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.
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.
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.