| Strategy / study | Modality / intervention | Trial ID / evidence type | Phase / design | Enrollment | Dates | Key endpoints / findings | Supporting citations |
|---|---|---|---|---:|---|---|---|
| VP-001 single-ascending-dose study (“Platypus”) | Intravitreal VP-001 | NCT05902962 | Phase 1, open-label, single-arm dose-escalation | 17 | Started 2023-04-20; primary completion 2025-08-08 | Primary: incidence, severity, and relatedness of treatment-emergent ocular and serious adverse events over 24 and 48 weeks. Secondary/exploratory: fellow-eye and non-ocular adverse events; change in BCVA, low-luminance VA, visual field sensitivity, microperimetry, SD-OCT retinal thickness, ERG, autofluorescence, and patient-reported outcomes (PGI-C, PGI-S). (pqac-00000010) | (pqac-00000010) |
| VP-001 multiple-ascending-dose study (“Wallaby”) | Intravitreal VP-001, 3 repeat injections 8 weeks apart at 30 μg and 75 μg | NCT06455826 | Phase 1, open-label, multiple ascending dose | 6 | Started 2024-06-13; completed 2025-09-24 | Primary: safety/tolerability; incidence, severity, and relatedness of ocular and serious adverse events over 4-week and 52-week periods. Secondary: BCVA, low-luminance VA, kinetic/static perimetry, microperimetry, rod/cone-mediated function, SD-OCT retinal thickness, ffERG, fundus autofluorescence, fundus photography. (pqac-00000008, pqac-00000009) | (pqac-00000008, pqac-00000009) |
| VP-001 repeat-dose extension / efficacy study | Intravitreal VP-001 | NCT06852963 | Phase 1/2, open-label, two-arm safety and efficacy study | 17 | Active, not recruiting; detailed dates not available in retrieved context | Trial record indicates repeat-dose safety/efficacy evaluation in PRPF31 mutation-associated retinal dystrophy, including previously treated participants; detailed endpoint text not available in retrieved context. | (pqac-00000008, pqac-00000009) |
| PRPF31 natural history study (PYC) | No intervention; longitudinal phenotyping | NCT05573984 | Multi-center, prospective observational natural history study | 50 | Started 2022-07-07; estimated primary completion 2026-09-09; estimated final completion 2026-11-01 | Structural/functional progression measures: BCVA, LLVA, SD-OCT retinal thickness, ellipsoid zone area/volume, visual field sensitivity, macular sensitivity, fixation stability, full-field retinal sensitivity, ERG, fundus autofluorescence, mobility course, MRDQ, PGI-S, PGI-C. Visits every 16 weeks in year 1, then every 24 weeks. (pqac-00000011, pqac-00000012) | (pqac-00000011, pqac-00000012, pqac-00000013, pqac-00000015) |
| PRPF31 natural history study (Oslo) | No intervention; observational natural history | NCT04805658 | Observational | 30 | Active, not recruiting; dates/endpoints not available in retrieved context beyond title/registration summary | Registered natural history study of retinitis pigmentosa type 11; detailed endpoint text was not retrieved in the available context. | (pqac-00000011) |
| PRPF31 clinical/genetic phenotyping cohort (Tübingen) | No intervention; retrospective cross-sectional characterization | NCT06368375 | Observational cohort, retrospective cross-sectional | 87 | Study period 2023-01-01 to 2023-06-30; source data from 2007-09 to 2022-01 | Primary goal: genotype–phenotype characterization in genetically confirmed PRPF31-associated inherited retinal dystrophy and asymptomatic carriers using BCVA, visual field testing, fundus photography, ultra-widefield imaging, FAF, OCT, and ffERG. (pqac-00000014) | (pqac-00000014) |
| AAV gene augmentation | AAV-mediated PRPF31 gene supplementation / augmentation | Preclinical mouse, retinal explant, iPSC-derived retinal models | Preclinical proof-of-concept | Not applicable | Key reports 2022 | In CRISPR/Cas9-based mouse models, AAV-mediated PRPF31 augmentation restored retinal structure and function; in human iPSC-derived RPE/organoids, gene augmentation rescued defective RPE and photoreceptor phenotypes, supporting translational development. (pqac-00000006, pqac-00000001) | (pqac-00000006, pqac-00000001) |
| Splice-switching antisense oligonucleotide exon skipping | ASO-mediated skipping of PRPF31 exon 12 to restore open reading frame | Preclinical cell-based precision therapy | Preclinical | Not applicable | 2024 report | In fibroblasts from a patient with PRPF31 c.1205C>A, mutant transcripts were undetectable because of NMD and total PRPF31 mRNA was reduced by 46% versus controls; ASO-induced exon 12 skipping increased PRPF31 mRNA 1.7-fold, reaching a predicted therapeutic threshold inferred from a non-penetrant carrier. (pqac-00000003) | (pqac-00000003) |
| Autophagy activation | Rapamycin to enhance autophagy and reduce aggregate burden | Preclinical iPSC-RPE / retinal organoid study | Preclinical | Not applicable | 2022 report | Rapamycin reduced progressive cytoplasmic aggregates containing mutant PRPF31 and ubiquitinated proteins and improved cell survival in patient-derived RPE, suggesting a combinable supportive strategy alongside gene therapy. (pqac-00000007) | (pqac-00000007) |


*Table: This table summarizes PRPF31-focused therapeutic development and clinical studies, including VP-001 interventional trials, observational natural history studies, and major preclinical strategies. It is useful for quickly comparing modality, development stage, enrollment, dates, and endpoints across the PRPF31-RP11 landscape.*