Study of Osteogenesis Imperfecta Tendon

Recruiting

• Conditions: Osteogenesis Imperfecta
• Interventions: Other: study tendon damage in osteogenesis imperfecta patients

• Registration Number: NCT06065111
• Lead Sponsor: Université Catholique de Louvain

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.

Study Timeline

• Status Verified: 2023-09
• Study First Submitted: 2023-09-11
• Study Start: 2023-09-13
• Study First Submitted QC: 2023-09-26
• Last Update Submitted: 2023-09-26
• Study First Posted: 2023-10-03
• Last Update Posted: 2023-10-03
• Primary Completion: 2024-12-31
• Study Completion: 2025-06-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 130

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
study tendon damage in osteogenesis imperfecta patients	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.

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

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

Trial Locations

Locations (1)

Pole de Morphologie; 🇧🇪 Woluwe-Saint-Lambert, Brussels, Belgium