Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

Recruiting

• Conditions: Osteogenesis Imperfecta

• Registration Number: NCT05317637
• Lead Sponsor: Baylor College of Medicine

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.

Study Timeline

• Study First Submitted: 2021-08-23
• Study First Submitted QC: 2022-03-31
• Study First Posted: 2022-04-08
• Study Start: 2022-08-01
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-02
• Last Update Posted: 2024-12-04
• Primary Completion: 2025-08-31
• Study Completion: 2026-09-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 18

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
proportion of restrictive lung physiology	12 months	FEV1/FVC greater than or equal to 80%, which is obtained from PFT

Secondary Outcome Measures

Name	Time	Method
Presence and severity of Bronchial Wall Thickening	12 months	measurement of percent of bronchial diameter subsumed by wall thickness
Change in lung tissue	12 months	location of bronchiectasis, and presence of atelectasis based on readings by trained chest CT readers
Presences of pulmonary fibrosis	12 months	Presence of pulmonary fibrosis based on readings by trained chest CT readers
Vital lung capacity	12 months	Vital capacity/total lung capacity/chest volume prediction based on 1) readings by trained chest CT readers and 2) 3-D lung imaging calculation

Trial Locations

Locations (3)

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