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Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

About

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.

Study Type
Observational

Eligibility

Gender
All
Minimum Age
18 Years
Maximum Age
N/A

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

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Study Stats
Protocol No.
22-000122
Category
Musculoskeletal Disorders
Contact
SARAH GAUNT
Location
  • UCLA Westwood
For Providers
NCT No.
NCT05317637
For detailed technical eligibility, visit ClinicalTrials.gov.