Osteogenesis Imperfecta (OI)OI CardioNCT07287241
Prospective Observational Cohort Study of Cardiac Structure and Function in Children and Adults With Osteogenesis Imperfecta
An observational study of Osteogenesis Imperfecta (OI) and Osteogenesis Imperfecta, run by Istituto Ortopedico Rizzoli at 1 site in Italy.
Trial 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… Read more about this study
- Who is it for?
- Ages 5 to 80 years
- Conditions the study is for
- Osteogenesis Imperfecta (OI), Osteogenesis Imperfecta
- What is being tested?
- Imaging evaluation, Echocardiography
- How many people
- 40 participants
- Where
- 1 siteItaly
- Study dates
- 10 Jun 2025to Dec 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients affected by Osteogenesis Imperfecta
Who may be able to join
- 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
Who cannot join
- Acute upper and/or lower respiratory tract infections at the time of assessment
- Cognitive impairment affecting cooperation and the performance of examinations
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Istituto Ortopedico Rizzoli
Bologna, Emilia-Romagna, 40136
Francesca Gurioli, MSc, +390516366044, studi.malattierare@ior.it
Luca Sangiorgi, PhD
About this study
Official title: 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.
Read the 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
- Being tested
- Imaging evaluation, Echocardiography
- Keywords
- Osteogenesis Imperfecta, Bone Diseases, Musculoskeletal Diseases, Genetic Diseases, Observational Study
- Medical subject headings
- Osteogenesis Imperfecta, Bone Diseases, Musculoskeletal Diseases, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Imaging evaluation, EchocardiographyOther
Since this is an observational study, researchers collect general information from instrumental investigations and functional assessments carried out as part of normal clinical practice
| Study group | Role | What they receive |
|---|---|---|
| Osteogenesis Imperfecta patients | Not described Receives: Other: Imaging evaluation, Echocardiography |
What is being measured
The primary outcome is the main question the study is designed to answer.
Cardiac abnormalities
The incidence of structural and functional cardiac abnormalities in individuals with osteogenesis imperfecta.
Measured: From enrollment to the end of study at 60 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Dec 2025
- Study start10 Jun 2025
- Primary completionDec 2031 (estimated)
- Study completionDec 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Osteogenesis Imperfecta (OI)Studies of the same condition, open and under way.
- More trials run by Istituto Ortopedico RizzoliThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Ortopedico Rizzoli
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07287241
- Sponsor's protocol ID
- 665/2021/Oss/IOR
- Acronym
- OI Cardio
- Status last verified
- Dec 2025
- First submitted
- 25 Nov 2025
- Last updated
- 17 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Cardiac Function and Morphology in Individuals With Osteogenesis Imperfecta: Prospective Observational Study
- ClinicalTrials.gov ID
- NCT07287241
- Acronym / sponsor ID
- OI Cardio / 665/2021/Oss/IOR
- Keywords
- Osteogenesis Imperfecta, Bone Diseases, Musculoskeletal Diseases, Genetic Diseases, Observational Study
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Istituto Ortopedico RizzoliUniversity, hospital or other
- Study start
- 10 Jun 2025 (actual)
- Primary completion
- Dec 2031 (estimated)
- Study completion
- Dec 2031 (estimated)
- First posted
- 17 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Osteogenesis Imperfecta patients | – | Other: Imaging evaluation, Echocardiography |
Who may qualify
- Ages
- 5 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients affected by Osteogenesis Imperfecta
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (2 listed)
- Acute upper and/or lower respiratory tract infections at the time of assessment
- Cognitive impairment affecting cooperation and the performance of examinations
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Imaging evaluation, EchocardiographySince this is an observational study, researchers collect general information from instrumental investigations and functional assessments carried out as part of normal clinical practice | Other | Osteogenesis Imperfecta patients |
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Dec 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Osteogenesis Imperfecta (OI) and Osteogenesis Imperfecta, run by Istituto Ortopedico Rizzoli at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 17 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cardiac abnormalities (time frame: From enrollment to the end of study at 60 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Dec 2025.