Study of Osteogenesis Imperfecta Tendon

Study Overview
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Brief Summary
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Osteogenesis imperfecta (OI) is a rare genetic disease due to a mutation in one of the genes encoding either type I collagen or a protein involved in its synthesis. This leads to bone fragility with fractures and deformities. However, other tissues rich in type I collagen can also be affected, such as teeth or vessel walls. In the literature, several case reports describe tendon ruptures in OI patients, but no original study has really addressed this issue, which is likely to impact the quality of life through a reduction in mobility and pain. Recent work carried out by the investigators shows an alteration of the osteotendinous unit in the osteogenesis imperfecta mouse (oim), a validated model of the most severe form of OI. Consequently, the project aims to study the damage of tendon and ligament in patients suffering from osteogenesis imperfecta.

Detailed Description
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This project aims to study the damage of tendon and ligament in a cohort of patients suffering from osteogenesis imperfecta. The data collected will be put into perspective with those of our first experimental work on mice. They will also make it possible to complete the specific care of these patients. Indeed, during the anamnesis, particular attention will be paid to the description of tendon-ligament pain in order to propose the most effective treatment for this kind of disorder, mainly in physiotherapy. Prevention work will surely be necessary with patients and caregivers.

Official Title
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Study of Osteogenesis Imperfecta Tendon and Ligament: Retrospective and Prospective Assessment.

Conditions
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Osteogenesis Imperfecta

Intervention / Treatment
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* Other: study tendon damage in osteogenesis imperfecta patients


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: to have an osteogenesis imperfecta Exclusion Criteria: none, since we want to study different types of osteogenesis imperfecta and consider the effect of age.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| study tendon damage in osteogenesis imperfecta patients<br>The study will be conducted in three centers: Brussels (30 patients, clinique Saint-Luc, Lille (30 patients) and Paris (50 patients). Patients will be recruited regardless of their form of osteogenesis imperfecta. | Other: study tendon damage in osteogenesis imperfecta patients<br>* To identify and characterize alterations of tendons and ligaments in patients with osteogenesis imperfecta (OI) and to improve clinical management of the disease. To analyze interactions of different parameters, such as laxity or administration of bisphosphonates, on the evolution of the disease.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Tendon stiffness | Triceps suralis tendon, from zero to infinity, expressed in Newton/mm², a high value indicates a high stiffness | Throughout the entire study, approximately during 22 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Grip strength test | Dynamometer | Throughout the entire study, approximately during 22 months | 
| Kinesiophobia | Tampa questionnaire | Throughout the entire study, approximately during 22 months | 
| Mobility : walking test | Timed-up and go (if walking is possible for the patient) | Throughout the entire study, approximately during 22 months | 
| Quality of life for children | Pediatric Quality of Life Inventory | Throughout the entire study, approximately during 22 months | 
| Quality of life for adults | Medical Outcomes Study 36-item Short-Form Health Survey | Throughout the entire study, approximately during 22 months | 
| Pain localization and intensity for children | face scale | Throughout the entire study, approximately during 22 months | 
| Pain localization and intensity for adults | visual analogue scale | Throughout the entire study, approximately during 22 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Osteogenesis Imperfecta