Osteogenesis Imperfecta
Conditions
Keywords
Osteogenesis Imperfecta
Brief summary
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
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.
Interventions
OTHERstudy tendon damage in osteogenesis imperfecta patients
* 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.
Sponsors
Hopital Lariboisière
University Hospital, Lille
Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Université Catholique de Louvain
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Tendon stiffness | Throughout the entire study, approximately during 22 months | Triceps suralis tendon, from zero to infinity, expressed in Newton/mm², a high value indicates a high stiffness |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Mobility : walking test | Throughout the entire study, approximately during 22 months | Timed-up and go (if walking is possible for the patient) |
| Grip strength test | Throughout the entire study, approximately during 22 months | Dynamometer |
| Quality of life for children | Throughout the entire study, approximately during 22 months | Pediatric Quality of Life Inventory |
| Kinesiophobia | Throughout the entire study, approximately during 22 months | Tampa questionnaire |
| Pain localization and intensity for children | Throughout the entire study, approximately during 22 months | face scale |
| Pain localization and intensity for adults | Throughout the entire study, approximately during 22 months | visual analogue scale |
| Quality of life for adults | Throughout the entire study, approximately during 22 months | Medical Outcomes Study 36-item Short-Form Health Survey |
Countries
Belgium
Contacts
Primary ContactCatherine Behets
Backup ContactAntoine Chretien
Outcome results
None listed