Fibrous Dysplasia
Fibrous dysplasia is a rare bone disorder characterized by the abnormal growth and development of fibrous tissue within the bones, leading to structural instability and functional impairments. Our company stands out in the field of rare disease diagnostics and therapeutics development and is committed to providing comprehensive services for researchers.
Overview of Fibrous Dysplasia
The intricate nature of fibrous dysplasia lies in the replacement of normal bone tissue with fibrous connective tissue, resulting in a weaker and less stable bone structure. This aberrant growth can manifest into bone deformities, fractures, and limitations in mobility. Moreover, the vexing challenges presented by fibrous dysplasia extend to the compression of nearby structures such as nerves and blood vessels, exacerbating the complexity of the disorder.
Fig.1 Characteristic histologic features of fibrous dysplasia. (Hartley, I., et al., 2019)Pathogenesis of Fibrous Dysplasia
The pathogenesis of fibrous dysplasia is a genetic mutation within the GNAS gene, precipitating mosaic Gα s activation and the dysregulated production of intracellular cyclic adenosine monophosphate (cAMP). This genetic aberration sets in motion a cascade of events leading to the anomalous proliferation of fibrous tissue at the expense of normal bone structure. The resultant fibrous tissue, characterized by its inherent weakness, predisposes individuals to bone deformities, fractures, and debilitating pain.
Fig.2 Fibrous dysplasia pathology mechanism. (Kim, H. Y., et al., 2023)Therapeutics Development of Fibrous Dysplasia
| Types | Drug Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Small Molecule Drug | Pamidronate | Inhibition of osteoclast function and proliferation | Bone resorption / bone formation | Phase II trials |
| Alendronate | Inhibition of osteoclast function and proliferation | Bone resorption / bone formation | Phase II trials | |
| Suramin sodium | Mutant Gsα inhibition | Gsα | Preclinical research | |
| Antibody | Denosumab | Osteoclast activation suppression | RANKL | Phase IV trials |
| Tocilizumab | RANKL production suppression | RANKL | Phase II trials | |
| Gene Therapy | Gsα gene editor | Gsα mutation correction | Gsα | Preclinical research |
Our Services
In our collaborative journey with researchers, we offer a synergistic blend of state-of-the-art technologies and expertise in rare diseases. Through our robust animal model and therapeutics development platforms, we empower researchers to unravel the intricacies of fibrous dysplasia pathogenesis and explore novel therapeutic strategies.
Platforms of Fibrous Dysplasia Therapy Development
Animal Models of Fibrous Dysplasia
Animal models provide valuable insight into the pathogenesis of fibrous dysplasia, and potential therapy strategies, and can aid in the development of novel therapies for this rare bone disorder. Our company offers a variety of animal models to support your research.
Xenotransplantation Models
In fibrous dysplasia transplantation models, human fibrous dysplasia tissues or cells are transplanted into animals to study their behavior and interactions.
Optional Models: Human-derived stromal cell transplantation model, etc.
Genetically Engineered Models
Genetic engineering animal models involve altering the genes (such as GNAS) associated with fibrous dysplasia to mimic the disease phenotype.
Optional Models: Prrx1-Gutkind model; EF1α-Riminucci model, etc.
Why Choose Us
We understand the unique challenges and complexities of rare diseases, and our team of experts is dedicated to supporting researchers every step of the way, including pharmacokinetic study and biosafety evaluation, we ensure that you have the resources and support you need to advance your work.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Kim, Ha-Young et al. "A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects." International journal of molecular sciences 24.21 (2023): 15591.
- Hartley, Iris et al. "Fibrous Dysplasia of Bone and McCune-Albright Syndrome: A Bench to Bedside Review." Calcified tissue international 104.5 (2019): 517-529.
- Hopkins, Chelsea et al. "Fibrous dysplasia animal models: A systematic review." Bone 155 (2022): 116270.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.