Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

Baylor College of Medicine

Status: Enrolling

Conditions: Osteogenesis Imperfecta

Study type: Observational

Funder types: Other

Identifiers

NCT05317637

H49848

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 18 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• 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

Exclusion criteria

• 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

Trial design

18 participants in 1 patient group

Adults with OI

Description:

18 participants will be enrolled through in this pilot study. 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. 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. All efforts will be made to complete all data collection and testing on the same day. However, procedures completed within ±12 months will be accepted. Evaluations will include family and medical history, self-report questionnaires, physical evaluation, diagnostic studies, and radiographic studies. Participants will be enrolled regardless of OI type since BWT, a finding we are attempting to validate, was observed in all types of OI. Smokers will not be excluded.