Self-questionnaire in Osteoporosis

NCT07067827 | Recruiting

• 1 other identifier: 2026-8073
• Study Type: observational
• Target: 58
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Osteoporosis

Keywords

osteoporosis; self-administered questionnaire; family history; rare genetic bone diseases

Outcome Measures

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.

  3 months

Study Arms (1)

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.

Other: Self-administered questionnaire; Other: Family tree

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.

Group starting with the self-administered questionnaire followed by the family tree and vice versa

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.

Group starting with the self-administered questionnaire followed by the family tree and vice versa

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Adults followed at the rheumatology and endocrinology clinic of the CHUL in Quebec

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• CHU de Quebec-Universite Laval: lead

Study Sites (1)

CHU de Quebec-Universite Laval

Québec, Quebec, G1V4G2, Canada

RECRUITING

MeSH Terms

Conditions

Osteoporosis

Interventions

Pedigree

Condition Hierarchy (Ancestors)

Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Genetic Techniques; Investigative Techniques

Study Officials

• Laetitia Michou, MD PhD

  CHU de Quebec-Universite Laval

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Laetitia Michou, MD PhD

CONTACT

+14185254444; laetitia.michou@crchudequebec.ulaval.ca

Study Design

• Study Type: observational
• Observational Model: CASE CROSSOVER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 7, 2025
• First Posted: July 16, 2025
• Study Start: July 30, 2025
• Primary Completion (Estimated): July 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: August 8, 2025

Record last verified: 2025-08

Locations

CA (1)