Prospective Observational Cohort Study of Cardiac Structure and Function in Children and Adults With Osteogenesis Imperfecta (OI Cardio)

December 16, 2025 updated by: Istituto Ortopedico Rizzoli

Evaluation of Cardiac Function and Morphology in Individuals With Osteogenesis Imperfecta: Prospective Observational Study

This prospective observational investigation will examine the incidence and progression of cardiologic findings in individuals with OI across different age groups. Cardiopulmonary complications are recognized as major contributors to morbidity and mortality in adults with OI, although life expectancy has significantly improved in recent years due to medical advancements.

By systematically evaluating cardiovascular involvement in this population, the study aims to generate clinically relevant evidence to inform early cardiologic screening strategies and support the development of harmonized and targeted management approaches, ultimately improving clinical practice and the quality of life of individuals living with OI.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Research on extra-skeletal manifestations, particularly those affecting the cardiovascular system, is still rather limited, despite this being one of the main causes of morbidity and mortality among these patients. Cardiovascular abnormalities can also be found in childhood, even in cases of mild Osteogenesis Imperfecta.

This observational prospective cohort study is to evaluate the presence and progression of structural and functional cardiac abnormalities in children and adults with Osteogenesis Imperfecta (OI).

Participants will undergo routine clinical and instrumental evaluations performed during standard follow-up visits at the study center, including:

  • Clinical and genetic assessment
  • Echocardio, electrocardiogram, and cardiology visit
  • Radiographic evaluation
  • Quality-of-life questionnaire (EQ-5D)

These assessments will be performed at baseline and periodically over a 60-month follow-up period to characterize cardiovascular involvement in OI and support early cardiologic screening strategies.

The Department of Rare Skeletal Disorders at Istituto Ortopedico Rizzoli, Bologna, Italy, has been a reference centre, and coordinating centre, of ERN BOND, the European Reference Network for rare BONe Diseases (https://ernbond.eu/), since its creation in 2017

Study Type

Observational

Enrollment (Estimated)

40

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Italy
    • Emilia-Romagna
      • Bologna, Emilia-Romagna, Italy, 40136
        • Recruiting
        • IRCCS Istituto Ortopedico Rizzoli
        • Principal Investigator:
          • Luca Sangiorgi, PhD
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients affected by Osteogenesis Imperfecta

Description

Inclusion Criteria:

  • Diagnosis of OI according to the modified Sillence classification (Mortier et al., 2019)
  • All subjects with OI who attend genetic consultations at the clinic affiliated with the Rare Skeletal Diseases Unit of the IRCCS Rizzoli Orthopaedic Institute (IOR)
  • Willingness to undergo clinical and instrumental assessments at the IOR

Exclusion Criteria:

  • Acute upper and/or lower respiratory tract infections at the time of assessment
  • Cognitive impairment affecting cooperation and the performance of examinations

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Osteogenesis Imperfecta patients
Other: Imaging evaluation, Echocardiography
Since this is an observational study, researchers collect general information from instrumental investigations and functional assessments carried out as part of normal clinical practice

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Cardiac abnormalities
Time Frame: From enrollment to the end of study at 60 months
The incidence of structural and functional cardiac abnormalities in individuals with osteogenesis imperfecta.
From enrollment to the end of study at 60 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Istituto Ortopedico Rizzoli

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 10, 2025

Primary Completion (Estimated)

December 1, 2031

Study Completion (Estimated)

December 1, 2031

Study Registration Dates

First Submitted

November 25, 2025

First Submitted That Met QC Criteria

December 16, 2025

First Posted (Actual)

December 17, 2025

Study Record Updates

Last Update Posted (Actual)

December 17, 2025

Last Update Submitted That Met QC Criteria

December 16, 2025

Last Verified

December 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 665/2021/Oss/IOR

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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