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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05317637
Other study ID # H49848
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date August 1, 2022
Est. completion date September 1, 2026

Study information

Verified date November 2023
Source Baylor College of Medicine
Contact Dianne Nguyen
Phone 713.798.6694
Email diannen@bcm.edu
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 18
Est. completion date September 1, 2026
Est. primary completion date December 1, 2024
Accepts healthy volunteers
Gender All
Age group 18 Years and older
Eligibility 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

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
United States Kennedy Krieger Institute / Hugo W. Moser Research Institute Baltimore Maryland
United States University of California Los Angeles Los Angeles California
United States Hospital for Special Surgery New York New York

Sponsors (1)

Lead Sponsor Collaborator
Baylor College of Medicine

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Other Scoliosis Measurement of spinal scoliosis, kyphosis, lordosis and vertebral fractures including curve measurement based on standing plane films of thorax/abdomen exposed for bone imaging 12 months
Primary proportion of restrictive lung physiology FEV1/FVC greater than or equal to 80%, which is obtained from PFT 12 months
Secondary Presence and severity of Bronchial Wall Thickening measurement of percent of bronchial diameter subsumed by wall thickness 12 months
Secondary Vital lung capacity Vital capacity/total lung capacity/chest volume prediction based on 1) readings by trained chest CT readers and 2) 3-D lung imaging calculation 12 months
Secondary Presences of pulmonary fibrosis Presence of pulmonary fibrosis based on readings by trained chest CT readers 12 months
Secondary Change in lung tissue location of bronchiectasis, and presence of atelectasis based on readings by trained chest CT readers 12 months
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