Paget's Disease of Bone

Paget's Disease of Bone (PDB) represents a chronic skeletal disorder where abnormal bone remodeling creates bone deformities and pain with potential complications such as fractures and neurological issues. Protheragen leads research efforts in this field through partnerships with top experts to further understand PDB. We direct our research towards innovative treatment approaches that target the genetic and environmental components of the disease to improve the quality of life for individuals with this complex condition.

Characteristics of Paget's Disease of Bone

PDB exhibits diverse clinical presentations which vary significantly between different people. Bone deformities which manifest as enlarged or misshapen bones make up the primary features together with ongoing bone and joint pain which can cause stiffness and limitations in movement. The pelvis, skull, spine, and long bones including the femur and tibia are the areas most commonly affected by these deformities. Patients may experience bone fractures and neurological symptoms from nerve compression as potential complications. Individuals may suffer from hearing loss along with cardiovascular problems. The identification of PDB depends on clinical assessment methods and imaging results that exhibit distinct bone changes including cortical thickening and disrupted trabecular patterns. The diagnosis gains additional support from high alkaline phosphatase readings in blood tests and genetic studies of both sequestosome 1 (SQSTM1) and other relevant genes help reveal the genetic basis of the disease.

Advancements in Diagnosis and Treatment

Diagnostics Progress

Imaging: X-rays are the primary tool for diagnosing PDB, revealing features like thickened bone cortex, disrupted trabecular patterns, and bone expansion.
Biochemical Markers: Elevated alkaline phosphatase (ALP) levels serve as critical indicators, though they may be normal in cases with localized lesions.
Bone Scans: Nuclear bone scanning assesses the extent and activity of lesions.

Treatment Advances

Medication: Bisphosphonates are the first-line treatment for PDB, effectively reducing bone resorption and alleviating symptoms. Nitrogen-containing bisphosphonates, like zoledronic acid, offer enhanced efficacy with fewer side effects.
Surgical Options: Joint replacement or fracture repair surgeries are available for managing severe fractures or joint deformities.
Supportive Treatments: Calcium and vitamin D supplements support overall bone health.

Marked endosteal sclerosis with marrow fibrosis.

Fig. 1 Diagnostic flowchart of Paget's disease of bone under different clinical settings. (Rendina D, et al., 2024)

Our Services

Diagnostic Method Development Services for XLH

Protheragen aids researchers in developing diagnostic methods for PDB. We offer extensive services including biochemical marker analysis, focusing on evaluating elevated alkaline phosphatase levels. Additionally, genetic counseling is available to assess risk factors and create personalized management strategies for patients.

Therapy Development Services for XLH

Our therapy development services for PDB focus on treatments like bisphosphonates which manage symptoms while boosting bone health. We conduct research in innovative gene therapy approaches for genetic diseases alongside regenerative medicine strategies which involve stem cell treatments to restore bone tissue.

Model Development Services for XLH

Animal Models:
- Develop models using techniques like sequestosome 1 (SQSTM1) mutations in mice to replicate PDB pathology.
- Utilize virus-induced models to explore how chronic viral infections, may contribute to the disease and its environmental triggers.
Custom Model Services: Protheragen provides tailored model development services to meet specific research needs, allowing for the exploration of unique pathogenic mechanisms and testing of novel interventions in PDB studies.

Protheragen focuses on driving forward new developments and scientific investigation in the field of PDB. Reach out to us right now to discover how our complete range of services will drive your research toward landmark discoveries in PDB treatment and understanding.

Reference

Rendina D, et al. Diagnosis and treatment of Paget's disease of bone: position paper from the Italian Society of Osteoporosis, Mineral Metabolism and Skeletal Diseases (SIOMMMS). J Endocrinol Invest. 2024

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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