Self-questionnaire in Osteoporosis

Sponsor
CHU de Quebec-Universite Laval
Study ID
NCT07067827
Status
Recruiting
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Conditions

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Not accepted

Interventions

  • Self-administered questionnaire — OTHER
    The self-administered questionnaire was previously prepared by the research team for another project. It includes 14 questions addressing the dentition, fractures, joint hypermobility, height, and eye abnormalities present in the participants or their relatives. This questionnaire covers the clinical manifestations of rare bone diseases such as osteogenesis imperfecta, pycnodysostosis, hypophosphatasia, and osteopetrosis. This self-administered questionnaire will be filled online by participant. Average completion time of 20 minutes.
  • Family tree — OTHER
    For the family tree, this step is done by a telephone interview lasting a maximum of 45 minutes, depending on the size of the participant's family. The researcher will be able to reconstruct the family history with the index case. The family tree will then contain the family history up to the second degree of kinship with respect to the index cases. The information collected through the index cases when creating the family tree must include, for each relative, biological sex, as well as information on the presence or absence of a rare or genetic bone disease and clinical signs associated with these diseases, such as short stature, bone deformities, deafness, eye problems, etc.

Study Details

Osteoporosis is a multifactorial disease in which genetic predispositions play a key role in its development. A better understanding of family history and clinical manifestations among first- and second-degree relatives can help improve early detection and personalized care for at-risk patients. To this end, we will test a self-administered questionnaire previously developed by our research team. This questionnaire includes the main manifestations associated with rare genetic bone diseases such as osteogenesis imperfecta, hypophosphatasia, and osteopetrosis.

Key Dates

Start date
Apr 1, 2026
Status verified
May 2026
Primary completion
Jul 31, 2027
Completion
Dec 31, 2027

Study Design

Enrollment
58 participants (estimated)

Arms

  • Arm: Group starting with the self-administered questionnaire followed by the family tree and vice versa
    Recruited patients will be randomized to either start with the self-administered questionnaire or the family tree. Then, 3 months later, those who started with the questionnaire will be able to do the interview for the family tree and vice versa.

Primary Outcome Measure

Concordance between the results of the self-questionnaire compared to those obtained by a family tree. [ Time Frame: 3 months ]

Central Contacts

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