Don't get left behind! The modernized ClinicalTrials.gov is coming. Check it out now.
Say goodbye to ClinicalTrials.gov!
The new site is coming soon - go to the modernized ClinicalTrials.gov
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05317637
Recruitment Status : Recruiting
First Posted : April 8, 2022
Last Update Posted : May 19, 2023
Sponsor:
Information provided by (Responsible Party):
Brendan Lee, Baylor College of Medicine

Study Description
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
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.


Condition or disease
Osteogenesis Imperfecta

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.
Study Design
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Layout table for study information
Study Type : Observational
Estimated Enrollment : 18 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708
Actual Study Start Date : August 1, 2022
Estimated Primary Completion Date : December 1, 2024
Estimated Study Completion Date : September 1, 2026

Resource links provided by the National Library of Medicine


Groups and Cohorts
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Group/Cohort
Adults with OI

18 participants will be enrolled through in this pilot study. 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.

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. All efforts will be made to complete all data collection and testing on the same day. However, procedures completed within ±12 months will be accepted. Evaluations will include family and medical history, self-report questionnaires, physical evaluation, diagnostic studies, and radiographic studies. Participants will be enrolled regardless of OI type since BWT, a finding we are attempting to validate, was observed in all types of OI. Smokers will not be excluded.


Outcome Measures
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :
  1. proportion of restrictive lung physiology [ Time Frame: 12 months ]
    FEV1/FVC greater than or equal to 80%, which is obtained from PFT


Secondary Outcome Measures :
  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 Outcome Measures:
  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


Eligibility Criteria
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Sampling Method:   Probability Sample
Study Population
Individuals with Osteogenesis Imperfecta
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
Contacts and Locations
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05317637


Contacts
Layout table for location contacts
Contact: Holly Loturco 212.774.2355 loturcoh@HSS.EDU

Locations
Layout table for location information
United States, California
University of California Los Angeles Recruiting
Los Angeles, California, United States, 90095
Contact: Sarah Gaunt       UCLAOIstudies@mednet.ucla.edu   
Principal Investigator: Deborah Krakow, MD         
United States, Maryland
Kennedy Krieger Institute / Hugo W. Moser Research Institute Recruiting
Baltimore, Maryland, United States, 21205
Contact: Andrea De La Torre, RN, BSN    667-205-4244    researchtrials@kennedykrieger.org   
Principal Investigator: Mahim Jain, MD         
United States, New York
Hospital for Special Surgery Recruiting
New York, New York, United States, 10021
Contact: Erin Carter    212-774-7332    CarterE@HSS.EDU   
Principal Investigator: Cathleen Raggio, MD         
Sponsors and Collaborators
Baylor College of Medicine
Investigators
Layout table for investigator information
Principal Investigator: Vernon Sutton, MD Baylor College of Medicine
Study Chair: Kathleen Raggio Hospital for Special Surgery, New York
More Information
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Layout table for additonal information
Responsible Party: Brendan Lee, Consortium PI, Baylor College of Medicine
ClinicalTrials.gov Identifier: NCT05317637    
Other Study ID Numbers: H49848
First Posted: April 8, 2022    Key Record Dates
Last Update Posted: May 19, 2023
Last Verified: March 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
Layout table for MeSH terms
Osteogenesis Imperfecta
Osteochondrodysplasias
Bone Diseases, Developmental
Bone Diseases
 Musculoskeletal Diseases
Genetic Diseases, Inborn
Collagen Diseases
Connective Tissue Diseases