC1

UniProt curated annotations — full annotation on UniProt →

Function. Appears to promote apoptosis in a p53/TP53-independent manner. Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.

Subunit / interactions. Interacts with NOL3; translocates NOL3 into the nucleus and negatively regulated TFPT-induced cell death. Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the N-terminus of INO80.

Subcellular location. Nucleus.

Disease relevance. A chromosomal aberration involving TFPT is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Inversion inv(19)(p13;q13) with TCF3.

Isoforms (2)

UniProt IDNamesCanonical?
P0C1Z6-11yes
P0C1Z6-22

RefSeq proteins (2): NP_001308721, NP_037474* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR033555TFPTFamily
IPR056513INO80FDomain

Pfam: PF24245

UniProt features (14 total): modified residue 7, region of interest 3, chain 1, cross-link 1, splice variant 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P0C1Z6-F167.810.30

Functional residue map

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

Post-translational modifications (8): 249, 252, 216, 167, 172, 180, 188, 207

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

IDPathway
R-HSA-5689603UCH proteinases
R-HSA-5696394DNA Damage Recognition in GG-NER
R-HSA-392499Metabolism of proteins
R-HSA-5688426Deubiquitination
R-HSA-5696398Nucleotide Excision Repair
R-HSA-5696399Global Genome Nucleotide Excision Repair (GG-NER)
R-HSA-597592Post-translational protein modification
R-HSA-73894DNA Repair

MSigDB gene sets: 160 (showing top): GOBP_CHROMOSOME_ORGANIZATION, RRAGTTGT_UNKNOWN, GOZGIT_ESR1_TARGETS_DN, GOBP_TELOMERE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_DNA_REPAIR, GOBP_REGULATION_OF_TELOMERE_MAINTENANCE, GOBP_APOPTOTIC_SIGNALING_PATHWAY, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_DNA_STRAND_ELONGATION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_DNA_REPAIR, LIAO_METASTASIS

GO Biological Process (17): telomere maintenance (GO:0000723), regulation of DNA replication (GO:0006275), DNA repair (GO:0006281), regulation of DNA repair (GO:0006282), DNA recombination (GO:0006310), chromatin remodeling (GO:0006338), regulation of chromosome organization (GO:0033044), positive regulation of apoptotic process (GO:0043065), positive regulation of DNA repair (GO:0045739), positive regulation of DNA-templated transcription (GO:0045893), regulation of embryonic development (GO:0045995), regulation of cell cycle (GO:0051726), regulation of DNA strand elongation (GO:0060382), apoptotic signaling pathway (GO:0097190), positive regulation of telomere maintenance in response to DNA damage (GO:1904507), apoptotic process (GO:0006915), DNA damage response (GO:0006974)

GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Ino80 complex (GO:0031011)

Reactome top-level categories

Rollup of top-6 pathways:

CategoryPathways
Deubiquitination1
Global Genome Nucleotide Excision Repair (GG-NER)1
Post-translational protein modification1
DNA Repair1
Nucleotide Excision Repair1
Metabolism of proteins1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
DNA metabolic process3
regulation of DNA metabolic process3
DNA repair2
apoptotic process2
positive regulation of response to stimulus2
cellular anatomical structure2
telomere organization1
DNA replication1
DNA damage response1
regulation of cellular response to stress1
chromatin organization1
regulation of organelle organization1
chromosome organization1
regulation of apoptotic process1
positive regulation of programmed cell death1
regulation of DNA repair1
positive regulation of DNA metabolic process1
DNA-templated transcription1
regulation of DNA-templated transcription1
positive regulation of RNA biosynthetic process1
embryo development1
regulation of multicellular organismal development1
cell cycle1
regulation of cellular process1
DNA strand elongation1
signal transduction1
positive regulation of telomere maintenance1
telomere maintenance in response to DNA damage1
regulation of telomere maintenance in response to DNA damage1
programmed cell death1
apoptotic signaling pathway1
execution phase of apoptosis1
cellular response to stress1
nucleic acid binding1
binding1
intracellular membrane-bounded organelle1
nuclear lumen1
intracellular anatomical structure1
nuclear chromosome1
INO80-type complex1

Protein interactions and networks

STRING

1252 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TFPTPRPF31Q8WWY3839
TFPTTCF3P15883823
TFPTINO80EQ8NBZ0783
TFPTHLFQ16534698
TFPTNFRKBQ6P4R8617
TFPTNDUFA3O95167603
TFPTSRPX2O60687590
TFPTPBX1P40424574
TFPTTLE2Q04725559
TFPTTLE6Q9H808549
TFPTA0A087WTN9A0A087WTN9549
TFPTIKZF1Q13422546
TFPTCCNDBP1O95273532
TFPTBTBD19C9JJ37527
TFPTLENG1Q96BZ8504

IntAct

153 interactions, top by confidence:

ABTypeScore
RUVBL1ZNHIT1psi-mi:“MI:0914”(association)0.860
TFPTTPM3psi-mi:“MI:0915”(physical association)0.850
TPM3TFPTpsi-mi:“MI:0915”(physical association)0.850
UCHL5PSMD11psi-mi:“MI:0914”(association)0.840
YY1ACTL6Apsi-mi:“MI:0914”(association)0.830
CCNDBP1RPLP0psi-mi:“MI:0914”(association)0.800
INO80ETFPTpsi-mi:“MI:0914”(association)0.790
TFPTUCHL5psi-mi:“MI:0915”(physical association)0.770
TFPTCCNDBP1psi-mi:“MI:0915”(physical association)0.740
CCNDBP1TFPTpsi-mi:“MI:0915”(physical association)0.740
YY1TFPTpsi-mi:“MI:0914”(association)0.740
RUVBL2POLR3Apsi-mi:“MI:0914”(association)0.640
RUVBL1POLR3Apsi-mi:“MI:0914”(association)0.640
LRRC46TFPTpsi-mi:“MI:0914”(association)0.640
INO80EACTL6Apsi-mi:“MI:0914”(association)0.640

BioGRID (234): TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), TFPT (Two-hybrid), CDCA7L (Two-hybrid), RPGRIP1 (Two-hybrid), HAUS1 (Two-hybrid), DYDC1 (Two-hybrid)

ESM2 similar proteins: A0A1B0GUS0, A0A5F9ZHS7, A7E346, A7MB34, A8MZG2, B2RU40, D4A9R4, O08574, O75593, P0C1Z6, P0CG20, Q0VG99, Q0ZCJ7, Q17QH7, Q29RM2, Q2KIS6, Q2M2S6, Q2M3G4, Q2NL68, Q32LE6, Q3U1J1, Q5JXC2, Q5R815, Q5SW24, Q61660, Q63247, Q6NZ36, Q6PBC9, Q6ZN01, Q6ZRI6, Q7TN08, Q7Z591, Q80VF6, Q86WR7, Q8BG26, Q8BP99, Q8BXQ8, Q8IYS4, Q8N9Y4, Q8NAV2

Diamond homologs: P0C1Z6, Q17QH7, Q3U1J1, Q9JMG6

SIGNOR signaling

1 interactions.

AEffectBMechanism
TFPT“form complex”“INO80 complex”binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 95 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Global Genome Nucleotide Excision Repair (GG-NER)751.6×6e-09
DNA Damage Recognition in GG-NER836.8×6e-09
Nucleotide Excision Repair732.2×2e-07
UCH proteinases1122.0×7e-10
Deubiquitination714.0×5e-05
DNA Repair711.1×2e-04
HATs acetylate histones810.2×6e-05
Chromatin organization67.9×5e-03

GO biological processes:

GO termPartnersFoldFDR
positive regulation of telomere maintenance in response to DNA damage10135.4×7e-18
regulation of DNA strand elongation10126.9×1e-17
regulation of chromosome organization10112.8×4e-17
regulation of embryonic development1247.8×2e-15
positive regulation of DNA repair1147.5×3e-14
regulation of DNA replication1044.1×1e-12
regulation of DNA repair1136.6×6e-13
DNA recombination936.5×1e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance49
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1268 predictions. Top by Δscore:

VariantEffectΔscore
19:54107169:TC:Tacceptor_loss1.0000
19:54107170:C:CAacceptor_loss1.0000
19:54107170:C:CCacceptor_gain1.0000
19:54108321:CTCA:Cdonor_loss1.0000
19:54108322:TCAC:Tdonor_loss1.0000
19:54108323:CA:Cdonor_loss1.0000
19:54108324:ACCT:Adonor_gain1.0000
19:54108325:CCTC:Cdonor_gain1.0000
19:54110047:TTAC:Tdonor_loss1.0000
19:54110048:TACC:Tdonor_loss1.0000
19:54110049:A:AGdonor_loss1.0000
19:54110050:CC:Cdonor_loss1.0000
19:54110052:T:TAdonor_gain1.0000
19:54110057:T:Adonor_gain1.0000
19:54110120:ACCT:Aacceptor_loss1.0000
19:54110121:CCTA:Cacceptor_loss1.0000
19:54110123:T:Gacceptor_loss1.0000
19:54114437:CCTA:Cdonor_gain1.0000
19:54114438:CTA:Cdonor_loss1.0000
19:54114439:TACCT:Tdonor_loss1.0000
19:54114440:A:AGdonor_loss1.0000
19:54114441:CCTG:Cdonor_gain1.0000
19:54107165:TTAAT:Tacceptor_gain0.9900
19:54107166:TAAT:Tacceptor_gain0.9900
19:54107168:AT:Aacceptor_gain0.9900
19:54107174:A:Tacceptor_gain0.9900
19:54108027:TGC:Tdonor_gain0.9900
19:54108318:ACACT:Adonor_loss0.9900
19:54108319:CACTC:Cdonor_loss0.9900
19:54108320:ACTCA:Adonor_loss0.9900

AlphaMissense

1602 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:54110099:C:AR102M1.000
19:54114617:A:GI36T1.000
19:54114617:A:TI36N1.000
19:54114628:A:CF32L1.000
19:54114628:A:TF32L1.000
19:54114630:A:GF32L1.000
19:54110098:C:AR102S0.999
19:54110098:C:GR102S0.999
19:54114614:A:GL37P0.999
19:54114617:A:CI36S0.999
19:54114629:A:CF32C0.999
19:54114629:A:GF32S0.999
19:54114630:A:TF32I0.999
19:54114632:A:TL31Q0.999
19:54114641:A:GL28S0.999
19:54114670:G:CF18L0.999
19:54114670:G:TF18L0.999
19:54114672:A:GF18L0.999
19:54110066:A:GL113P0.998
19:54110096:A:GL103P0.998
19:54110099:C:GR102T0.998
19:54110116:G:CN96K0.998
19:54110116:G:TN96K0.998
19:54114481:C:AK81N0.998
19:54114481:C:GK81N0.998
19:54114614:A:TL37Q0.998
19:54114630:A:CF32V0.998
19:54114641:A:CL28W0.998
19:54108378:A:GL124P0.997
19:54108378:A:TL124Q0.997

dbSNP variants (sampled 300 via entrez): RS1000143142 (19:54117637 A>T), RS1001396359 (19:54107967 C>T), RS1001444775 (19:54112675 G>C), RS1001495557 (19:54112448 G>A), RS1001832480 (19:54111186 G>A), RS1002504705 (19:54113638 C>T), RS1003596568 (19:54109009 C>G,T), RS1003835673 (19:54109070 T>G), RS1003853352 (19:54114362 G>A,T), RS1004137244 (19:54108776 T>C), RS1004393522 (19:54114122 G>A), RS1005123064 (19:54109180 G>A), RS1005601392 (19:54106912 C>T), RS1006129096 (19:54110454 C>T), RS1006153147 (19:54106703 C>A,T)

Disease associations

OMIM: gene MIM:609519 | disease phenotypes: MIM:600138, MIM:268000

GenCC curated gene-disease

Mondo (2): retinitis pigmentosa 11 (MONDO:0010828), retinitis pigmentosa (MONDO:0019200)

Orphanet (1): Retinitis pigmentosa (Orphanet:791)

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST001762_104Obesity-related traits8.000000e-06
GCST001762_198Obesity-related traits3.000000e-06
GCST001762_787Obesity-related traits8.000000e-06

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004338body weight
EFO:0005106body composition measurement

MeSH disease descriptors (2)

DescriptorNameTree numbers
D012174Retinitis PigmentosaC11.270.684; C11.768.585.658.500; C16.320.290.684
C563991Retinitis Pigmentosa 11 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

ChemicalActions (top 5)PubMed papers
Smokedecreases expression, increases abundance, increases expression2
aristolochic acid Iincreases expression1
FR900359increases phosphorylation1
triphenyl phosphateaffects expression1
pirinixic acidaffects binding, decreases expression, increases activity1
sodium arseniteincreases expression1
coumarinincreases phosphorylation1
di-n-butylphosphoric acidaffects expression1
CGP 52608affects binding, increases reaction1
Air Pollutantsincreases abundance, increases expression1
Caffeinedecreases phosphorylation1
Doxorubicindecreases expression1
Methyl Methanesulfonateincreases expression1
Nickelincreases expression1
Quercetinaffects phosphorylation1
Tretinoinincreases expression1
Urethaneincreases expression1
Valproic Acidincreases methylation1
Palmitic Aciddecreases phosphorylation1
Okadaic Acidincreases expression1
Lactic Aciddecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00717080PHASE4COMPLETEDThe Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00000114PHASE3COMPLETEDRandomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116PHASE3COMPLETEDRandomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333PHASE3COMPLETEDClinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395PHASE3TERMINATEDPhase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207PHASE3COMPLETEDManagement of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853PHASE3COMPLETEDCB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220PHASE3ACTIVE_NOT_RECRUITINGOral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301PHASE3COMPLETEDManagement of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583PHASE3ACTIVE_NOT_RECRUITINGA Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200PHASE3ACTIVE_NOT_RECRUITINGA Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855PHASE3NOT_YET_RECRUITINGA Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530PHASE3NOT_YET_RECRUITING24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00100230PHASE2COMPLETEDDHA and X-Linked Retinitis Pigmentosa
NCT00447980PHASE2COMPLETEDA Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993PHASE2COMPLETEDA Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609PHASE2COMPLETEDTrial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515PHASE2COMPLETEDEfficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659PHASE2COMPLETEDRetinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715PHASE2COMPLETEDAutologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165PHASE2COMPLETEDNerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711PHASE2COMPLETEDAflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360PHASE2UNKNOWNIntravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640PHASE2UNKNOWNStudying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733PHASE2COMPLETEDSafety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207PHASE2COMPLETEDMinocycline Treatment in Retinitis Pigmentosa
NCT04356716PHASE2COMPLETEDSildenafil for Treatment of Choroidal Ischemia
NCT04604899PHASE2COMPLETEDSafety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369PHASE2UNKNOWNInvestigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496PHASE2UNKNOWNEffects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772PHASE2COMPLETEDEfficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964PHASE2TERMINATEDAn Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179PHASE2COMPLETEDA Study in Subjects With Retinitis Pigmentosa
NCT06627179PHASE2RECRUITINGStudy to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947PHASE2RECRUITINGA Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633PHASE2RECRUITINGSafety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT05902962PHASE1COMPLETEDSAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06455826PHASE1COMPLETEDMAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT00063765PHASE1COMPLETEDEvaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye
NCT00065455PHASE1COMPLETEDInvestigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): retinitis pigmentosa 11