Retinitis Pigmentosa (RP)
Retinitis pigmentosa (RP) encompasses a variety of genetic disorders with diverse manifestations that can result in vision loss. Early diagnosis and intervention are crucial for enhancing the quality of life for individuals affected by RP. Our company is well-equipped to address your drug and therapy development requirements in Retinitis Pigmentosa therapy.
Introduction to Retinitis Pigmentosa
Retinitis Pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive degeneration of the photoreceptors in the retina, primarily affecting rod cells and subsequently cone cells. It is estimated to affect about 1 in 4,000 people globally, although prevalence can vary significantly between populations. The condition leads to symptoms such as night blindness and a gradual loss of peripheral vision, often progressing to tunnel vision and eventual blindness.
Pathogenesis of Retinitis Pigmentosa
Retinitis Pigmentosa (RP) pathogenesis involves the progressive death of photoreceptor cells and retinal pigment epithelial (RPE) atrophy, primarily through mechanisms like dysregulated apoptosis, necroptosis, and oxidative stress. Genetic mutations lead to the accumulation of misfolded proteins, causing endoplasmic reticulum stress and activating apoptotic pathways. Additionally, chronic inflammation and oxidative damage exacerbate retinal degeneration, contributing to the complex interplay of cellular and molecular disruptions that result in vision loss.
Fig. 1 Three common types of cell death in RP. (Liu, W., et al., 2022)Molecular Diagnosis of Retinitis Pigmentosa
Identifying mutations in over 90 genes linked to RP is essential for diagnosis and classification. The most commonly affected gene is RHO, responsible for about 25-30% of autosomal dominant RP (adRP) cases. Mutations in other genes, such as PRPH2, RPE65, and RPGR, also contribute significantly to different types of RP.
Therapeutics Development of Retinitis Pigmentosa
Tab. 1 Therapeutic approaches in retinitis pigmentosa. (Vingolo, E.M., et al., 2024)
| Type of Therapy | Mechanism of Action | Advantages | Disadvantages |
|---|---|---|---|
| Cell Therapy | Replace dysfunctional retinal cells and release neurotrophic and growth factors. | Good safety profile in particular for MSCs, improvement in visual quality. | Ethical concerns regarding embryonic stem cells (ESCs the potential for malignant growth in induced pluripotent stem cells (iPSCs), challenges in cell manipulation, small sample sizes in clinical trials, and limited follow-up durations. |
| Gene Therapy | Replace the mutated gene with the wild-type. | Numerous trials conducted in both animal models and humans, demonstrating a strong safety profile. | Disease variability, the requirement for individual genotyping, early-stage disease limitations, and the short-lived nature of positive effects. |
| Hyperbaric Oxygen | Enhance oxygen delivery to tissues, supporting the metabolic demands of retinal cells. | Easy administration, improvement in amplitude ERG b wave. | Limited trials, buildup of reactive oxygen species (ROS), and a high incidence of adverse events. |
| Vitamin A Palmitate | The principal element of the visual cycle. | Easy administration, low cost. | Conflicting results in trials, low effectiveness, teratogenic in high dose. |
Our Services
Our company adopts a partnership-driven approach. We collaborate closely with clients to craft tailored, innovative Retinitis Pigmentosa therapy strategies and ensure robust support throughout the process.
Platforms of Retinitis Pigmentosa Therapy Development
Animal Models of Retinitis Pigmentosa
We have established expertise in developing and utilizing relevant animal models that closely mimic the disease characteristics and response to therapy. These models enable us to evaluate the safety and efficacy of potential therapies.
| Non-Genetically Engineering Models | ||
| We provide diverse model choices customized to meet specific research needs related to Retinitis Pigmentosa. These models allow researchers to simulate and study the complex biological processes associated with Retinitis Pigmentosa. | ||
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| Genetically Engineered Models | ||
| Our expertise in genetic engineering techniques, such as CRISPR/Cas9 technology, allows us to generate accurate and reliable models that recapitulate the genetic alterations observed in human Retinitis Pigmentosa. | ||
| Optional Models |
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| Optional Species | Mice, Rats, Non-human primates, Others | |
In addition to these models, our comprehensive services encompass other models that target specific signaling pathways and molecular targets.
If our services align with your goals, please contact us for more details.
References
- Liu, W., et al., "Retinitis Pigmentosa: Progress in Molecular Pathology and Biotherapeutical Strategies." Int J Mol Sci, (2022). 23(9).
- Vingolo, E.M., et al., "Retinitis Pigmentosa: From Pathomolecular Mechanisms to Therapeutic Strategies." Medicina (Kaunas), (2024). 60(1).
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.