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Active, Not Recruiting

NCT Number: NCT05317637

Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

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

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University of California Los Angeles, Los Angeles, California, United States

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About this study

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.

Who can participate

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. proportion of restrictive lung physiology

    Time frame: 12 months

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

Secondary outcomes

  1. Presence and severity of Bronchial Wall Thickening

    Time frame: 12 months

    measurement of percent of bronchial diameter subsumed by wall thickness

  2. Vital lung capacity

    Time frame: 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

  3. Presences of pulmonary fibrosis

    Time frame: 12 months

    Presence of pulmonary fibrosis based on readings by trained chest CT readers

  4. Change in lung tissue

    Time frame: 12 months

    location of bronchiectasis, and presence of atelectasis based on readings by trained chest CT readers

Other outcomes

  1. Scoliosis

    Time frame: 12 months

    Measurement of spinal scoliosis, kyphosis, lordosis and vertebral fractures including curve measurement based on standing plane films of thorax/abdomen exposed for bone imaging

Sponsors and collaborators

Lead sponsor

Baylor College of Medicine

Other

Registry information

Important dates

Study start
2022
Primary completion
2026
Study completion
2027
First posted
Apr 8, 2022
Registry last updated
Mar 2, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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