Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

NCT ID: NCT05317637

Last Updated: 2025-12-03

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Total Enrollment: 18 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2022-08-01
• Study Completion Date: 2026-09-01

Brief 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.

Detailed 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.

Conditions

Osteogenesis Imperfecta

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Adults with OI

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.

No interventions assigned to this group

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Baylor College of Medicine

OTHER

Sponsor Role: lead

Responsible Party

Brendan Lee

Consortium PI

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Vernon Sutton, MD

Role: PRINCIPAL_INVESTIGATOR

Baylor College of Medicine

Kathleen Raggio

Role: STUDY_CHAIR

Hospital for Special Surgery, New York

Locations

University of California Los Angeles

Los Angeles, California, United States

Kennedy Krieger Institute / Hugo W. Moser Research Institute

Baltimore, Maryland, United States

Hospital for Special Surgery

New York, New York, United States

Countries

United States

Other Identifiers

H49848

Identifier Type: -

Identifier Source: org_study_id