Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

Running, not enrolling

Conditions studied: Osteogenesis Imperfecta

In brief

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.

Key facts

Study ID

NCT05317637

Run by

Baylor College of Medicine

People needed

18

Starts

2022-08-01

Expected to finish

2027-09-01

Last updated by the study team

2026-03-02

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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 may not qualify 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

Where it is running

• 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

Full record on ClinicalTrials.gov

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