SPP2
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Also known as SPP24
Summary
SPP2 (secreted phosphoprotein 2, HGNC:11256) is a protein-coding gene on chromosome 2q37.1, encoding Secreted phosphoprotein 24 (Q13103). Could coordinate an aspect of bone turnover.
This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily.
Source: NCBI Gene 6694 — RefSeq curated summary.
At a glance
- Gene–disease (curated): retinitis pigmentosa (Limited, GenCC)
- Clinical variants (ClinVar): 215 total — 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_006944
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11256 |
| Approved symbol | SPP2 |
| Name | secreted phosphoprotein 2 |
| Location | 2q37.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SPP24 |
| Ensembl gene | ENSG00000072080 |
| Ensembl biotype | protein_coding |
| OMIM | 602637 |
| Entrez | 6694 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 17 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000168148, ENST00000373368, ENST00000425558, ENST00000492481, ENST00000874733, ENST00000874734, ENST00000874735, ENST00000874736, ENST00000874737, ENST00000874738, ENST00000874739, ENST00000874740, ENST00000874741, ENST00000874742, ENST00000874743, ENST00000874744, ENST00000874745, ENST00000874746
RefSeq mRNA: 1 — MANE Select: NM_006944
NM_006944
CCDS: CCDS2511
Canonical transcript exons
ENST00000168148 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000398689 | 234050702 | 234050871 |
| ENSE00000786992 | 234060369 | 234060479 |
| ENSE00000786993 | 234066533 | 234066587 |
| ENSE00000786994 | 234067224 | 234067274 |
| ENSE00000839699 | 234069928 | 234070023 |
| ENSE00001417090 | 234076845 | 234077134 |
| ENSE00003601942 | 234050971 | 234051095 |
| ENSE00003635167 | 234058836 | 234058958 |
Expression profiles
Bgee: expression breadth broad, 75 present calls, max score 96.85.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4820 / max 217.3046, expressed in 11 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 26127 | 0.2798 | 10 |
| 26126 | 0.1176 | 8 |
| 26125 | 0.0847 | 8 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 96.85 | gold quality |
| liver | UBERON:0002107 | 95.91 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.34 | gold quality |
| triceps brachii | UBERON:0001509 | 68.52 | gold quality |
| gluteal muscle | UBERON:0002000 | 68.40 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 66.19 | gold quality |
| endothelial cell | CL:0000115 | 62.60 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 62.44 | gold quality |
| gingival epithelium | UBERON:0001949 | 61.90 | gold quality |
| diaphragm | UBERON:0001103 | 61.83 | gold quality |
| secondary oocyte | CL:0000655 | 61.06 | gold quality |
| upper arm skin | UBERON:0004263 | 61.04 | gold quality |
| periodontal ligament | UBERON:0008266 | 60.55 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 59.84 | gold quality |
| quadriceps femoris | UBERON:0001377 | 59.74 | gold quality |
| vastus lateralis | UBERON:0001379 | 59.42 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 58.87 | gold quality |
| oocyte | CL:0000023 | 58.43 | gold quality |
| gingiva | UBERON:0001828 | 58.31 | gold quality |
| deltoid | UBERON:0001476 | 58.18 | gold quality |
| ileal mucosa | UBERON:0000331 | 58.07 | silver quality |
| mucosa of urinary bladder | UBERON:0001259 | 57.94 | gold quality |
| decidua | UBERON:0002450 | 57.03 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 56.74 | gold quality |
| tibialis anterior | UBERON:0001385 | 56.54 | silver quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 56.12 | gold quality |
| squamous epithelium | UBERON:0006914 | 55.88 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 55.14 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 54.90 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 54.76 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.41 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
12 targeting SPP2, 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-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-10399-5P | 99.17 | 69.87 | 2610 |
| HSA-MIR-6504-3P | 99.17 | 69.31 | 2891 |
| HSA-MIR-4738-3P | 98.98 | 67.98 | 1846 |
| HSA-MIR-2278 | 97.30 | 66.19 | 1130 |
| HSA-MIR-383-5P | 96.86 | 67.55 | 820 |
| HSA-MIR-132-5P | 96.61 | 65.79 | 115 |
Literature-anchored findings (GeneRIF, showing 11)
- Results describe the localization of the human secreted phosphoprotein 24 gene, its structure and the start of transcription in liver. (PMID:15062857)
- spp24 contains at least 2 single nucleotide polymorphisms. Given its mechanism of action and sequence variability, SPP24 may be an interesting candidate for future studies of the genetic regulation of bone mass. (PMID:19375587)
- Spp24, or proteolytic products of Spp24, bind cytokines of the TGF-beta superfamily and also activate intracellular signaling pathways [review] (PMID:25339413)
- Report describes a C-terminal fragment within SPP24 that is distinct from the cystatin domain and which independently binds to BMP-2 and TGF-beta. This fragment inhibited BMP-2 activity in an ectopic bone forming assay. (PMID:25418420)
- Spp24 truncation products have effects on osteoblastic differentiation mediated by kinase pathways that are independent of exogenous BMP/TGF-beta cytokines. (PMID:25501958)
- the two mutations of SPP2 have dominant negative effects and cellular accumulation of Spp-24 might be particularly toxic to photoreceptors and/or retinal pigment epithelium. SPP2 has a new role in retinal degeneration. (PMID:26459573)
- Spp24 can inhibit the growth of prostate cancer and its bone metastasis induced by BMP2; spp24 may have great potential to be a therapeutic agent in clinical situations (PMID:27793899)
- SPP2 expression was decreased in colorectal cancer, leukemia, liver cancer and pancreatic cancer. (PMID:31849319)
- Secreted Phosphoprotein 24 is a Biomarker of Mineral Metabolism. (PMID:33481052)
- Secreted phosphoprotein 24 kD (Spp24) inhibits the growth of human osteosarcoma through the BMP-2/Smad signaling pathway. (PMID:36883270)
- SPP2 plays a role in the tumorigenesis of hepatocellular carcinoma: A bioinformatic based analysis. (PMID:38448371)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | spp2 | ENSDARG00000095590 |
| mus_musculus | Spp2 | ENSMUSG00000026295 |
| rattus_norvegicus | Spp2 | ENSRNOG00000053244 |
Protein
Protein identifiers
Secreted phosphoprotein 24 — Q13103 (reviewed: Q13103)
Alternative names: Secreted phosphoprotein 2
All UniProt accessions (2): Q13103, C9J6K0
UniProt curated annotations — full annotation on UniProt →
Function. Could coordinate an aspect of bone turnover.
Subcellular location. Secreted.
Tissue specificity. Detected in liver and plasma.
Post-translational modifications. Phosphorylation sites are present in the extracellular medium.
Similarity. Belongs to the SPP2 family.
RefSeq proteins (1): NP_008875* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010892 | Spp-24 | Family |
| IPR046350 | Cystatin_sf | Homologous_superfamily |
Pfam: PF07448
UniProt features (12 total): modified residue 6, disulfide bond 2, signal peptide 1, chain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13103-F1 | 69.68 | 0.36 |
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 (6): 96, 145, 146, 170, 173, 182
Disulfide bonds (2): 92–103, 116–134
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-114608 | Platelet degranulation |
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-8957275 | Post-translational protein phosphorylation |
| R-HSA-109582 | Hemostasis |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-76002 | Platelet activation, signaling and aggregation |
| R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
MSigDB gene sets: 87 (showing top):
GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GNF2_HPN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GNF2_LCAT, HSIAO_LIVER_SPECIFIC_GENES, GNF2_HPX, MODULE_88, TGGNNNNNNKCCAR_UNKNOWN, CDPCR3HD_01, MODULE_95, TGGAAA_NFAT_Q4_01, GOCC_SECRETORY_VESICLE
GO Biological Process (3): skeletal system development (GO:0001501), bone remodeling (GO:0046849), protein-containing complex assembly (GO:0065003)
GO Molecular Function (1): endopeptidase inhibitor activity (GO:0004866)
GO Cellular Component (4): extracellular region (GO:0005576), endoplasmic reticulum lumen (GO:0005788), platelet dense granule lumen (GO:0031089), protein-containing complex (GO:0032991)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Metabolism of proteins | 2 |
| Response to elevated platelet cytosolic Ca2+ | 1 |
| Post-translational protein modification | 1 |
| Hemostasis | 1 |
| Platelet activation, signaling and aggregation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| system development | 1 |
| tissue remodeling | 1 |
| cellular component assembly | 1 |
| protein-containing complex organization | 1 |
| endopeptidase activity | 1 |
| peptidase inhibitor activity | 1 |
| endopeptidase regulator activity | 1 |
| cellular anatomical structure | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| secretory granule lumen | 1 |
| platelet dense granule | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
808 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SPP2 | AHSG | P02765 | 899 |
| SPP2 | CUX1 | P39880 | 772 |
| SPP2 | MGP | P08493 | 730 |
| SPP2 | CDC37L1 | Q7L3B6 | 552 |
| SPP2 | TAPT1 | Q6NXT6 | 496 |
| SPP2 | CP | P00450 | 491 |
| SPP2 | SERPINC1 | P01008 | 475 |
| SPP2 | ALB | P02768 | 463 |
| SPP2 | BMP2 | P12643 | 446 |
| SPP2 | BMP7 | P18075 | 443 |
| SPP2 | CMPK1 | P30085 | 440 |
| SPP2 | KRT2 | P35908 | 440 |
| SPP2 | CEBPA | P49715 | 440 |
| SPP2 | SERPINA3 | P01011 | 431 |
| SPP2 | GALNT1 | Q10472 | 427 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SPP2 | FAM20C | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
BioGRID (1): SPP2 (Positive Genetic)
ESM2 similar proteins: B6D434, B6S2X0, B6S2X2, O08692, O18752, O18753, O18755, O70183, O97759, P01042, P14082, P21237, P23363, P23470, P23560, P54228, Q05909, Q0EAB7, Q13103, Q1KLX9, Q1KLY0, Q1KLY2, Q1KLY3, Q27967, Q2F7Z7, Q2IAL7, Q3SAT7, Q3T0Q2, Q49M28, Q4L0Y3, Q4R8C8, Q5IS78, Q5R800, Q5W186, Q62740, Q6LCI5, Q70I47, Q70TH4, Q710A0, Q710A1
Diamond homologs: Q13103, Q27967, Q62740, Q70I47, Q70TH4, Q710A0, Q710A1, Q711S8, Q8K1I3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
215 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 119 |
| Likely benign | 76 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3027529 | NM_006944.3(SPP2):c.49_52dup (p.Phe18fs) | Likely pathogenic |
SpliceAI
1106 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:234066497:A:AG | acceptor_gain | 1.0000 |
| 2:234066497:AT:A | acceptor_gain | 1.0000 |
| 2:234066497:ATGT:A | acceptor_gain | 1.0000 |
| 2:234066498:T:G | acceptor_gain | 1.0000 |
| 2:234066498:T:TA | acceptor_gain | 1.0000 |
| 2:234066503:T:A | acceptor_gain | 1.0000 |
| 2:234050868:TCAG:T | donor_loss | 0.9900 |
| 2:234050869:CAG:C | donor_loss | 0.9900 |
| 2:234050870:AG:A | donor_loss | 0.9900 |
| 2:234050871:GGTAA:G | donor_loss | 0.9900 |
| 2:234050872:G:A | donor_loss | 0.9900 |
| 2:234051094:GA:G | donor_gain | 0.9900 |
| 2:234060367:A:AG | acceptor_gain | 0.9900 |
| 2:234060368:G:GA | acceptor_gain | 0.9900 |
| 2:234066500:T:TA | acceptor_gain | 0.9900 |
| 2:234069922:CTTTA:C | acceptor_loss | 0.9900 |
| 2:234069923:TTTA:T | acceptor_loss | 0.9900 |
| 2:234069924:TTAG:T | acceptor_loss | 0.9900 |
| 2:234069925:TAG:T | acceptor_loss | 0.9900 |
| 2:234069926:A:C | acceptor_loss | 0.9900 |
| 2:234069926:AG:A | acceptor_gain | 0.9900 |
| 2:234069927:G:T | acceptor_loss | 0.9900 |
| 2:234069927:GG:G | acceptor_gain | 0.9900 |
| 2:234070019:TTGAG:T | donor_loss | 0.9900 |
| 2:234070020:TGAGG:T | donor_loss | 0.9900 |
| 2:234070021:GAGG:G | donor_loss | 0.9900 |
| 2:234070022:AG:A | donor_loss | 0.9900 |
| 2:234070023:GG:G | donor_loss | 0.9900 |
| 2:234070024:G:T | donor_loss | 0.9900 |
| 2:234070025:T:G | donor_loss | 0.9900 |
AlphaMissense
1403 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:234060387:A:C | S118R | 0.994 |
| 2:234060389:C:A | S118R | 0.994 |
| 2:234060389:C:G | S118R | 0.994 |
| 2:234058879:T:C | F85S | 0.991 |
| 2:234060381:T:A | C116S | 0.990 |
| 2:234060382:G:C | C116S | 0.990 |
| 2:234058879:T:G | F85C | 0.987 |
| 2:234060381:T:C | C116R | 0.986 |
| 2:234051041:T:A | N52K | 0.985 |
| 2:234051041:T:G | N52K | 0.985 |
| 2:234060382:G:A | C116Y | 0.985 |
| 2:234060435:T:A | C134S | 0.985 |
| 2:234060436:G:C | C134S | 0.985 |
| 2:234051025:C:T | S47F | 0.982 |
| 2:234060383:C:G | C116W | 0.982 |
| 2:234051025:C:A | S47Y | 0.981 |
| 2:234058878:T:C | F85L | 0.981 |
| 2:234058880:C:A | F85L | 0.981 |
| 2:234058880:C:G | F85L | 0.981 |
| 2:234058894:C:T | T90I | 0.981 |
| 2:234058899:T:A | C92S | 0.981 |
| 2:234058900:G:C | C92S | 0.981 |
| 2:234058939:T:G | F105C | 0.981 |
| 2:234058899:T:C | C92R | 0.978 |
| 2:234058932:T:C | C103R | 0.978 |
| 2:234058932:T:A | C103S | 0.977 |
| 2:234058933:G:C | C103S | 0.977 |
| 2:234060435:T:C | C134R | 0.975 |
| 2:234058900:G:A | C92Y | 0.973 |
| 2:234058901:C:G | C92W | 0.971 |
dbSNP variants (sampled 300 via entrez): RS1000107810 (2:234049773 A>G), RS1000136411 (2:234067437 C>T), RS1000696420 (2:234076931 T>G), RS1000833950 (2:234060028 C>T), RS1000846133 (2:234050344 G>C), RS1000887782 (2:234054224 A>G), RS1000919394 (2:234071172 T>G), RS1001075211 (2:234067706 G>A), RS1001100548 (2:234061201 AATTAT>A), RS1001148226 (2:234065916 T>C), RS1001172611 (2:234056200 T>A,C), RS1001292555 (2:234059739 C>T), RS1001324788 (2:234056490 T>G), RS1001359289 (2:234067829 C>G,T), RS1001494829 (2:234061965 T>C)
Disease associations
OMIM: gene MIM:602637 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| retinitis pigmentosa | Limited | Autosomal dominant |
Mondo (2): inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa (MONDO:0019200)
Orphanet (1): OBSOLETE: Inherited retinal disorder (Orphanet:71862)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000556 | Retinal dystrophy |
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D058499 | Retinal Dystrophies | C11.768.585.658 |
| D012174 | Retinitis Pigmentosa | C11.270.684; C11.768.585.658.500; C16.320.290.684 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, decreases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| uranyl acetate | affects expression | 1 |
| propionaldehyde | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | decreases expression | 1 |
| diisononyl phthalate | decreases expression, affects cotreatment | 1 |
| lead nitrate | affects cotreatment, decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| butylbenzyl phthalate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Troglitazone | decreases expression | 1 |
| Chenodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Deoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | affects cotreatment, decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Glycochenodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Glycocholic Acid | affects cotreatment, decreases expression | 1 |
| Glycodeoxycholic Acid | decreases expression, affects cotreatment | 1 |
Clinical trials (associated diseases)
259 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00717080 | PHASE4 | COMPLETED | The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction |
| NCT00000114 | PHASE3 | COMPLETED | Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa |
| NCT00000116 | PHASE3 | COMPLETED | Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A |
| NCT00346333 | PHASE3 | COMPLETED | Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A |
| NCT01786395 | PHASE3 | TERMINATED | Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa |
| NCT04224207 | PHASE3 | COMPLETED | Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells |
| NCT04636853 | PHASE3 | COMPLETED | CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration |
| NCT05537220 | PHASE3 | ACTIVE_NOT_RECRUITING | Oral N-acetylcysteine for Retinitis Pigmentosa |
| NCT05800301 | PHASE3 | COMPLETED | Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision |
| NCT05926583 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa |
| NCT06388200 | PHASE3 | ACTIVE_NOT_RECRUITING | A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa |
| NCT07082855 | PHASE3 | NOT_YET_RECRUITING | A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa |
| NCT07290530 | PHASE3 | NOT_YET_RECRUITING | 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome |
| NCT00100230 | PHASE2 | COMPLETED | DHA and X-Linked Retinitis Pigmentosa |
| NCT00447980 | PHASE2 | COMPLETED | A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa |
| NCT00447993 | PHASE2 | COMPLETED | A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa |
| NCT01233609 | PHASE2 | COMPLETED | Trial of Oral Valproic Acid for Retinitis Pigmentosa |
| NCT01399515 | PHASE2 | COMPLETED | Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa |
| NCT01530659 | PHASE2 | COMPLETED | Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa |
| NCT01560715 | PHASE2 | COMPLETED | Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa |
| NCT02609165 | PHASE2 | COMPLETED | Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema |
| NCT02661711 | PHASE2 | COMPLETED | Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study |
| NCT02804360 | PHASE2 | UNKNOWN | Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study |
| NCT02837640 | PHASE2 | UNKNOWN | Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa |
| NCT03073733 | PHASE2 | COMPLETED | Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa |
| NCT04068207 | PHASE2 | COMPLETED | Minocycline Treatment in Retinitis Pigmentosa |
| NCT04356716 | PHASE2 | COMPLETED | Sildenafil for Treatment of Choroidal Ischemia |
| NCT04604899 | PHASE2 | COMPLETED | Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa |
| NCT04763369 | PHASE2 | UNKNOWN | Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP) |
| NCT04864496 | PHASE2 | UNKNOWN | Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa |
| NCT04945772 | PHASE2 | COMPLETED | Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE] |
| NCT05085964 | PHASE2 | TERMINATED | An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa |
| NCT05392179 | PHASE2 | COMPLETED | A Study in Subjects With Retinitis Pigmentosa |
| NCT06627179 | PHASE2 | RECRUITING | Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene |
| NCT06628947 | PHASE2 | RECRUITING | A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa |
| NCT06912633 | PHASE2 | RECRUITING | Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP) |
| NCT03763227 | PHASE2 | COMPLETED | Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy |
| NCT00063765 | PHASE1 | COMPLETED | Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye |
| NCT00065455 | PHASE1 | COMPLETED | Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa |
| NCT00458575 | PHASE1 | TERMINATED | A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa |
Related Atlas pages
- Associated diseases: retinitis pigmentosa 1
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): inherited retinal dystrophy, retinitis pigmentosa