NCT06065111

Study of Osteogenesis Imperfecta Tendon

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 130 (estimated)
• Sponsor: Université Catholique de Louvain · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Osteogenesis Imperfecta

Interventions

Type	Name	Description
OTHER	study 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.

Timeline

• Start date: 2023-09-13
• Primary completion: 2024-12-31
• Completion: 2025-06-01
• First posted: 2023-10-03
• Last updated: 2023-10-03

Locations

1 site across 1 country: Belgium