Genetic Analysis to Predict the Development of Paget's Disease
Paget DiseasePaget Disease of BonePaget's disease of the bone (PDB) is a skeletal disorder with a strong genetic component which can be associated with various complications such as pain, bone deformity, arthritis and deafness. Recent advances in understanding the genetic determinants of PDB offer the prospect of developing a genetic profiling test which can be offered to people with a parent or sibling with PDB to determine how likely they are to develop the disease themselves. The aim of the study is to perform genetic testing for variants associated with PDB in people aged 45 and above who have a parent or sibling (first degree relative) with the disease. The Investigators will assess how well genetic profiling performs in predicting PDB by performing an imaging technique called a radionuclide bone scan which is a very sensitive way of detecting early PDB. This scan will be performed on entry to the study and again after five years. The reason for performing two scans five years apart because PDB becomes more common with age and so this will allow the Investigators to give an accurate indication of how good the genetic profiling test is in people at different ages. In addition to genetic profiling the investigators will analyse blood samples for biochemical markers of PDB and also test saliva and stool samples for the microbiome profile since its thought that this may influence risk of the disease as well. In the longer term the investigators hope the study will allow them to develop a blood test to stratify for risk of PDB and use bone scans only in people who the clinicians think are at highest risk of developing the disease. This will allow people with PDB to be picked up early allowing treatment to be given in a timely manner.
Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal...
Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal DementiaPaget Disease of Bone2 moreThe investigators are researching families with inherited inclusion body myopathy (IBM) and/or Paget disease of bone (PDB) and/or dementia (FTD) which is also called IBMPFD. IBMPFD is caused by mutations in the VCP gene. Our main goal is to understand how changes in the VCP gene cause the muscle, bone and cognitive problems associated with the disease. The investigators are collecting biological specimen such as blood and urine samples, family and medical histories, questionnaire data of patients with a personal or family history of VCP associated disease. Participants do not need to have all symptoms listed above in order to qualify. A select group of participants may be invited to travel to University of California, Irvine for a two day program of local procedures such as an MRI and bone scan. Samples are coded to maintain confidentiality. Travel is not necessary except for families invited for additional testing.
Pathophysiology of Paget's Disease of Bone
Paget's Disease of BonePaget'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.
Impact on Reducing the Incidence of Low Serum Calcium by Providing Educational Materials on the...
Paget's Disease of the BoneHypocalcemiaThis study will evaluate the impact of investigator and patient education and educational materials to foster calcium and vitamin D supplementation to mitigate the potential for hypocalcemia post Reclast® administration in patients with Paget's disease of bone.
Re-treatment of Participants With Paget's Disease Using Zoledronic Acid
Paget's Disease of the BoneThe purpose of this study was to demonstrate that participants with Paget's disease of the bone who had responded to zoledronic acid treatment as participants in the core registration studies CZOL446K2304 and CZOL446K2305 and later experienced a relapse can be successfully treated with a 5 milligram (mg) infusion of zoledronic acid.
18F-Fluoride Positron Emission Tomography (PET) in Paget's Disease of Bone
Paget's Disease of Bone18 F-fluoride Positron emission tomography (PET) is able to demonstrate and quantify the metabolic activity locally in the skeleton (1). This technique should, therefore, also be able to demonstrate a dramatic decrease in the metabolic activity in localized monostotic Paget's disease lesions after therapy. In this condition, indeed, the usual biological markers may be unhelpful to assess the efficacy of therapy, because they are usually comprised in the normal range for single pagetic localizations, even before therapy (2). The main purpose of this trial is to assess the early and long term response of pagetic bone to bisphosphonate therapy.
A Research Study to Test the Effectiveness of MK0217 in Patients With Paget's Bone Disease (0217-206)(COMPLETED)...
Paget's Disease of BoneTo test the safety, effectiveness of MK0217 when taken once a week for six months in treating patients with Paget's bone disease.
Bisphosphonate Therapy for Osteogenesis Imperfecta
Osteogenesis ImperfectaOsteoporosis1 moreThe study is designed to evaluate the efficacy and safety of "Bisphosphonate Therapy for Osteogenesis Imperfecta (OI)." We, the researchers at Indiana University School of Medicine, are characterizing the changes effected by oral bisphosphonate therapy and comparing them to a regimen of intravenous bisphosphonate therapy in a group of children with OI and also in children with other disorders that result in low bone mass and fractures.
Safety and Efficacy Trial With Zoledronic Acid for the Treatment of Paget's Disease of Bone, Including...
Paget's Disease of BoneThe core study looked at the effect of Zoledronic Acid given once as an intravenous (i.v.) infusion compared to 60 days of oral Risedronate in patients with Paget's disease of bone. The effect was demonstrated in the reduction of serum alkaline phosphatase (SAP). The extended observation period included participants of the core study who responded to treatment.
Efficacy and Safety of Single Dose of 5 mg Zoledronic Acid in Chinese Patients With Paget's Disease...
Paget's Disease of BoneThe purpose of this study is to document the efficacy and safety profiles of single intravenous dose of 5 mg zoledronic acid for the Chinese patients of Paget's Disease of Bone (PDB).