Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

Osteogenesis Imperfecta Clinical Trial

Official title:

Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05317637
• Other study ID #: H49848
• Status: Recruiting
• Start date: August 1, 2022
• Est. completion date: September 1, 2026

Study information

• Verified date: November 2023
• Source: Baylor College of Medicine
• Contact: Dianne Nguyen
• Phone: 713.798.6694
• Email: diannen[@]bcm.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 18
• Est. completion date: September 1, 2026
• Est. primary completion date: December 1, 2024
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Osteogenesis Imperfecta

Locations

Country	Name	City	State
United States	Kennedy Krieger Institute / Hugo W. Moser Research Institute	Baltimore	Maryland
United States	University of California Los Angeles	Los Angeles	California
United States	Hospital for Special Surgery	New York	New York

Sponsors (1)

Lead Sponsor	Collaborator
Baylor College of Medicine

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Scoliosis	Measurement of spinal scoliosis, kyphosis, lordosis and vertebral fractures including curve measurement based on standing plane films of thorax/abdomen exposed for bone imaging	12 months
Primary	proportion of restrictive lung physiology	FEV1/FVC greater than or equal to 80%, which is obtained from PFT	12 months
Secondary	Presence and severity of Bronchial Wall Thickening	measurement of percent of bronchial diameter subsumed by wall thickness	12 months
Secondary	Vital lung capacity	Vital capacity/total lung capacity/chest volume prediction based on 1) readings by trained chest CT readers and 2) 3-D lung imaging calculation	12 months
Secondary	Presences of pulmonary fibrosis	Presence of pulmonary fibrosis based on readings by trained chest CT readers	12 months
Secondary	Change in lung tissue	location of bronchiectasis, and presence of atelectasis based on readings by trained chest CT readers	12 months