Study of Osteogenesis Imperfecta Tendon

NCT ID: NCT06065111

Last Updated: 2023-10-03

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 130 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-09-13
• Study Completion Date: 2025-06-01

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.

Conditions

Osteogenesis Imperfecta

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

study tendon damage in osteogenesis imperfecta patients

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.

study tendon damage in osteogenesis imperfecta patients

Intervention Type: OTHER

• 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.

Interventions

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.

Intervention Type: OTHER

Eligibility Criteria

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.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Hopital Lariboisière

OTHER

Sponsor Role: collaborator

University Hospital, Lille

OTHER

Sponsor Role: collaborator

Cliniques universitaires Saint-Luc- Université Catholique de Louvain

OTHER

Sponsor Role: collaborator

Université Catholique de Louvain

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Pierre-Louis Docquier, MD

Role: PRINCIPAL_INVESTIGATOR

Cliniques Univresitaires Saint-Luc

Locations

Pole de Morphologie

Woluwe-Saint-Lambert, Brussels Capital, Belgium

Site Status: RECRUITING

Countries

Belgium

Central Contacts

Catherine Behets

Role: CONTACT

catherine.behets@uclouvain.be

+3227645245

Antoine Chretien

Role: CONTACT

antoine.chretien@uclouvain.be

Facility Contacts

Antoine Chretien, PT

Role: primary

antoine.chretien@uclouvain.be

+32 2 764 52 27

Other Identifiers

SOIT

Identifier Type: -

Identifier Source: org_study_id