Functional and Morphological Characterization of Multiple Osteochondromas Disorder

NCT ID: NCT06703736

Last Updated: 2025-07-18

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 60 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-04-15
• Study Completion Date: 2026-06-30

Brief Summary

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.

Detailed Description

Hereditary Multiple Osteochondromas (HMO) disease, also known as 'Hereditary Multiple Exostosis', is a rare autosomal dominant musculoskeletal disorder whose prevalence is estimated at 1:50000. It is characterised by benign osteo-cartilaginous tumours called 'osteochondromas' or 'exostoses', cartilage capped bony outgrowths that originate from the perichondrium of long bones and from the surface of flat bones. The development and growth of exostoses occur in parallel with the growth of the subject and then stop at skeletal maturity. HMO is characterized by phenotypic heterogeneity and the most important complication is malignant transformation of osteochondroma towards secondary peripheral chondrosarcoma, which is estimated to occur in 0.5-5%. In most case, the disease is characterized by a broad-spectrum of mutations in the EXT1 and EXT2 genes coding for transmembrane glycoproteins with glycosyl-transferase activity.

Patients with HMO are subject to functional and postural alterations of the musculoskeletal system caused by bone deformities that begin to appear at an early age. The characterization and monitoring of residual mobility is essential to objectively quantify the motor and morphological deficit and to understand the mechanisms of action and evolution of this pathology. To date, there are no studies in the literature on the instrumental characterisation of OM. Furthermore, although skeletal structure deformities are one of the main causes of functional alterations, studies on the description and instrumental characterisation of macroscopic morphological alterations are limited. The expected results are morphological data (shape, position, size and numerosity) of osteochondromas and functional data (range of motion of the joints affected by the pathology). Other expected results are: accuracy and repeatability of the instruments to be used for monitoring pathology; an overall evaluation of the experience by means of an evaluation questionnaire; information on the feasibility of the pilot study for the implementation of a study on a larger cohort; identification of new prevention and treatment strategies in patients with rare diseases clinically similar to OM (e.g. metachondromatosis) or for other skeletal diseases that are not rare but widespread (e.g. osteoarthritis).

Conditions

Hereditary Multiple Osteochondromas

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Multiple osteochondromas patients

The cohort is composed of patients suffering from hereditary multiple osteochondromas (HMO) and it contains 30 subjects: 15 minors (6-17 years) and 15 adults (18-40 years). The inclusion criteria of HMO cohort are: clinical and/or molecular diagnosis of Multiple Osteochondromas; male and female subjects; collection of appropriate informed consent; ability to walk a linear path without aids; presence of OM localized at lower limbs; ability to undergo all procedures required by the protocol. Are excluded from the cohort subjects with body mass index (BMI) equal to or greater than 30.

No interventions assigned to this group

Healthy subjects

Healthy subjects are control population, equivalent in gender and age to the investigated population. The cohort is composed of 30 subjects: 15 minors (6-17 years) and 15 adults (18-40 years).The inclusion criteria of healthy cohort are: absence of neuro-muskuloskeletal or other limb-limiting conditions in the lower limbs; male and female subjects; collection of appropriate informed consent; ability to undergo all procedures required by the protocol. Are excluded from the cohort subjects with body mass index (BMI) equal to or greater than 30.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• 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.

• 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.

• 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.

• Minimum Eligible Age: 6 Years
• Maximum Eligible Age: 40 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Istituto Ortopedico Rizzoli

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

IRCCS Istituto Ortopedico Rizzoli

Bologna, , Italy

Site Status: RECRUITING

Countries

Italy

Central Contacts

Paolo Caravaggi, PhD, Engineer

Role: CONTACT

paolo.caravaggi@ior.it

00390516366500

marina mordenti, PhD

Role: CONTACT

marina.mordenti@ior.it

00390516366500

Other Identifiers

333/2024/Sper/IOR

Identifier Type: -

Identifier Source: org_study_id