What is the purpose of this study?
The purpose of this study is to learn about pregnancy outcomes in women with Osteogenesis Imperfecta (OI).
What does this study involve?
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. This survey will take approximately 20 minutes to complete. One survey will be completed for each gestation (pregnancy).
The information collected for this study will be stored in a computer database at the Data Management and Coordinating Center at the University of South Florida in Tampa, FLof the Rare Diseases Clinical Research Network (RDCRN) and also sent to a Federal data repository (dbGaP). A data repository provides a way for researchers to store the information collected during the research study for future research studies. The data management center uses several layers of protection for the clinical data stored in its computer database. It meets all of the local and federal security requirements for research datacenters.
How many people will be in this study?
100
To be able to participate, you must be:
- A woman with OI who has delivered children
- Registered in the RDCRN Brittle Bone Disorders Consortium (BBD) Contact Registry
What are the possible risks of the study?
The only risk of participation is the potential loss of privacy, similar to that encountered through everyday use of the internet.
Are there benefits to being in the study?
There are no direct benefits to you for completing the survey. By taking part in this survey you may contribute to knowledge and future research of brittle bone disorders.
Will taking part in this research study cost me anything?
There are no costs to you for participating in this research study.
Registration on ClinicalTrials.gov
A description of this clinical trial will be available on http://www.ClinicalTrials.gov. This website will not include information that can identify you. At most, the website will include a description of the study or a summary of the results. You can search this website at any time.
Who do I contact for questions?
We greatly appreciate your interest in this study and in advancing the understanding of Osteogenesis Imperfecta.
In order to participate, you must personally contact the study project manager by phone or by e-mail. Please use the information below to inquire about participation.
Principal Investigator: Deborah Krakow, M.D.
University of California Los Angeles
Contact: Amoy Fraser, Study Project Manager
Address: University of South Florida
3650 Spectrum Blvd, Suite 100,
Tampa, Florida 33612-9446
Phone: 813-396-9462
Email: Amoy.Fraser@epi.USF.edu
Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.
Summary
Osteogenesis imperfecta (OI) is a group of congenital and heritable bone disorders that currently affects at least 50,000 people in the United States. OI varies in severity from perinatally lethal to mild forms. The majority of cases is caused by a dominant mutation in type I collagen genes (COL1α1 and COL1α2), altering the quantity or quality of type I collagen.
Although OI is typically characterized as a disease of the bone, it is perhaps more accurately described as a connective tissue disorder. Type I collagen is a major constituent of lung connective tissue. Respiratory insufficiency is the leading cause of death in patients with OI. Thus, it is important and necessary to understand the etiology of the restrictive pulmonary physiology in the OI population.
Details
This study is cross-sectional. At the participant's one study visit, data will be obtained at a single point in time and reflect the patients' current condition. Evaluations will include family and medical history, self-report questionnaires, physical evaluation, diagnostic studies, and radiographic studies. Eighteen participants will be enrolled, ideally within one year. Participants will be enrolled regardless of OI type since Bronchial Wall Thickening, a finding we are attempting to validate, was observed in all types of OI. Interested males with OI will be preferred over females to compensate for our highly female original cohort and determine if sexual dimorphism exists for cardiopulmonary outcomes in people with OI. Smokers will not be excluded.
Keywords
Osteogenesis Imperfecta
Enrollment
To be eligible to participate, you must be:
- Individuals who are able to give informed consent or have a legally authorized representative capable of giving consent on the subject's behalf
- Individuals ages 18 and older of all races and sexes
- Individuals who have been diagnosed with OI clinically and/or genetically
You are not eligible to participate if:
- Individuals diagnosed with respiratory illness within 6 weeks of enrollment or undergoing diagnostic studies for an active illness.
- Individuals with other skeletal dysplasia or genetic diagnosis
- Individuals diagnosed with cardiopulmonary comorbidities that affect lung compliance
How to participate:
We greatly appreciate your interest in this study and in advancing the understanding of Osteogenesis Imperfecta.
In order to participate, you must contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.
Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.