Clinical trial NCT05317637: Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708
Official title: Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Osteogenesis Imperfecta
Lead sponsor: Baylor College of Medicine
Sponsor class: OTHER
First posted: 2022-04-08
Enrollment: 18
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: PROBABILITY_SAMPLE
Study population: Individuals with Osteogenesis Imperfecta

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.

Detailed 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.

Eligibility criteria: 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

Primary outcomes:
measure: proportion of restrictive lung physiology
timeFrame: 12 months
Secondary outcomes:
measure: Presence and severity of Bronchial Wall Thickening
timeFrame: 12 months
measure: Vital lung capacity
timeFrame: 12 months
measure: Presences of pulmonary fibrosis
timeFrame: 12 months
measure: Change in lung tissue
timeFrame: 12 months
Other outcomes:
measure: Scoliosis
timeFrame: 12 months
Locations:
city: Los Angeles
country: United States
facility: University of California Los Angeles
state: California
city: Baltimore
country: United States
facility: Kennedy Krieger Institute / Hugo W. Moser Research Institute
state: Maryland
city: New York
country: United States
facility: Hospital for Special Surgery
state: New York
Study officials:
affiliation: Baylor College of Medicine
name: Vernon Sutton, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Hospital for Special Surgery, New York
name: Kathleen Raggio
role: STUDY_CHAIR
References: