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 learn about pregnancy outcomes in osteogenesis imperfecta (OI). Patients enrolled in the Brittle Bone Disorders (BBD) Contact Registry (CR) will be invited via email to participate in this study.
Detailed description
Population: The RDCRN BBD Contact Registry helps researchers identify and recruit patients who are eligible for participation in future research studies. People eligible for enrollment in the RDCRN BBD Contact Registry include patients and parents of patients with Brittle Bone Disorders. All patients with BBD from the United States and around the world are encouraged to join. Survey Administration: The investigators will administer a review of pregnancy outcomes survey and delineate the outcomes in pregnancies complicated by varying forms of OI. Patients will be sent an email invitation describing the study. If the participant wants to participate and is eligible, she will follow the survey link in the email message, which directs her to an IRB-approved online consent form. A unique survey link will be generated for each participant and included in the survey invitation, which is a customized email message. This link will allow the investigators to determine who completed the survey. The investigators will send repeat email invitations every two months (total of 3 invitations) to those invitees who have not yet participated. The investigators will allow approximately 6 months for enrollment and survey completion and expect that the study will close soon thereafter. Data: The survey data will be collected and stored at the Rare Diseases Clinical Research Network's Data Management and Coordinating Center (DMCC) at the University of South Florida. All data collected will be sent to the database of Genotypes and Phenotypes (dbGaP) to be stored indefinitely.
Interventions
OTHERWeb-based Survey
Patients will be sent an email invitation describing the study. If the participant wants to participate and is eligible, she will follow the survey link in the email message, which directs her to an IRB-approved online consent form. A unique survey link will be generated for each participant and included in the survey invitation, which is a customized email message. This link will allow the investigators to determine who completed the survey. The investigators will send repeat email invitations every two months (total of 3 invitations) to those invitees who have not yet participated. The investigators will allow approximately 6 months for enrollment and survey completion and expect that the study will close soon thereafter.
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
FEMALE
Healthy volunteers
No
Inclusion criteria
* Female with OI who has delivered an infant of at least 24 weeks' gestation * Participant in the BBD Contact Registry
Exclusion criteria
* Inability to provide informed consent and complete survey * Males * Women with OI who have not delivered children and gestations associated with higher order multiples
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Pregnancy in OI Assessment | 1 year | The goal of this survey is to characterize the course and outcome of pregnancy in individuals with OI. This is a self-report survey that will review pregnancy outcomes (maternal and fetal). Measures of pregnancy outcome will include 1) length of gestation, 2) mode of delivery, 3) neonatal outcomes including birth weight and length, 4) history of back pain or hip pain and or fractures during pregnancy or postpartum 5) number of maternal hospital admissions 6) calcium and vitamin D intake, 7) neonatal complications and 8) OI status in the fetus. One survey will be completed for each gestation (pregnancy). |
Countries
United States
Outcome results
None listed