Clinical trial NCT06065111: Study of Osteogenesis Imperfecta Tendon
Official title: Study of Osteogenesis Imperfecta Tendon and Ligament: Retrospective and Prospective Assessment.
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Osteogenesis Imperfecta
Keywords: Osteogenesis Imperfecta
Lead sponsor: Université Catholique de Louvain
Sponsor class: OTHER
Collaborators: name: Hopital Lariboisière
name: University Hospital, Lille
name: Cliniques universitaires Saint-Luc- Université Catholique de Louvain
First posted: 2023-10-03
Enrollment: 130
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: patients with osteogenesis imperfecta

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.

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.

Primary outcomes:
measure: Tendon stiffness
timeFrame: Throughout the entire study, approximately during 22 months
Secondary outcomes:
measure: Grip strength test
timeFrame: Throughout the entire study, approximately during 22 months
measure: Kinesiophobia
timeFrame: Throughout the entire study, approximately during 22 months
measure: Mobility : walking test
timeFrame: Throughout the entire study, approximately during 22 months
measure: Quality of life for children
timeFrame: Throughout the entire study, approximately during 22 months
measure: Quality of life for adults
timeFrame: Throughout the entire study, approximately during 22 months
measure: Pain localization and intensity for children
timeFrame: Throughout the entire study, approximately during 22 months
measure: Pain localization and intensity for adults
timeFrame: Throughout the entire study, approximately during 22 months
Other outcomes:
Locations:
city: Woluwe-Saint-Lambert
country: Belgium
facility: Pole de Morphologie
state: Brussels
Study officials:
affiliation: Cliniques Univresitaires Saint-Luc
name: Pierre-Louis Docquier, MD
role: PRINCIPAL_INVESTIGATOR
References: