Prospective Observational Cohort Study of Cardiac Structure and Function in Children and Adults With Osteogenesis Imperfecta

NCT07287241 | Recruiting

• 1 other identifier: 665/2021/Oss/IOR
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Osteogenesis Imperfecta (OI); Osteogenesis Imperfecta

Keywords

Osteogenesis Imperfecta; Bone Diseases; Musculoskeletal Diseases; Genetic Diseases; Observational Study

Outcome Measures

Primary Outcomes (1)

• Cardiac abnormalities

  The incidence of structural and functional cardiac abnormalities in individuals with osteogenesis imperfecta.

  From enrollment to the end of study at 60 months

Study Arms (1)

Osteogenesis Imperfecta patients

Other: Imaging evaluation, Echocardiography

Interventions

Imaging evaluation, Echocardiography OTHER

Since this is an observational study, researchers collect general information from instrumental investigations and functional assessments carried out as part of normal clinical practice

Osteogenesis Imperfecta patients

Eligibility Criteria

• Age: 5 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients affected by Osteogenesis Imperfecta

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Istituto Ortopedico Rizzoli: lead

Study Sites (1)

IRCCS Istituto Ortopedico Rizzoli

Bologna, Emilia-Romagna, 40136, Italy

RECRUITING

MeSH Terms

Conditions

Osteogenesis Imperfecta; Bone Diseases; Musculoskeletal Diseases; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 25, 2025
• First Posted: December 17, 2025
• Study Start: June 10, 2025
• Primary Completion (Estimated): December 1, 2031
• Study Completion (Estimated): December 1, 2031
• Last Updated: December 17, 2025

Record last verified: 2025-12

Locations

IT (1)