Summary

Eligibility
for people ages 18 years and up (full criteria)
Location
at UCLA
Dates
study started
completion around
Principal Investigator
by Deborah Krakow, MD (ucla)

Description

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.

Details

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.

Keywords

Osteogenesis Imperfecta

Eligibility

You can join if…

Open to people ages 18 years and up

  • 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 CAN'T join 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

Locations

  • University of California Los Angeles accepting new patients
    Los Angeles California 90095 United States
  • Kennedy Krieger Institute / Hugo W. Moser Research Institute accepting new patients
    Baltimore Maryland 21205 United States
  • Hospital for Special Surgery accepting new patients
    New York New York 10021 United States

Lead Scientist at University of California Health

  • Deborah Krakow, MD (ucla)
    Dr. Deborah Krakow holds the Joshua S. and Beth C. Friedman Chair for Women's Genetic Research.

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Baylor College of Medicine
ID
NCT05317637
Study Type
Observational
Participants
Expecting 18 study participants
Last Updated