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Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

NCT05317637 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 18

Last updated 2026-03-02

No results posted yet for this study

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.

Conditions

Sponsors & Collaborators

  • Baylor College of Medicine

    lead OTHER

Principal Investigators

  • Vernon Sutton, MD · Baylor College of Medicine

  • Kathleen Raggio · Hospital for Special Surgery, New York

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-08-01
Primary Completion
2026-08-31
Completion
2027-09-01

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05317637 on ClinicalTrials.gov