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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
Information provided by:

Study Description
Brief Summary:

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

  Show Detailed Description

Study Design

Study Type : Observational
Actual Enrollment : 83 participants
Observational Model: Family-Based
Time Perspective: Retrospective
Official Title: Genetic Study of Families Affected by Paget's Disease of Bone
Study Start Date : September 2007
Primary Completion Date : September 2008
Study Completion Date : September 2008

Groups and Cohorts


Outcome Measures

Primary Outcome Measures :
  1. 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
collection of extracted DNA, RNA and serum samples and urinary samples

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
15 patients affected by Paget's disease of bone and their relatives at the first or second degree of relativeness total of about 100 individuals

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
Contacts and Locations

Information from the National Library of Medicine

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

CHU Lariboisière
Paris, Ile de France, France, 75010
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Association Rhumatisme et Travail
Study Director: Laetitia Michou, MD PhD CHU Lariboisière
More Information

Responsible Party: Yannick Vacher, Department Clinical Research of Developpement
ClinicalTrials.gov Identifier: NCT00747994     History of Changes
Other Study ID Numbers: P070203
First Posted: September 8, 2008    Key Record Dates
Last Update Posted: July 13, 2010
Last Verified: July 2010

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Paget's disease of bone
Mutations screening
Haplotypes analysis
Linkage analysis
< 55 years
4 > or = WAFFECTED Bones
bone deformity

Additional relevant MeSH terms:
Bone Diseases
Osteitis Deformans
Musculoskeletal Diseases