Heart structure and function in children and adults with Osteogenesis Imperfecta

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a prospective observational cohort that will enroll children and adults with a confirmed diagnosis of Osteogenesis Imperfecta and perform baseline and periodic follow-up visits over 60 months. Participants will receive clinical and genetic assessments, echocardiography, electrocardiograms, radiographic evaluations, and quality-of-life questionnaires (EQ-5D) as part of routine follow-up at the coordinating center. The study aims to characterize the incidence and progression of structural and functional cardiac abnormalities across age groups. Results are intended to inform early cardiologic screening strategies and harmonized management approaches for people living with OI.

Why it matters

Who can join: the full rules

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

Where it's running

• IRCCS Istituto Ortopedico Rizzoli
  Bologna, Emilia-Romagna, Italy Recruiting

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Dose-finding study of AGA2115 in Chinese adults and adolescents with osteogenesis imperfecta

  This study tests three different dosing regimens of AGA2115 in Chinese adults and adolescents with Osteogenesis Imperfecta to see how safe it is and how well it works.

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• Pediatric safety follow-up after romosozumab treatment for osteogenesis imperfecta

  This follow-up tests the safety of romosozumab in children and adolescents with osteogenesis imperfecta who previously received romosozumab in an earlier trial.

  Recruiting at 4 sites Phase 3 Amgen · Indianapolis, Indiana and 3 other locations · NCT07366086

• AGA2115 treatment for adults with osteogenesis imperfecta caused by COL1A1 or COL1A2 variants

  This will test whether the drug AGA2115 helps adults (18–75) with Type I, III, or IV osteogenesis imperfecta due to COL1A1 or COL1A2 genetic variants.

  Recruiting at 14 sites Phase 2 Angitia Biopharmaceuticals · Phoenix, Arizona and 25 other locations · NCT07062588

• Adapted physical activity program for children and teenagers with Osteogenesis Imperfecta

  This study tests if a special 6-month exercise program can help children and teenagers with Osteogenesis Imperfecta improve their energy levels and overall fitness.

  Recruiting University Hospital, Toulouse · Montpellier and 1 other locations · NCT05927389

• Evaluating hearing and balance in children and young adults with Osteogenesis Imperfecta

  This study is testing how Osteogenesis Imperfecta affects hearing and balance in kids and young adults aged 12 to 20 to better understand the condition's impact.

  Recruiting Assistance Publique - Hôpitaux de Paris · Paris · NCT05419960

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.