Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

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 Overview

• Status: Recruiting
• Conditions: 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 Type: Observational
• Enrollment (Anticipated): 18

Contacts and Locations

• Study Contact: Name: Holly Loturco; Phone Number: 212.774.2355; Email: loturcoh@HSS.EDU

Study Locations

• United States
  • California
    • Los Angeles, California, United States, 90095
      • Recruiting
      • University of California Los Angeles
      • Contact: Sarah Gaunt; Email: UCLAOIstudies@mednet.ucla.edu
      • Principal Investigator: Deborah Krakow, MD
  • Maryland
    • Baltimore, Maryland, United States, 21205
      • Recruiting
      • Kennedy Krieger Institute / Hugo W. Moser Research Institute
      • Contact: Andrea De La Torre, RN, BSN; Phone Number: 667-205-4244; Email: researchtrials@kennedykrieger.org
      • Principal Investigator: Mahim Jain, MD
  • New York
    • New York, New York, United States, 10021
      • Recruiting
      • Hospital for Special Surgery
      • Contact: Erin Carter; Phone Number: 212-774-7332; Email: CarterE@HSS.EDU
      • Principal Investigator: Cathleen Raggio, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: N/A

• Sampling Method: Probability Sample

Study Population

Individuals with Osteogenesis Imperfecta

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
proportion of restrictive lung physiology	FEV1/FVC greater than or equal to 80%, which is obtained from PFT	12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Presence and severity of Bronchial Wall Thickening	measurement of percent of bronchial diameter subsumed by wall thickness	12 months
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
Presences of pulmonary fibrosis	Presence of pulmonary fibrosis based on readings by trained chest CT readers	12 months
Change in lung tissue	location of bronchiectasis, and presence of atelectasis based on readings by trained chest CT readers	12 months

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Baylor College of Medicine
• Investigators: Principal Investigator: Vernon Sutton, MD, Baylor College of Medicine; Study Chair: Kathleen Raggio, Hospital for Special Surgery, New York

Study record dates

Study Major Dates

• Study Start (Actual): August 1, 2022
• Primary Completion (Anticipated): December 1, 2024
• Study Completion (Anticipated): September 1, 2026

Study Registration Dates

• First Submitted: August 23, 2021
• First Submitted That Met QC Criteria: March 31, 2022
• First Posted (Actual): April 8, 2022

Study Record Updates

• Last Update Posted (Actual): May 19, 2023
• Last Update Submitted That Met QC Criteria: May 18, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Musculoskeletal Diseases; Connective Tissue Diseases; Bone Diseases; Bone Diseases, Developmental; Osteochondrodysplasias; Collagen Diseases; Osteogenesis Imperfecta
• Other Study ID Numbers: H49848

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No