Brittle Bone Disorders, Osteogenesis Imperfecta
Conditions
Keywords
Brittle Bone, Osteogenesis Imperfecta, BBD, OI, Congenital Abnormalities, Congenital Bone Disorder, Lobstein Syndrome
Brief summary
The purpose of this study is to explore the patient perspective of disease burden in Osteogenesis Imperfecta (OI). Participants will complete a web-based survey of questions which are usually administered within the Patient-Reported Outcome Measurement Information System (PROMIS) and provide feedback regarding the appropriateness of the questions for someone with OI.
Detailed description
Participants will be recruited through the RDCRN BBD Contact Registry. An email invitation will be sent to all RDCRN BBD Contact Registry participants that meet the inclusion criteria to complete the online PROMIS CAT instruments. The email invitation will contain a link to the informed consent form. Once participants have consented to the study, they will have access to the online instruments. Follow-up emails will be sent to participants that have not completed any of the instruments. Reminder emails will be sent to participants with partially completed instruments. Data will be collected and stored by the RDCRN DMCC at USF. Data from patients co-enrolled in the Longitudinal Study of Osteogenesis Imperfecta and the BBD RDCRN Contact Registry will be linked and compared. Additional disease specific information will be collected by the survey (e.g., information on OI type and diagnosis, height, number of fractures, concurrent medication use, utilization of any mobility aid, hearing aid, or other device that they may use.
Interventions
OTHERWeb-based Survey
This study will occur online. Participants will be asked to complete multiple surveys one time. Participants may receive study reminder emails to complete surveys. Participants will be able to complete the surveys all at once or in multiple sessions. Participants will have approximately 3 months to complete the surveys after consenting.
Sponsors
Rare Diseases Clinical Research Network
National Institutes of Health (NIH)
University of South Florida
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
2 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Enrollment in the RDCRN BBD Contact Registry English speaking Age 2 to adult
Exclusion criteria
* Inability to provide informed consent Inability to complete instruments
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Validated Computer Adaptive Testing (CAT) PROMIS instruments | 3 months | An online assessment will be used to obtain responses for each instrument. Scores for each are norm-based with a mean of 50 and standard deviation of 10 based upon the general population. Calibration of the standard error (SE) surrounding the reported score is possible. Default setting of 0.30 will be used for standard error with the minimum number of questions per item of 4 and maximum number of questions 8, using the computer adapted testing structure of the PROMIS instruments. Lower maximum number than the default settings will be used to avoid too many questions being given to a respondent when they do not report a diminished quality of life on any dimension. With these settings, survey respondents will be administered an average of 4-5 items per instrument and the testing among patients with OI indicate that the whole assessment will typically take 15-30 minutes in most instances. |
Countries
United States
Outcome results
None listed