Pathophysiology of Paget's Disease of Bone
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|ClinicalTrials.gov Identifier: NCT02802384|
Recruitment Status : Recruiting
First Posted : June 16, 2016
Last Update Posted : June 30, 2020
Paget's disease of the bone is a skeletal disorder which results in increased and disorganized bone remodeling, leading to dense but fragile and expanding bones. The identified genetic causes of Paget's disease of bone only explain why bone is destroyed, but not why the bone formed in its place is abnormal.
Current treatment for people with Paget's disease of the bone is limited to patients with bone pain, thought to be related to high rate of bone turnover (breakdown and rebuilding of bone) and works by slowing down the rate of bone breakdown. The current treatment does not address the excess blood vessels and bone formed.
This research is being done to understand factors that may promote blood vessel and bone formation in Paget's disease of the bone.
|Condition or disease|
|Paget's Disease of Bone|
The genetic mutations found in Paget's disease currently only account for about 15% of cases and are limited to genes that affect osteoclast differentiation and function. These mutations alone are insufficient to explain the full phenotype, particularly hypervascularity and increased bone formation. Through a series of basic science studies, the investigators have recently found that preosteoclasts secrete chemokines to promote migration of various stem cells, which then differentiate into osteoblasts and endothelial cells to support osteogenesis and angiogenesis, respectively.
The investigators will perform a cross sectional study of patients with active Paget's disease of bone compared to similar people without Paget's disease of bone. The goal is to enroll 10 patients with Paget's disease of the bone (cases) and 10 healthy, age- and sex-matched people (controls) whom meet similar exclusion criteria. Participants who consent to the study will undergo a brief history and physical exam, allow review of medical records relevant to their disease, and have one blood (5 tablespoons) sample drawn.
The investigators hypothesize that specific chemokine concentrations are increased in people with Paget's disease of the bone compared to controls. The investigators also hypothesize that these levels correlate with severity of disease. Therefore, the investigators primary objective is to determine if serum chemokine levels are increased in patients with Paget's disease of the bone. The secondary objective is to evaluate if the serum chemokine concentrations correlate with various markers of disease activity. Findings could aid in the clinical monitoring of patients with Paget's disease of the bone and could provide an additional therapeutic target to improve treatment of this painful disease.
|Study Type :||Observational|
|Estimated Enrollment :||20 participants|
|Official Title:||Investigation of Pathophysiology of Angiogenesis and Osteogenesis in Paget's Disease of Bone|
|Study Start Date :||April 2016|
|Estimated Primary Completion Date :||April 2022|
|Estimated Study Completion Date :||June 2022|
People with active Paget's Disease of Bone
Age and sex matched people without history of Paget's Disease of Bone
- Serum chemokine level [ Time Frame: Day 1 ]Compare the serum chemokine concentrations in research participants with Paget's disease of bone to research participants without Paget's disease of bone
- Correlation of chemokine level to Paget's Disease of Bone Pain [ Time Frame: Day 1 ]Correlate the serum chemokine concentration in research participants with Paget's disease of bone to burden of disease as assessed clinically by pain utilizing the Likert pain scale.
- Correlation of chemokine level to alkaline phosphatase concentration [ Time Frame: Day 1 ]Correlate the serum chemokine concentration in research participants with Paget's disease of bone to burden of disease as assessed clinically by serum alkaline phosphatase concentration.
- Correlation of chemokine level to proportion of affected skeleton [ Time Frame: Day 1 ]Correlate the serum chemokine concentration in research participants with Paget's disease to percent of skeleton affected as assessed radiographically by bone scan and x-ray.
- Correlation of chemokine level to number of circulating stem cells [ Time Frame: Day 1 ]Correlate the serum chemokine concentration in research participants to number of circulating mesenchymal stem cell and epithelial progenitor cells.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02802384
|Contact: Janet Crane, M.D.||firstname.lastname@example.org|
|Contact: Xiao Wang, Ph.D.||email@example.com|
|Principal Investigator:||Janet L Crane, M.D.||Johns Hopkins University|