Self-questionnaire in Osteoporosis
ConditionOsteoporosis
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorCHU de Quebec-Universite Laval
About this trial
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 criteria
This trial does not accept healthy volunteersQualifiers
Adult over 18
Followed by the rheumatology or endocrinology clinics at the CHUL (CHU de Quebec-Universite Laval)
Suffer from osteoporosis
Have internet access
Disqualifiers
Unfit, unable to consent, unable to answer a questionnaire, unknown family history (e.g. adopted person)
Trial population
Adults followed at the rheumatology and endocrinology clinic of the CHUL in Quebec
Trial design
Design model
Case-crossover
Time perspective
Prospective
Treatments tested in this trial
Self-administered questionnaire
Other interventionThe 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 interventionFor 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.
Treatment groups
58 Participants
are divided into 1 treatment groupGroup A: Group starting with the self-administered questionnaire followed by the family tree and vice versa2 interventions
Trial outcomes
Primary outcomes
1
Concordance between the results of the self-questionnaire compared to those obtained by a family tree.
Descriptive statistics will first be performed to characterize the participants (age, sex, number of first- and second-degree relatives, as well as the clinical manifestations detailed in the self-administered questionnaire) and to report, based on the relationship, the frequency of different clinical manifestations in relatives. In this study, the pedigree will serve as the gold standard for describing the presence or absence of familial bone disease, specifying the degree of affected kinship, the type of inheritance, and the most likely diagnosis (e.g., hypophosphatasia, osteogenesis imperfecta, etc.). The concordance between the responses provided by the self-administered questionnaire and the information from the pedigree will be primarily assessed by calculating the kappa coefficient. This analysis will constitute the main statistical approach of the study.
Time frame
3 monthsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov