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NCT ID: NCT05309954 Recruiting - Clinical trials for Paget Disease of Bone

Genetic Analysis to Predict the Development of Paget's Disease

GAPDPD
Start date: January 1, 2022
Phase:
Study type: Observational

Paget'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.

NCT ID: NCT02802384 Active, not recruiting - Clinical trials for Paget's Disease of Bone

Pathophysiology of Paget's Disease of Bone

Start date: April 2016
Phase:
Study type: Observational

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.

NCT ID: NCT02106455 Completed - Clinical trials for Osseous Paget's Disease

Sodium Risedronate Tablets - Special Drug Use Surveillance in Patients With Osseous Paget's Disease (All-case Surveillance) -48-week Surveillance −

Start date: August 1, 2008
Phase:
Study type: Observational

The purpose of this study is to evaluate the safety and efficacy of sodium risedronate tablets administered once daily (one tablet per dose) in patients with osseous Paget's disease for 48 weeks from baseline in daily medical practice.

NCT ID: NCT01353430 Recruiting - Clinical trials for Frontotemporal Dementia

Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)

Start date: November 15, 2007
Phase:
Study type: Observational

The 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.

NCT ID: NCT00774020 Completed - Clinical trials for Paget's Disease of Bone

Efficacy and Safety of Single Dose of 5 mg Zoledronic Acid in Chinese Patients With Paget's Disease of Bone (PDB)

Start date: October 30, 2008
Phase: Phase 4
Study type: Interventional

The 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).

NCT ID: NCT00747994 Completed - Clinical trials for Paget's Disease of Bone

Genetic Study of Families Affected by Paget's Disease of Bone

PAGET
Start date: September 2007
Phase: N/A
Study type: Observational

Paget's disease of bone is a frequent bone disorder which usually starts after the age of 40 and which is characterized by bone pain and deformities. Although often without any symptoms, this disease may have severe complications such as fissures, fractures, neurological compression, or deafness. In some cases, it is a genetic disorder transmitted with a dominant autosomal pattern of inheritance: one of the two parents carrying the disease transmits it to his offspring with a risk of 50% for each child. Since 2002, the first gene involved in Paget's disease of bone is known and 14 mutations of this gene have been published. A study confirmed that the presence of those mutations was associated with younger age of onset and more extensive disease. Thus, the knowledge of those genetic factors in the relatives of an affected individual allows the screening of the patients with a higher risk for complications, who may benefit from a medical follow up and earlier treatment, in order to avoid complications. Indeed, Paget's disease of bone may be treated efficiently by bisphosphonates. This project aims at identifying and collecting over one year, 15 affected individuals affected by Paget's disease of bone and the relatives up to the second degree of relativeness (a total of 100 individuals is expected). The blood samples may be analysed in order to search for mutations of the previously known gene and/or to search for new mutations on new genes.

NCT ID: NCT00740129 Completed - Clinical trials for Paget's Disease of the Bone

Re-treatment of Participants With Paget's Disease Using Zoledronic Acid

Start date: October 21, 2008
Phase: Phase 4
Study type: Interventional

The 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.

NCT ID: NCT00668200 Completed - Hypocalcemia Clinical Trials

Impact on Reducing the Incidence of Low Serum Calcium by Providing Educational Materials on the Need to Take Daily Supplemental Calcium and Vitamin D to Patients With Paget's Disease Treated With Reclast®

Start date: May 2008
Phase: Phase 4
Study type: Interventional

This 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.

NCT ID: NCT00480662 Completed - Clinical trials for Paget's Disease of Bone

A Research Study to Test the Effectiveness of MK0217 in Patients With Paget's Bone Disease (0217-206)(COMPLETED)

Start date: October 2001
Phase: Phase 3
Study type: Interventional

To test the safety, effectiveness of MK0217 when taken once a week for six months in treating patients with Paget's bone disease.

NCT ID: NCT00403598 Not yet recruiting - Osteoporosis Clinical Trials

Preliminary Study for Identification of Calcium-Binding Proteins in the Serum in Various Metabolic Bone Disorders

Start date: n/a
Phase: N/A
Study type: Observational

The purpose of this study is to determine whether the serum levels of certain calcium-binding proteins may be helpful in the diagnosis and management of metabolic bone diseases.