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Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02793063
Recruitment Status : Completed
First Posted : June 8, 2016
Last Update Posted : March 6, 2018
Rare Diseases Clinical Research Network
National Institutes of Health (NIH)
Information provided by (Responsible Party):
University of South Florida

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.

Condition or disease Intervention/treatment
Osteogenesis Imperfecta Brittle Bone Disorders Other: Web-based Survey

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.

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Study Type : Observational
Actual Enrollment : 300 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Rare Diseases Clinical Research Network Brittle Bone Disorders Consortium Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2
Study Start Date : June 2016
Actual Primary Completion Date : August 10, 2016
Actual Study Completion Date : August 10, 2016

Group/Cohort Intervention/treatment
BBD Consortium Contact Registrants
Osteogenesis Imperfecta patients who have self-registered at the Brittle Bone Disorders Consortium (BBD) Consortium Contact Registry, a web-based contact registry developed and supported by the Data Management and Coordinating Center (DMCC) for the Rare Diseases Clinical Research Consortium (RDCRN), located at the University of South Florida.
Other: Web-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.

Primary Outcome Measures :
  1. Validated Computer Adaptive Testing (CAT) PROMIS instruments [ Time Frame: 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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Osteogenesis Imperfecta who are enrolled in the RDCRN BBD Contact Registry

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02793063

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United States, Florida
University of South Florida, Health Informatics Institute
Tampa, Florida, United States, 33612
Sponsors and Collaborators
University of South Florida
Rare Diseases Clinical Research Network
National Institutes of Health (NIH)
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Principal Investigator: Jeffrey Krischer, Ph.D. University of South Florida
Principal Investigator: Laura Tosi, M.D. Children's National Research Institute
Study Chair: Jeffrey Krischer, Ph.D. University of South Florida
Study Chair: Laura Tois, M.D. Children's National Research Institute
Publications of Results:
Other Publications:
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Responsible Party: University of South Florida Identifier: NCT02793063    
Other Study ID Numbers: BBD7702
U01TR001263 ( U.S. NIH Grant/Contract )
First Posted: June 8, 2016    Key Record Dates
Last Update Posted: March 6, 2018
Last Verified: March 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by University of South Florida:
Brittle Bone
Osteogenesis Imperfecta
Congenital Abnormalities
Congenital Bone Disorder
Lobstein Syndrome
Additional relevant MeSH terms:
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Osteogenesis Imperfecta
Bone Diseases
Bone Diseases, Developmental
Musculoskeletal Diseases
Genetic Diseases, Inborn
Collagen Diseases
Connective Tissue Diseases