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Hereditary ophthalmic diseases are a diverse group of genetic disorders that primarily affect the structure and function of the eye. These inherited conditions can lead to a wide range of vision impairments, from mild refractive errors to complete blindness. At Protheragen, our team of experienced rare disease and biology experts has been working for many years to improve one-stop genetic eye disease drug and therapy development solutions.
Hereditary ophthalmic diseases are a diverse group of conditions caused by alterations in genetic code that lead to vision impairment or blindness. These diseases affect various components of the eye, including the retina, optic nerve, and other ocular tissues. Over 350 eye diseases have been attributed to hereditary factors, with conditions such as albinism, age-related macular degeneration (AMD), colorblindness, cataracts, glaucoma, night blindness, and retinitis pigmentosa being well-documented. These diseases not only impact the individual's quality of life but also pose significant socioeconomic challenges due to the associated healthcare costs and loss of productivity.
Fig.1 Genomics in hereditary eye diseases. (Singh M, et al., 2018)The etiology of hereditary ophthalmic diseases is rooted in genetic abnormalities that disrupt the normal development, structure, or function of the visual system. Researchers have identified numerous genes and genetic pathways implicated in a variety of inherited eye conditions, including anophthalmia, aniridia, albinism, anterior segment dysgenesis, Marfan syndrome, ectopia lentis, neurofibromatosis, and familial exudative vitreoretinopathy.
For instance, mutations in the SOX2 gene can lead to a complete failure of the primary optic vesicle outgrowth, resulting in anophthalmia. Similarly, defects in the PITX2 and FOXC1 transcription factor genes have been linked to the spectrum of anterior segment dysgenesis disorders. The PAX6 gene, a critical regulator of eye development, is frequently associated with chromosomal abnormalities and deletions in aniridia patients. Marfan syndrome, on the other hand, is caused by mutations in the FBN1 gene encoding the structural protein fibrillin, leading to connective tissue and ocular complications.
The development of drugs and therapies for hereditary ophthalmic diseases is an active area of research. While many diseases lack curative therapies, recent advances have brought new hope. Gene therapy, for example, has shown promise in treating diseases like Leber congenital amaurosis, with successful clinical trials demonstrating improved vision in affected individuals. Additionally, the use of anti-VEGF therapies has revolutionized the therapeutic of wet AMD, providing a targeted approach to manage this progressive disease. However, the field still faces challenges, including the need for better genetic understanding, improved delivery methods, and more effective therapeutics for the diverse range of hereditary ophthalmic diseases.
Table 1. Clinical trials registered on clinicaltrials.gov for different hereditary ophthalmic diseases. (Niu Y., et al., 2024)
| NCT Number | Conditions | Study Title | Study Status | Phases |
| NCT01691261 | Age Related Macular Degeneration | A Study Of Implantation Of Retinal Pigment Epithelium In Subjects With Acute Wet Age Related Macular Degeneration | Recruiting | Phase1 |
| NCT04339764 | Age-Related Macular Degeneration | Autologous Transplantation of Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium for Geographic Atrophy Associated With Age-Related Macular Degeneration | Recruiting | Phase1| Phase2 |
| NCT03957954 | Limbal Stem-cell Deficiency | Stem Cell Therapy for Limbal Stem Cell Deficiency | Recruiting | Phase1 |
| NCT05187104 | Age-Related Macular Degeneration | Treatment of Age-related Macular Degeneration Using Retinal Stem and Progenitor Cells | Enrolling_by_invitation | Phase1| Phase2 |
| NCT03884569 | Limbal Stem-cell Deficiency | Cultivated Limbal Epithelial Transplantation (CLET) for Limbal Stem Cell Deficiency (LSCD) | Not_yet_Recruiting | Unknown |
| NCT05658237 | Myopic Chorioretinal Atrophy | Clinical Study of PAL-222 Targeting Patients With Myopic Chorioretinal Atrophy (PAMyCA) | Recruiting | Unknown |
| NCT03102138 | Age Related Macular Degeneration | Retinal Pigment Epithelium Safety Study For Patients In B4711001 | Not_yet_Recruiting | Unknown |
| NCT03944239 | Retinitis Pigmentosa | Safety and Efficacy of Subretinal Transplantation of Clinical Human Embryonic Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Retinitis Pigmentosa | Unknown | Phase1 |
Disclaimer: Protheragen focuses on providing preclinical research service. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Protheragen is committed to advancing the field of hereditary ophthalmic disease therapeutic through innovative drug and therapy development services. Our approach is grounded in a deep understanding of the genetic underpinnings of these diseases, allowing us to develop targeted and personalized therapeutic strategies.
At Protheragen, we pride ourselves on our unwavering commitment to delivering cutting-edge drug and therapy development solutions for hereditary ophthalmic diseases. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
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