Study of Osteogenesis Imperfecta Tendon (SOIT)

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

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.

Study Overview

• Status: Recruiting
• Conditions: Osteogenesis Imperfecta
• Intervention / Treatment: Other: study tendon damage in osteogenesis imperfecta patients

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 Type: Observational
• Enrollment (Estimated): 130

Contacts and Locations

• Study Contact: Name: Catherine Behets; Phone Number: +3227645245; Email: catherine.behets@uclouvain.be
• Study Contact Backup: Name: Antoine Chretien; Email: antoine.chretien@uclouvain.be

Study Locations

• Belgium
  • Brussels
    • Woluwe-Saint-Lambert, Brussels, Belgium, 1200
      • Recruiting
      • Pole de Morphologie
      • Contact: Antoine Chretien, PT; Phone Number: +32 2 764 52 27; Email: antoine.chretien@uclouvain.be

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

patients with osteogenesis imperfecta

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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.	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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Tendon stiffness	Triceps suralis tendon, from zero to infinity, expressed in Newton/mm², a high value indicates a high stiffness	Throughout the entire study, approximately during 22 months

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Université Catholique de Louvain
• Collaborators: Cliniques universitaires Saint-Luc- Université Catholique de Louvain; University Hospital, Lille; Hopital Lariboisière
• Investigators: Principal Investigator: Pierre-Louis Docquier, MD, Cliniques Univresitaires Saint-Luc

Publications and helpful links

Helpful Links

• experimental work

Study record dates

Study Major Dates

• Study Start (Actual): September 13, 2023
• Primary Completion (Estimated): December 31, 2024
• Study Completion (Estimated): June 1, 2025

Study Registration Dates

• First Submitted: September 11, 2023
• First Submitted That Met QC Criteria: September 26, 2023
• First Posted (Actual): October 3, 2023

Study Record Updates

• Last Update Posted (Actual): October 3, 2023
• Last Update Submitted That Met QC Criteria: September 26, 2023
• Last Verified: September 1, 2023

More Information

Terms related to this study

• Keywords: Osteogenesis Imperfecta
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Musculoskeletal Diseases; Connective Tissue Diseases; Bone Diseases; Bone Diseases, Developmental; Osteochondrodysplasias; Collagen Diseases; Osteogenesis Imperfecta
• Other Study ID Numbers: SOIT

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No