Status:
COMPLETED
Genetic Study of Families Affected by Paget's Disease of Bone
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Collaborating Sponsors:
Novartis
Association Rhumatisme et Travail
Conditions:
Paget's Disease of Bone
Eligibility:
All Genders
18+ years
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 ...
Detailed Description
Background : Paget's disease of bone is a chronic bone disorder with a late onset, usually after the age of 40. This disease is transmitted on a dominant autosomal pattern of inheritance with incomple...
Eligibility Criteria
Inclusion
- Patient aged over 18 years,
- patient who underwent a clinical examination,
- patient who gave its written consent,
- 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.
- 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
- 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
Key Trial Info
Start Date :
September 1 2007
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
September 1 2008
Estimated Enrollment :
83 Patients enrolled
Trial Details
Trial ID
NCT00747994
Start Date
September 1 2007
End Date
September 1 2008
Last Update
July 13 2010
Active Locations (1)
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1
CHU Lariboisière
Paris, Île-de-France Region, France, 75010