Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

NCT05317637 | Active Not Recruiting

• 1 other identifier: H49848
• Study Type: observational
• Target: 18
• Locations: 1 country
• Sites: 3

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.

Conditions

Osteogenesis Imperfecta

Outcome Measures

Primary Outcomes (1)

• proportion of restrictive lung physiology

  FEV1/FVC greater than or equal to 80%, which is obtained from PFT

  12 months

Secondary Outcomes (4)

• Presence and severity of Bronchial Wall Thickening

  12 months

• Vital lung capacity

  12 months

• Presences of pulmonary fibrosis

  12 months

• Change in lung tissue

  12 months

Other Outcomes (1)

• Scoliosis

  12 months

Study Arms (1)

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.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Individuals with Osteogenesis Imperfecta

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

Sponsors & Collaborators

• Baylor College of Medicine: lead

Study Sites (3)

University of California Los Angeles

Los Angeles, California, 90095, United States

Location

Kennedy Krieger Institute / Hugo W. Moser Research Institute

Baltimore, Maryland, 21205, United States

Location

Hospital for Special Surgery

New York, New York, 10021, United States

Location

MeSH Terms

Conditions

Osteogenesis Imperfecta

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Officials

• Vernon Sutton, MD

  Baylor College of Medicine

  PRINCIPAL INVESTIGATOR

• Kathleen Raggio

  Hospital for Special Surgery, New York

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Consortium PI

Study Record Dates

• First Submitted: August 23, 2021
• First Posted: April 8, 2022
• Study Start: August 1, 2022
• Primary Completion (Estimated): August 1, 2026
• Study Completion (Estimated): September 1, 2027
• Last Updated: March 2, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (3)