Retinitis pigmentosa 1

Summary

Retinitis pigmentosa 1 (MONDO:0008377) is a disease caused by RP1 (GenCC Definitive), with 3 cohort genes and 237 clinical trials. Top therapeutic interventions include retinol, cenegermin, and valproic acid.

At a glance

• Causal gene: RP1 (GenCC Definitive)
• Cohort genes: 3
• ClinVar variants: 143
• Clinical trials: 237

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 1
Mondo ID	MONDO:0008377
MeSH	C538365
OMIM	180100
DOID	DOID:0110390
UMLS	C0220701
MedGen	67395
GARD	0009149
Is cancer (heuristic)	no

Also known as: retinitis pigmentosa · retinitis pigmentosa 1 · retinitis pigmentosa caused by mutation in RP1 · retinitis pigmentosa type 1 · RP · RP1 · RP1 retinitis pigmentosa

Data availability: 143 ClinVar variants · 5 GenCC gene-disease records · 225 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › retinitis pigmentosa › retinitis pigmentosa 1

Related subtypes (101): retinitis pigmentosa 6, cone-rod dystrophy 2, retinitis pigmentosa 9, retinitis pigmentosa 10, dominant pericentral pigmentary retinopathy, late-adult onset retinitis pigmentosa, autosomal recessive pericentral pigmentary retinopathy, retinitis pigmentosa 3, retinitis pigmentosa 24, retinitis pigmentosa 23, retinitis pigmentosa 34, retinitis pigmentosa 2, retinitis pigmentosa Y-linked, retinitis pigmentosa 13, retinitis pigmentosa 12, retinitis pigmentosa 14, retinitis pigmentosa 11, retinitis pigmentosa 17, retinitis pigmentosa 18, retinitis pigmentosa 19, retinitis pigmentosa 22, retinitis pigmentosa 25, retinitis pigmentosa 28, retinitis pigmentosa 30, retinitis pigmentosa 7, retinitis pigmentosa 26, retinitis pigmentosa 32, retinitis pigmentosa 31, retinitis pigmentosa 35, retinitis pigmentosa 33, retinitis pigmentosa 36, retinitis pigmentosa 37, retinitis pigmentosa 41, retinitis pigmentosa 29, retinitis pigmentosa 46, retinitis pigmentosa 42, retinitis pigmentosa 50, retinitis pigmentosa 54, retinitis pigmentosa 51, retinitis pigmentosa 55, retinitis pigmentosa 56, retinitis pigmentosa 57, retinitis pigmentosa 58, cone-rod dystrophy 15, retinitis pigmentosa 4, retinitis pigmentosa 27, retinitis pigmentosa 49, retinitis pigmentosa 47, retinitis pigmentosa 45, retinitis pigmentosa 44, retinitis pigmentosa 20, retinitis pigmentosa 40, retinitis pigmentosa 39, retinitis pigmentosa 43, retinitis pigmentosa 48, retinitis pigmentosa 59, retinitis pigmentosa 38, retinitis pigmentosa 60, retinitis pigmentosa 61, retinitis pigmentosa 62, retinitis pigmentosa 63, cone-rod dystrophy 16, retinitis pigmentosa 66, retinitis pigmentosa with or without situs inversus, retinitis pigmentosa 67, retinitis pigmentosa 68, retinitis pigmentosa 69, retinitis pigmentosa 70, retinal dystrophy and obesity, retinitis pigmentosa 71, retinitis pigmentosa 72, retinitis pigmentosa 73, retinitis pigmentosa 74, retinitis pigmentosa 75, retinitis pigmentosa 76, retinitis pigmentosa 77, retinitis pigmentosa 92, retinitis pigmentosa 93, retinitis pigmentosa 83, retinitis pigmentosa 84, retinitis pigmentosa 85, retinitis pigmentosa 86, retinitis pigmentosa 87 with choroidal involvement, retinitis pigmentosa 88, retinitis pigmentosa 90, retinitis pigmentosa 81, retinitis pigmentosa 78, retinitis pigmentosa 79, retinitis pigmentosa 80, retinitis pigmentosa 94, variable age at onset, retinitis pigmentosa 53, retinitis pigmentosa 65, retinitis pigmentosa 64, retinitis pigmentosa 95, retinitis pigmentosa 96, retinitis pigmentosa 97, retinitis pigmentosa 98, retinitis pigmentosa 99, retinitis pigmentosa 100, retinitis pigmentosa 101, retinitis pigmentosa 7, digenic

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

143 retrieved; paginated sample, class counts are floors:

32 uncertain significance, 30 pathogenic/likely pathogenic, 26 pathogenic, 24 likely pathogenic, 13 conflicting classifications of pathogenicity, 8 benign, 5 likely benign, 5 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1213903	NM_006269.2(RP1):c.5564del (p.Lys1855fs)	LOC126860392	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1325010	NM_006269.2(RP1):c.5248G>T (p.Glu1750Ter)	LOC126860392	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
498306	NM_006269.2(RP1):c.5017del (p.Tyr1673fs)	LOC126860392	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
522458	NM_006269.2(RP1):c.5105_5109del (p.Asp1702fs)	LOC126860392	Pathogenic	no assertion criteria provided
1031616	NM_006269.2(RP1):c.6181del (p.Ile2061fs)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1065648	NM_006269.2(RP1):c.1126C>T (p.Arg376Ter)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1065776	NM_006269.2(RP1):c.4171del (p.Gln1391fs)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1076906	NM_006269.2(RP1):c.4582_4585del (p.Ile1528fs)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1172726	NM_006269.2(RP1):c.4709del (p.Gly1570fs)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1213898	NM_006269.2(RP1):c.532C>T (p.Gln178Ter)	RP1	Pathogenic	criteria provided, multiple submitters, no conflicts
1213902	NM_006269.2(RP1):c.2079del (p.Gly694fs)	RP1	Pathogenic	criteria provided, multiple submitters, no conflicts
1323531	NM_006269.2(RP1):c.257dup (p.Arg87fs)	RP1	Pathogenic	criteria provided, multiple submitters, no conflicts
1333517	NM_006269.2(RP1):c.2015dup (p.Lys673fs)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
143134	NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1686129	NM_001375654.1(RP1):c.2212-1G>A	RP1	Pathogenic	criteria provided, single submitter
1708390	NM_006269.2(RP1):c.2001del (p.Val668fs)	RP1	Pathogenic	criteria provided, single submitter
1711675	NM_006269.2(RP1):c.2574del (p.Val859fs)	RP1	Pathogenic	criteria provided, multiple submitters, no conflicts
2136667	NM_006269.2(RP1):c.2185del (p.Glu729fs)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
225457	NM_006269.2(RP1):c.4196del (p.Cys1399fs)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
236415	NM_006269.2(RP1):c.1462del (p.Glu488fs)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2429744	NM_006269.2(RP1):c.2103_2104del (p.Arg701fs)	RP1	Pathogenic	criteria provided, single submitter
2500819	NM_006269.2(RP1):c.6_7del (p.Ser2fs)	RP1	Pathogenic	criteria provided, single submitter
268180	NM_006269.2(RP1):c.4743dup (p.Cys1582fs)	RP1	Pathogenic	criteria provided, multiple submitters, no conflicts
2834570	NM_006269.2(RP1):c.2015del (p.Lys672fs)	RP1	Pathogenic	criteria provided, multiple submitters, no conflicts
3338664	NM_006269.2(RP1):c.2102_2103del (p.Arg701fs)	RP1	Pathogenic	criteria provided, single submitter
3341286	NM_006269.2(RP1):c.2786T>G (p.Leu929Ter)	RP1	Pathogenic	criteria provided, single submitter
3376273	NM_006269.2(RP1):c.160del (p.Val54fs)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3775460	NM_006269.2(RP1):c.2143C>T (p.Gln715Ter)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
437947	NM_006269.2(RP1):c.1498_1499del (p.Met500fs)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
437951	NM_006269.2(RP1):c.2206dup (p.Thr736fs)	RP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 30 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
MAPRE2	Definitive	Autosomal dominant	retinitis pigmentosa 1	18
RP1	Definitive	Autosomal dominant	retinitis pigmentosa 1	12

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RP1	Orphanet:791	Retinitis pigmentosa
MAPRE2	Orphanet:2505	Multiple benign circumferential skin creases on limbs
ABCA4	Orphanet:1872	Cone rod dystrophy
ABCA4	Orphanet:791	Retinitis pigmentosa
ABCA4	Orphanet:827	Stargardt disease

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RP1	HGNC:10263	ENSG00000104237	P56715	Oxygen-regulated protein 1	gencc,clinvar
MAPRE2	HGNC:6891	ENSG00000166974	Q15555	Microtubule-associated protein RP/EB family member 2	gencc,clinvar
ABCA4	HGNC:34	ENSG00000198691	P78363	Retinal-specific phospholipid-transporting ATPase ABCA4	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RP1	Oxygen-regulated protein 1	Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors.
MAPRE2	Microtubule-associated protein RP/EB family member 2	Adapter protein that is involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes.
ABCA4	Retinal-specific phospholipid-transporting ATPase ABCA4	Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (N-Ret-PE) from the lumen to the cytoplasmic leafl…

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 2 · Druggable fraction: 0.33

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transporter	1	25.9×	0.076
Other/Unknown	2	1.2×	0.587

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RP1	Other/Unknown	no		Doublecortin_dom, Doublecortin_dom_sf
MAPRE2	Other/Unknown	no		CH_dom, EB1_C, MAPRE
ABCA4	Transporter	yes		ABC_transporter-like_ATP-bd, AAA+_ATPase, ABCA4/ABCR

Expression context

Cohort genes with no expression data: 0.

3 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	2
olfactory segment of nasal mucosa	1
right uterine tube	1
corpus callosum	1
cortical plate	1
dorsal root ganglion	1
pigmented layer of retina	1
primordial germ cell in gonad	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RP1	103	tissue_specific	marker	right uterine tube, olfactory segment of nasal mucosa, male germ line stem cell (sensu Vertebrata) in testis
MAPRE2	300	ubiquitous	marker	cortical plate, dorsal root ganglion, corpus callosum
ABCA4	164	tissue_specific	marker	pigmented layer of retina, primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MAPRE2	2,195
ABCA4	1,532
RP1	797

Structural data

PDB: 1 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ABCA4	P78363	8

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
MAPRE2	Q15555	75.12
RP1	P56715	37.45

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 10. Enrichment computed across 3 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective visual phototransduction due to ABCA4 loss of function	1	11420.0×	9e-04	ABCA4
Retinoid cycle disease events	1	2855.0×	9e-04	ABCA4
Diseases associated with visual transduction	1	2855.0×	9e-04	ABCA4
Diseases of the neuronal system	1	2855.0×	9e-04	ABCA4
The canonical retinoid cycle in rods (twilight vision)	1	519.1×	0.004	ABCA4
Visual phototransduction	1	259.6×	0.006	ABCA4
ABC-family protein mediated transport	1	121.5×	0.012	ABCA4
Sensory Perception	1	95.2×	0.013	ABCA4
Transport of small molecules	1	25.1×	0.044	ABCA4
Disease	1	13.1×	0.076	ABCA4

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
phototransduction, visible light	2	864.2×	4e-05	RP1, ABCA4
photoreceptor cell maintenance	2	239.0×	3e-04	RP1, ABCA4
phospholipid transfer to membrane	1	1872.4×	0.003	ABCA4
positive regulation of ARF protein signal transduction	1	1872.4×	0.003	MAPRE2
visual perception	2	53.0×	0.003	RP1, ABCA4
photoreceptor cell development	1	1404.3×	0.003	RP1
positive regulation of focal adhesion disassembly	1	624.1×	0.005	MAPRE2
positive regulation of non-motile cilium assembly	1	624.1×	0.005	RP1
retinal rod cell development	1	561.7×	0.005	RP1
retinal cone cell development	1	468.1×	0.005	RP1
protein localization to microtubule	1	432.1×	0.005	MAPRE2
positive regulation of keratinocyte migration	1	432.1×	0.005	MAPRE2
regulation of microtubule polymerization or depolymerization	1	351.1×	0.005	MAPRE2
photoreceptor cell outer segment organization	1	351.1×	0.005	RP1
cellular response to light stimulus	1	351.1×	0.005	RP1
retinal metabolic process	1	312.1×	0.005	ABCA4
phospholipid translocation	1	208.1×	0.007	ABCA4
axoneme assembly	1	181.2×	0.008	RP1
retinoid metabolic process	1	165.2×	0.008	ABCA4
spindle assembly	1	147.8×	0.008	MAPRE2
lipid transport	1	87.8×	0.013	ABCA4
retina development in camera-type eye	1	85.1×	0.013	RP1
transmembrane transport	1	56.2×	0.019	ABCA4
cell division	1	15.4×	0.066	MAPRE2
intracellular signal transduction	1	12.7×	0.077	RP1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 3

Druggability breadth: 2 of 3 evidence-associated genes (67%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
RP1	0	0
MAPRE2	0	0
ABCA4	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
RP1	1	Binding:1
MAPRE2	1	Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	ABCA4
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	2	RP1, MAPRE2

Undrugged target profiles

3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
RP1	1	—
MAPRE2	1	—
ABCA4	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 237.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	132
PHASE1/PHASE2	37
PHASE2	23
PHASE1	23
PHASE3	12
EARLY_PHASE1	5
PHASE2/PHASE3	4
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05909488	PHASE2/PHASE3	NOT_YET_RECRUITING	Role of UC-MSC and CM to Inhibit Vision Loss in Retinitis Pigmentosa Phase I/II
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
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
NCT05158296	PHASE2/PHASE3	TERMINATED	Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)
NCT05176717	PHASE2/PHASE3	TERMINATED	Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste)
NCT05413148	PHASE2/PHASE3	UNKNOWN	The Effect of Stem Cells and Stem Cell Exosomes on Visual Functions in Patients With Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT02018692	PHASE1/PHASE2	NOT_YET_RECRUITING	The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa
NCT03374657	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A First-in-human, Proof of Concept Study of CPK850 in Patients With RLBP1 Retinitis Pigmentosa
NCT03963154	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Interventional Study of Implantation of hESC-derived RPE in Patients With RP Due to Monogenic Mutation
NCT04278131	PHASE1/PHASE2	RECRUITING	BS01 in Patients With Retinitis Pigmentosa
NCT04611503	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	PDE6A Gene Therapy for Retinitis Pigmentosa
NCT05203939	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
NCT05748873	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Promising ROd-cone DYstrophy Gene therapY
NCT05858229	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Neo-adjuvant Treatment for Squamous Cell Carcinoma Using Direct Tumor Injection With RP1.
NCT06242379	PHASE1/PHASE2	RECRUITING	Safety and Efficacy of Stem Cell Small Extracellular Vesicles in Patients 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
NCT06787482	PHASE1/PHASE2	RECRUITING	Evaluating a New Peptide Therapy for Retinal Diseases: AMD, Diabetic Retinopathy, and Dystrophies
NCT06789445	PHASE1/PHASE2	RECRUITING	A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
NCT06891885	PHASE1/PHASE2	RECRUITING	A Study to Investigate the Safety of DSP-3077 After a Unilateral Eye Injection in Male and Female Participants 18 Years of Age or Older With Retinitis Pigmentosa
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT06952842	PHASE1/PHASE2	NOT_YET_RECRUITING	Safety and Efficacy of ZVS203e in the Treatment of Retinitis Pigmentosa Caused by RHO Gene Mutation
NCT07282457	PHASE1/PHASE2	NOT_YET_RECRUITING	Prospective, Randomized, Sham-controlled, Dose-finding I/II Trial of Safety and Efficacy of Modified Optogenetic Gene Therapy (ZM-02 Injection)
NCT07341919	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Subtenon Autologous Platelet-Rich Plasma in Inherited and Degenerative Retinal Diseases
NCT07348588	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Intravitreal Adalimumab in Inherited and Degenerative Retinal Diseases
NCT07408232	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Phase 1/2 Study in Healthy Volunteers and Participants With Autosomal Dominant Retinitis Pigmentosa (RHO-adRP)
NCT07509229	PHASE1/PHASE2	NOT_YET_RECRUITING	9-cis Beta-Carotene-Rich Extract of Dunaliella Alga in Retinitis Pigmentosa Patients
NCT00029289	PHASE1/PHASE2	COMPLETED	Effects of Lutein in Retinitis Pigmentosa
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
RETINOL	4	3
CENEGERMIN	4	2
VALPROIC ACID	4	2
DISULFIRAM	4	1
MINOCYCLINE	4	1
UNOPROSTONE ISOPROPYL	4	1
VITAMIN E	4	1
CILIARY NEUROTROPHIC FACTOR	3	2
DOCONEXENT	3	2
LUTEIN	3	2
STARCH, CORN	3	1
VUSOLIMOGENE ODERPAREPVEC	3	1
XYLITOL	3	1
ZURETINOL ACETATE	2	3
ULTEVURSEN	2	1
BALURETGENE PARVEC	1	1
KIO-301	1	1
CHEMBL4439413	0	2
CHEMBL5435500	0	2
CHEMBL5417591	0	1
ALPHA-TOCOPHEROL	0	1