Study of Osteogenesis Imperfecta Tendon

NCT06065111 | Unknown

• 1 other identifier: SOIT
• Study Type: observational
• Target: 130
• Locations: 1 country
• Sites: 1

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.

Conditions

Osteogenesis Imperfecta

Keywords

Osteogenesis Imperfecta

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (7)

• Grip strength test

  Throughout the entire study, approximately during 22 months

• Kinesiophobia

  Throughout the entire study, approximately during 22 months

• Mobility : walking test

  Throughout the entire study, approximately during 22 months

• Quality of life for children

  Throughout the entire study, approximately during 22 months

• Quality of life for adults

  Throughout the entire study, approximately during 22 months

Study Arms (1)

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

Interventions

study tendon damage in osteogenesis imperfecta patients 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.

study tendon damage in osteogenesis imperfecta patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients with osteogenesis imperfecta

You may qualify if:

• to have an osteogenesis imperfecta

You may not qualify if:

• none, since we want to study different types of osteogenesis imperfecta and consider the effect of age.

Sponsors & Collaborators

• Université Catholique de Louvain: lead
• Hopital Lariboisière: collaborator
• University Hospital, Lille: collaborator
• Cliniques universitaires Saint-Luc- Université Catholique de Louvain: collaborator

Study Sites (1)

Pole de Morphologie

Woluwe-Saint-Lambert, Brussels Capital, 1200, Belgium

RECRUITING

MeSH Terms

Conditions

Osteogenesis Imperfecta

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Officials

• Pierre-Louis Docquier, MD

  Cliniques Univresitaires Saint-Luc

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Catherine Behets

CONTACT

+3227645245; catherine.behets@uclouvain.be

Antoine Chretien

CONTACT

antoine.chretien@uclouvain.be

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 11, 2023
• First Posted: October 3, 2023
• Study Start: September 13, 2023
• Primary Completion: December 31, 2024
• Study Completion: June 1, 2025
• Last Updated: October 3, 2023

Record last verified: 2023-09

Data Sharing

• IPD Sharing: Will not share

Locations

BE (1)