Drug discovery
97
drugs
With orphan designations
Overview
Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive degeneration of rod and cone photoreceptors, leading to night blindness, peripheral vision loss, and eventual central vision impairment. Caused by mutations in over 60 genes, RP typically manifests in childhood/adolescence and progresses variably. No cure exists, but therapeutic strategies aim to slow progression (e.g., vitamin A supplementation, gene therapy for specific mutations) and manage complications (e.g., cataracts, macular edema) [1][2][6][11].
Burden
Leading cause of inherited blindness; 5–7% of new blindness cases in Western countries [4][7].
Legal blindness in ~40% by age 40; severe quality-of-life decline, unemployment, and caregiver strain [4][7][16].
Annual U.S. economic burden exceeds $1 billion, including direct healthcare and indirect productivity losses [4][16].
Therapies
Gene therapy: FDA-approved voretigene neparvovec (RPE65 mutations) [13][17]; experimental therapies (e.g., QR-421a for USH2A) in trials [13].
Supportive care: Vitamin A palmitate (15,000 IU/day) to slow progression; avoid high-dose vitamin E [1][11][18].
Low-vision aids: Retinal prostheses, orientation training, and adaptive technologies [6][11][15].
Categories: rare genetic diseases, rare neurological diseases, rare ophthalmic disorders
Drug Discovery Landscape
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
retinal cells derived from allogeneic human induced pluripotent stem cell line | cell therapies | FDA | 2026-03-26 | — | Agnos Therapeutics, Inc. |
tripentadecanoin | small molecules | FDA | 2026-03-23 | — | SunRegen Healthcare AG |
allogeneic self-organized three-dimensional retinal tissue-sheet derived from human induced pluripotent stem cells (iPSCs) that include photoreceptor precursors | cell therapies | FDA | 2026-03-12 | — | Sumitomo Pharma America Inc |
a cell-based therapeutic composed of purified human rod precursor cells (hRPCs) | cell therapies | FDA | 2026-02-14 | — | InGel Therapeutics Inc. |
allogeneic human induced pluripotent stem cell-derived photoreceptor precursor cells | cell therapies | FDA | 2025-12-10 | — | BlueRock Therapeutics LP |
recombinant adeno-associated virus vector expressing ChronosFP | gene therapies | FDA | 2025-05-01 | — | Bionic Sight, Inc. |
N6-(3-aminopropyl)-L-lysine trihydrochloride | small molecules | FDA | 2025-04-16 | — | Ren Bioscience LLC |
adeno-associated virus vector with a codon-optimized chicken Opsin 5 gene | gene therapies | FDA | 2025-03-03 | — | GenAns Biotechnology Co., Ltd |
4-[[(4-Methoxyphenyl)thio]methyl]-N,N-dimethyl-1H-1,2,3-triazole-1-ethanamine | small molecules | EMA | 2024-11-11 | — | Miramoon Pharma S.L. |
recombinant human adeno-associated virus serotype 2 containing PsCatCh2.0 gene | gene therapies | FDA | 2024-10-28 | — | Zhongmou Therapeutics, Inc. |
adeno associated virus carrying opn3 | gene therapies | FDA | 2024-09-25 | — | NeoVec Biotherapeutics Inc. |
recombinant adeno-associated virus 5 vector expressing a functional human cyclic nucleotide gated channel subunit beta 1 (CNGB1) gene | gene therapies | FDA | 2024-09-23 | — | National Institutes of Health National Institutes of Health (NIH), National Center for Advancing Translational Sciences (NCATS) |
adeno-associated virus (AAV) gene therapy product that comprised a modified AAV2 capsid and a light sensitive transgene | gene therapies | FDA | 2024-08-20 | — | Skyline Therapeutics (US) Inc. |
(E)-2-((4-((4-Benzyl(ethyl)amino)phenyl)diazinyl)phenyl)amino-N,N,N-triethyl-2-oxoethan-1-aminium chloride | small molecules | EMA | 2024-07-25 | — | Kiora Pharmaceuticals GmbH |
Human induced pluripotent stem cells (iPSC)-derived Photoreceptor Progenitor Cells | cell therapies | FDA | 2024-03-20 | — | iRegene Therapeutics Co., Ltd |
Recombinant adeno-associated virus type 5 vector containing codon optimized human RPGR^ORF15 protein coding gene (rAAV5-hRPGR^ORF15) | gene therapies | FDA | 2024-01-22 | — | FTGEN Corp. |
2-(4-(((4-methoxyphenyl)thio)methyl)-1H-1,2,3-triazol-1-yl)-N,N-dimethylethan-1-aminium hydrochloride | small molecules | FDA | 2024-01-22 | — | Miramoon Pharma SL |
Human Retinal Pigment Epithelial Cell Injection | cell therapies | FDA | 2023-09-19 | — | Eyecure Therapeutics Inc. |
Adeno-associated viral vector serotype 2.NN encoding the human cyclic nucleotide-gated channel subunit A1 gene | gene therapies | FDA | 2023-08-17 | — | ViGeneron GmbH |
Human Nuclear Hormone Receptor Subfamily 2 Group E Member 3 (hNR2E3) | gene therapies | FDA | 2022-12-15 | — | Ocugen, Inc. |
adeno-associated virus serotype 8 expressing Cas9 gene and single guide RNA targeting R135W mutation in Rhodopsin gene | gene therapies | FDA | 2022-07-14 | — | Chigenovo Co., Ltd. |
AAV2/8-SaCas9-sgRNA RHO-T17M | gene therapies | FDA | 2022-06-07 | — | Chigenovo Co., Ltd. |
Adeno-associated virus serotype R100 containing the human RPGRorf15 gene isoform | gene therapies | EMA | 2022-05-16 | — | Pharma Gateway AB |
Benzyl ethyl aminoazobenzene quaternary ammonium | small molecules | FDA | 2022-03-17 | — | Kiora Pharmaceuticals, Inc. |
Methotrexate | small molecules | FDA | 2021-07-21 | — | Aldeyra Therapeutics, Inc. |
Melatonin | small molecules | EMA | 2021-05-20 | — | Worphmed S.r.l. |
Melatonin | small molecules | FDA | 2021-05-10 | — | WORPHMED Srl |
Small molecule inhibitor of kinase mediators of the Wnt pathway | small molecules | FDA | 2021-04-16 | — | Endogena Therapeutics, Inc, |
(+)-5-chloro-1-ethyl-3-(2-hydroxy-3-methoxybenzyl)-2-oxoindolin-3-yl dimethylcarbamate | small molecules | FDA | 2021-03-16 | — | MitoChem Therapeutics, Inc. |
Adeno-associated virus serotype 5 containing the human NR2E3 gene | gene therapies | EMA | 2021-02-19 | — | Ocugen Limited |
Chemically induced photoreceptor-like cells | proteins | FDA | 2021-02-18 | — | CiRC Biosciences, Inc. |
DNA plasmid encoding human transferrin gene | oligonucleotides | EMA | 2020-11-13 | — | PulseSight Therapeutics |
DNA plasmid encoding the human transferrin gene | gene therapies | FDA | 2020-09-25 | — | PulseSight Therapeutics |
Adeno-associated virus serotype 2/8 vector containing the human PDE6A gene | gene therapies | EMA | 2020-08-21 | — | Institute For Ophthalmic Research |
Adeno-Associated Virus containing the gene for human Nuclear Hormone Receptor NR2E3 (AAV-hNR2E3) | gene therapies | FDA | 2020-08-07 | — | Ocugen Inc. |
sulindac | small molecules | FDA | 2020-08-04 | — | Prolindox, Inc. |
Adeno-associated viral vector serotype 8 containing cDNA of the human PDE6A protein | gene therapies | FDA | 2020-03-09 | — | Universitätsklinikum Tübingen (UKT) |
antisense oligonucleotide targeting the P23H mutation of the RHO gene | oligonucleotides | FDA | 2019-11-18 | — | ProQR Therapeutics IV B.V. |
2'-O-(2-methoxyethyl)-modified antisense oligonucleotide targeting exon 13 in the USH2A gene | oligonucleotides | EMA | 2018-02-22 | — | Laboratoires Thea |
Adenovirus-associated viral vector serotype 8 containing the human RPGR gene | gene therapies | EMA | 2018-02-22 | — | Biogen Netherlands B.V. |
2¿-O-(2-methoxyethyl) modified antisense oligonucleotide targeting exon 13 in the USH2A gene | oligonucleotides | FDA | 2017-11-20 | — | Laboratoires Théa |
Adeno Associated Virus carried Multi Characteristic Opsin | gene therapies | FDA | 2017-10-03 | — | Nanoscope Therapeutics Inc. |
Antisense oligonucleotide targeting exon 13 in the USH2A gene | oligonucleotides | EMA | 2017-08-23 | — | ProQR Therapeutics IV BV |
Lens epithelial derived growth factor (1-326) | proteins | EMA | 2017-08-23 | — | Dorian Regulatory Affairs B.V. |
recombinant adeno-associated virus vector expressing the retinitis pigmentosa GTPase regulator | gene therapies | FDA | 2017-07-31 | — | Beacon Therapeutics |
antisense oligonucleotide targeting exon 13 of the USH2A gene | oligonucleotides | FDA | 2017-07-27 | — | ProQR Therapeutics IV B.V. |
antisense oligonucleotide targeting the c.7595-2144A>G mutation in intron 40 of the USH2A gene | oligonucleotides | FDA | 2017-06-28 | — | ProQR Therapeutics IV B.V. |
Antisense oligonucleotide targeting the USH2A gene | oligonucleotides | EMA | 2017-03-20 | — | ProQR Therapeutics IV BV |
adeno-associated viral vector serotype 2.7m8 containing the chrimsonR-tdTomato gene | gene therapies | FDA | 2017-01-25 | — | GenSight Biologics |
Adeno-associated viral vector serotype 8 encoding engineered rhodopsin DNA-binding repressor and human rhodopsin expression cassettes | gene therapies | EMA | 2016-12-12 | — | Fondazione Telethon Ets |
adenovirus associated viral vector serotype 5 containing the RPGR gene | gene therapies | FDA | 2016-11-29 | — | Janssen Research & Development, LLC |
Adeno-associated viral vector serotype 5 containing the human RLBP1 gene | gene therapies | EMA | 2016-10-14 | — | Coave Therapeutics |
Adeno-associated viral vector serotype 2/2 containing a gene encoding the channelrhodopsin-2 protein [RST-001] | gene therapies | EMA | 2016-10-14 | — | Allergan Pharmaceuticals International Limited |
Adenovirus associated viral vector serotype 5 containing the human RPGR gene | gene therapies | EMA | 2016-08-29 | — | Janssen-Cilag International N.V. |
Adeno-associated viral vector serotype 2.7m8 containing the ChrimsonR-tdTomato gene | gene therapies | EMA | 2016-07-14 | — | GenSight- Biologics |
adenovirus-associated viral vector serotype 5 containing the human pde6B gene | gene therapies | FDA | 2016-07-05 | — | eyeDNA Therapeutics |
Recombinant adeno-associated viral vector containing the human RPGR gene | gene therapies | EMA | 2016-05-30 | — | FGK Representative Service GmbH |
4-((2E)-1-oxo-3-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2-propen-1-yl)-1-piperazinecarboxamide | small molecules | EMA | 2016-05-30 | — | Shire Pharmaceuticals Ireland Limited |
Allogeneic fetal human retinal progenitor cells expanded ex vivo | cell therapies | EMA | 2016-02-17 | — | Voisin Consulting Life Sciences |
4-[(2E)-1-Oxo-3-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2-propen-1-yl]-1-piperazinecarboxamide | small molecules | FDA | 2016-02-08 | — | Shire HGT, Inc. |
Adenovirus-associated viral vector serotype 2 containing the human RPE65 gene [Luxturna] | gene therapies | EMA | 2015-07-28 | 2018-12-05 | Novartis Europharm Limited |
Recombinant human mesencephalic astrocyte-derived neurotrophic factor | proteins | EMA | 2015-04-24 | — | Regintel Limited |
Sodium 3-[(4aR,6R,7R,7aS)-7-hydroxy-2-oxido-2-sulfanylidene-4a,6,7,7a-tetrahydro-4H-furo[3,2-d][1,3,2]dioxaphosphinin-6-yl]-2-bromo-6-phenyl-5H-imidazo[1,2-a]purin-9-one | gene editing enzymes | EMA | 2015-03-19 | — | Universitätsklinikum Tübingen (UKT) |
Myriocin | small molecules | EMA | 2015-02-12 | — | Nanovector s.r.l. |
human recombinant mesencephalic, astrocyte derived neurotrophic factor | proteins | FDA | 2014-12-22 | — | Amarantus BioScience Holdings, Inc. |
non-replicating recombinant adeno-associated virus vector containing a fragment of the gene encoding channelrhodopsin-2 protein | gene therapies | FDA | 2014-10-20 | — | Allergan, Inc. |
all-cis-docosa-4,7,10,13,16,19-hexaenoic acid | small molecules | FDA | 2014-05-21 | — | Celavista Mitobiogenesis, S.L. |
recombinant lens epithelium derived growth factor 1-326 | proteins | FDA | 2014-05-19 | — | Ocugen, Inc. |
N-acetyl cysteine amide | small molecules | FDA | 2013-12-31 | — | Nacuity Pharmaceuticals, Inc. |
expanded human allogeneic neural retinal progenitor cells extracted from neural retina | cell therapies | FDA | 2013-08-22 | — | ReNeuron Ltd |
recombinant human nerve growth factor | proteins | FDA | 2013-08-08 | — | Dompe S.p.A. |
Unoprostone isopropyl | small molecules | EMA | 2013-06-19 | — | [INACTIVE] Pharmalex UK Services Limited |
Expanded human allogeneic neural retinal progenitor cells extracted from neural retina | cell therapies | EMA | 2013-06-19 | — | Reneuron Ireland Limited |
Adenovirus associated viral vector serotype 5 containing the human pde6ß gene | gene therapies | EMA | 2013-06-19 | — | eyeDNA Therapeutics |
Recombinant human nerve growth factor | proteins | EMA | 2013-06-07 | — | Dompé farmaceutici S.p.A. |
Encapsulated human retinal pigment epithelial cell line transfected with plasmid vector expressing human ciliary neurotrophic factor | cell therapies | EMA | 2013-01-24 | — | Le4d Global Regulatory Science Limited |
adeno-associated viral vector containing DNA encoding an RNAi targeting rhodopsin in combination with an adeno-associated viral vector containing DNA encoding a rhodopsin gene | gene therapies | FDA | 2012-12-13 | — | Spark Therapeutics Ireland Ltd. |
Adeno-associated viral vector serotype 8 encoding an inducible short hairpin RNA targeting claudin-5, Alvespimycin [AT-0002] | gene therapies | EMA | 2012-11-28 | — | [INACTIVE] Alimentary Health Limited |
Adeno-associated viral vector serotype 8 encoding an inducible short hairpin RNA targeting claudin-5, Alvespimycin | small molecules | EMA | 2012-11-08 | — | [INACTIVE] Alimentary Health Limited |
human retinal progenitor cells | cell therapies | FDA | 2012-07-23 | — | jCyte, Inc. |
Recombinant human methionine proinsulin | proteins | EMA | 2012-04-26 | — | ProRetina Therapeutics S.L. |
9-cis-Retinyl acetate | small molecules | EMA | 2011-05-13 | — | Granzer Regulatory Consulting & Services GmbH |
Adeno-associated viral vector serotype 5 containing a rhodopsin gene [GT038] | gene therapies | EMA | 2010-12-17 | — | [INACTIVE] Spark Therapeutics Ireland Limited |
zuretinol acetate | small molecules | FDA | 2010-12-02 | — | Retinagenix LLC |
unoprostone isopropyl | small molecules | FDA | 2010-09-16 | — | R-Tech Ueno, Ltd. |
Epitalon | peptides | FDA | 2010-09-02 | — | BioDiem Ltd |
Recombinant human proinsulin | proteins | EMA | 2009-02-11 | — | ProRetina Therapeutics S.L. |
recombinant human proinsulin (Including rhPI-Methionine) | proteins | FDA | 2008-12-10 | — | ProRetina Therapeutics, S.L. |
Palucorcel [CNTO2476] | cell therapies | EMA | 2008-04-01 | — | Janssen Biologics B.V. |
recombinant human rod-derived cone viability factor | proteins | FDA | 2008-01-07 | — | Fovea Pharmaceuticals |
Rod-derived cone viability factor, recombinant | proteins | EMA | 2007-11-29 | — | [INACTIVE] Fovea Pharmaceuticals |
Adenovirus associated viral vector serotype 4 containing the human RPE65 gene | gene therapies | EMA | 2007-11-14 | — | Coave Therapeutics |
4,7,10,13,16,19-docosahexaenoic acid | small molecules | EMA | 2006-11-03 | — | Celavista Mito-Biogenesis S.L. |
Human umbilical tissue-derived cells | cell therapies | FDA | 2006-03-13 | — | Janssen Research & Development, LLC |
Urea for intravitreal injection | gene therapies | FDA | 2005-12-14 | — | Vitreo Retinal Techologies, Inc |
revakinagene taroretcel | cell therapies | FDA | 2004-09-01 | — | Neurotech USA, Inc. |
Gangliosides as sodium salts | small molecules | FDA | 1988-11-17 | — | Fidia Pharmaceutical Corp. |