RecruitingNCT07067827

Self-questionnaire in Osteoporosis

Clinical Validation of a Self-questionnaire in Adults With Osteoporosis

Sponsor

CHU de Quebec-Universite Laval

Enrollment

58 participants

Start Date

Jul 30, 2025

Study Type

OBSERVATIONAL

Conditions

Osteoporosis

Summary

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.

Eligibility

Min Age: 18 Years

Inclusion Criteria4

Adult over 18
Followed by the rheumatology or endocrinology clinics at the CHUL (CHU de Quebec-Universite Laval)
Suffer from osteoporosis
Have internet access

Exclusion Criteria1

Unfit, unable to consent, unable to answer a questionnaire, unknown family history (e.g. adopted person)

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Interventions

OTHERSelf-administered questionnaire

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.

OTHERFamily tree

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.