Study of Osteogenesis Imperfecta Tendon (SOIT)

Université Catholique de Louvain

Status: Enrolling

Conditions: Osteogenesis Imperfecta

Treatments: Other: study tendon damage in osteogenesis imperfecta patients

Study type: Observational

Funder types: Other

Identifiers

NCT06065111

SOIT

Details and patient eligibility

About

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.

Full 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.

Enrollment: 130 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

130 participants in 1 patient group

study tendon damage in osteogenesis imperfecta patients

Description:

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.

Treatment:

Other: study tendon damage in osteogenesis imperfecta patients