Genetic Study of Families Affected by Paget's Disease of Bone (PAGET)
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|ClinicalTrials.gov Identifier: NCT00747994|
Recruitment Status : Completed
First Posted : September 8, 2008
Last Update Posted : July 13, 2010
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.
|Condition or disease|
|Paget's Disease of Bone|
|Study Type :||Observational|
|Actual Enrollment :||83 participants|
|Official Title:||Genetic Study of Families Affected by Paget's Disease of Bone|
|Study Start Date :||September 2007|
|Actual Primary Completion Date :||September 2008|
|Actual Study Completion Date :||September 2008|
- To identify new mutations or new haplotypes of mutations already identified, and/or to identify new mutations in new genes of Paget's disease of bone. [ Time Frame: 2007-2008 ]
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): NCT00747994
|Paris, Ile de France, France, 75010|
|Study Director:||Laetitia Michou, MD PhD||CHU Lariboisière|