The main purpose of the study is the characterization of functional and morphological alterations due to multiple osteochondromas in a pediatric and adult population through the identification of relevant anthropometric and functional parameters. The morphological and functional data, supplemented with clinical and postural data, will allow the characterization of the disease with an holistic approach that can provide important information to properly assess timing for surgical treatments and to improve the quality of life of these patients. Another goal of the study is the assessment and the validation of novel instruments and tools to measure joint mobility and bone deformity. These instruments should be easy-to-use and designed to be operated locally by the patients themselves and/or in small clinics by operators with little training and no specific high-technical knowledge. The final goal of the study is the assessment of the quality of life and balance perception of patients, using questionnaires.
Eligibility
Sex
ALL
Min age
6 Years
Max age
40 Years
Healthy volunteers
Accepted
Inclusion Criteria:
For multiple osteochondromas cohort inclusion criteria are:
* clinical and/or molecular diagnosis of Multiple Osteochondromas;
* male and female subjects;
* age minors: 6-17 years at enrollment and adult age: 18-40 years at enrollment;
* collection of appropriate informed consent;
* ability to walk a linear path without aids;
* presence of multiple osteochondromas localized at lower limbs;
* ability to undergo all procedures required by the protocol.
For healthy cohort inclusion criteria are:
* absence of neuro-muskuloskeletal or other limb-limiting conditions in the lower limbs;
* male and female subjects;
* age minors: 6-17 years at enrollment and adult age: 18-40 years at enrollment;
* collection of appropriate informed consent;
* ability to undergo all procedures required by the protocol.
Exclusion Criteria:
* Persons who do not fit the inclusion criteria;
* Any reason which, in the opinion of the investigator, would result in the inability of the participant to comply with the protocol.
* BMI equal to or greater than 30.
Primary outcome measure(s)
Functional motor assessment — From subjects enrollment to the end of the assessment. Patients repeat these activities after 12 months from the first evaluation, while healthy subjects carry out the same activities of unhealthy population only once. Analysis of the following motor tasks is executed: planar linear walking, overcoming a step/obstacle, standing up/ sitting down from a chair. Analysis of these movements includes:
1. joint kinematics obtained through inertial sensors (IMU) that are attached to the body segments by means of bands or double-sided tape;
2. joint kinetics (joint torque and powers) obtained from ground reaction force data, measured with the force platforms on the laboratory floor and from joint kinematics;
3. plantar pressure maps by means of a baropodometric platform positioned on the laboratory floor that will measure plantar pressure data in static and dynamic.
Anthropometric parameters assessment — From subjects enrollment to the end of the assessment. Patients repeat these activities after 12 months from the first evaluation, while healthy subjects carry out the same activities of unhealthy population only once. Body measurement using 3D scanning is carried out. The subject should wear underwear or short and tight clothing. The subject should remain as still as possible in a standing position while being scanned.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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