Paget's Disease of Bone Clinical Trial
— PAGETOfficial title:
Genetic Study of Families Affected by Paget's Disease of Bone
Verified date | July 2010 |
Source | Assistance Publique - Hôpitaux de Paris |
Contact | n/a |
Is FDA regulated | No |
Health authority | France: Ministry of Health |
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.
Status | Completed |
Enrollment | 83 |
Est. completion date | September 2008 |
Est. primary completion date | September 2008 |
Accepts healthy volunteers | No |
Gender | Both |
Age group | 18 Years and older |
Eligibility |
Inclusion Criteria: - Patient aged over 18 years, - patient who underwent a clinical examination, - patient who gave its written consent, 1. Each individual (index case) affected by Paget's disease of bone (with diagnosis confirmed by alkalies phosphatases analysis and/or imaging with bone scintigraphy and radiographies on the affected sites with a typical aspect of the disease), and : - At least one relative affected by Paget's disease of bone with confirmed diagnosis (see above), - Or an age at diagnosis < 55 years, - Or a polyostotic involvement with at least 4 affected bones, - Or the presence of a bone deformity at the time of the diagnosis. 2. Each relative with established phenotype by imaging (bone scintigraphy and/or radiographies), at first or second degree of relativeness of an index case defined in (a). Exclusion Criteria: - Index case with not confirmed Paget's disease of bone by biological and/or radiological examinations, - Index with confirmed Paget's disease but without relative with the same disease, with an age at diagnosis >55 years, with a number of affected bones <4, without any bone deformity at the time of the diagnosis - Healthy relatives of a Paget patient who refuse to undergo bone scintigraphy and bone radiographies. - Individuals < 18 years - Pregnant or breast - feeding woman-individual living ina sanitary or social establishment - individual under guardianship - individual in an emergency situation - individual unable to give his consent - incarcerated individual - patient not covered by healthcare institutions |
Observational Model: Family-Based, Time Perspective: Retrospective
Country | Name | City | State |
---|---|---|---|
France | CHU Lariboisière | Paris | Ile de France |
Lead Sponsor | Collaborator |
---|---|
Assistance Publique - Hôpitaux de Paris | Association Rhumatisme et Travail, Novartis |
France,
Collet C, Michou L, Audran M, Chasseigneaux S, Hilliquin P, Bardin T, Lemaire I, Cornélis F, Launay JM, Orcel P, Laplanche JL. Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations. J Bone Miner Res. 2007 Feb;22(2):310-7. — View Citation
Morissette J, Laurin N, Brown JP. Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. J Bone Miner Res. 2006 Dec;21 Suppl 2:P38-44. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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. | 2007-2008 | No |
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