Hereditary Multiple OsteochondromasMAMBONCT06703736
Functional and Morphological Characterization of Multiple Osteochondromas Disorder
An observational study of Hereditary Multiple Osteochondromas, run by Istituto Ortopedico Rizzoli at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 to 40 yearsHealthy volunteers can take part
- Conditions the study is for
- Hereditary Multiple Osteochondromas
- How many people
- 60 participants
- Where
- 1 siteItaly
- Study dates
- 21 May 2025to 30 Dec 2026
- How long will I take part?
- 1 Year
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 40 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: The multiple osteochondromas population is selected from patients taken over by CeMaRS (Centre of Rare Skeletal Disorders) of Istituto Ortopedico Rizzoli (IOR), while the healthy population is recruit via social and IOR website, possibly including healthy relatives of recruited patients if the absence of the causative genetic variant of the disease and the absence of its clinical manifestations are proven.
Who may be able to join
- 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;
Show all 14Show fewer
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Istituto Ortopedico Rizzoli
Bologna, 40136
About this study
Official title: Misure di funzionalità e deformità Dell'Apparato Muscolo-scheletrico Come "Biomarkers" Per il Trattamento di Malattie Ortopediche/Accessible Measurements of Mobility and Deformity as Biomarkers for Orthopaedic Treatments
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.
Read the 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
- Keywords
- Multiple osteochondromas, Functional limitation, Skeletal deformity, Gait analysis, IMU, Anthropometry, 3D scanning, Rare skeletal disease, Cartilage, Growth plates
- Medical subject headings
- Exostoses, Multiple Hereditary
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. | |
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Functional motor assessment
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:
- joint kinematics obtained through inertial sensors (IMU) that are attached to the body segments by means of bands or double-sided tape;
- 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;
- plantar pressure maps by means of a baropodometric platform positioned on the laboratory floor that will measure plantar pressure data in static and dynamic.
Measured: 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.
Anthropometric parameters assessment
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.
Measured: 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.
Secondary outcomes (3)
Evaluation of experimental protocols using simplified instrumentation
The analysis of kinematic parameters will be carried out with a gold standard stereophotogrammetric instrument and by means of wearable IMU sensor. The analysis of anthropometric parameters will be carried out by means of a high resolution manual 3D scanning system (slower but more accurate), and by means of a low resolution 3D scanning system without operator intervention (faster but less accurate). The comparison between the two instruments will allow optimisation of the acquisition parameters and establish the reliability and accuracy of ad-hoc assessment protocols for monitoring patients.
Measured: through study completion
Evaluation questionnaire
The questionnaire aims to collect opinions on the experience lived during the execution of the motor tasks and other planned activities so as to be able to assess the opinion of the multiple osteochondromas participants in terms of feasibility and also to identify areas for improvement to carry out a study with a wider range of case studies.
Measured: The questionnaire is administered to the cohort of patients at the first acquisition and at 12-month follow-up.
Assessment of quality of life and balance perception of hereditary multiple osteochondromas patients
This secondary outcome assessment involves only the cohort of hereditary multiple osteochondromas subjects and not the healthy ones. Questionnaires concerning quality of life (EuroQol-5) and perceived sense of balance (ABC scale) will be administered to each subject.
Measured: through study completion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Nov 2024
- Study start21 May 2025
- Primary completion1 Sep 2026 (estimated)
- Study completion30 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Multiple OsteochondromasStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
- Target duration
- 1 Year
Sponsor and investigators
- Lead sponsor
- Istituto Ortopedico Rizzoli
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06703736
- Sponsor's protocol ID
- 333/2024/Sper/IOR
- Acronym
- MAMBO
- Status last verified
- Mar 2026
- First submitted
- 22 Oct 2024
- Last updated
- 24 Mar 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 24 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Misure di funzionalità e deformità Dell'Apparato Muscolo-scheletrico Come "Biomarkers" Per il Trattamento di Malattie Ortopediche/Accessible Measurements of Mobility and Deformity as Biomarkers for Orthopaedic Treatments
- ClinicalTrials.gov ID
- NCT06703736
- Acronym / sponsor ID
- MAMBO / 333/2024/Sper/IOR
- Conditions
- Hereditary Multiple Osteochondromas
- Keywords
- Multiple osteochondromas, Functional limitation, Skeletal deformity, Gait analysis, IMU, Anthropometry, 3D scanning, Rare skeletal disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Istituto Ortopedico RizzoliUniversity, hospital or other
- Study start
- 21 May 2025 (actual)
- Primary completion
- 1 Sep 2026 (estimated)
- Study completion
- 30 Dec 2026 (estimated)
- First posted
- 25 Nov 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Target follow-up
- 1 Year
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
| 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. |
Who may qualify
- Ages
- 6 to 40 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- The multiple osteochondromas population is selected from patients taken over by CeMaRS (Centre of Rare Skeletal Disorders) of Istituto Ortopedico Rizzoli (IOR), while the healthy population is recruit via social and IOR website, possibly including healthy relatives of recruited patients if the absence of the causative genetic variant of the disease and the absence of its clinical manifestations are proven.
Key inclusion criteria (14 listed)
- 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;
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Functional motor assessment
Time frame: 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
Time frame: 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.
3 secondary outcomes
Evaluation of experimental protocols using simplified instrumentation
Time frame: through study completion
Evaluation questionnaire
Time frame: The questionnaire is administered to the cohort of patients at the first acquisition and at 12-month follow-up.
Assessment of quality of life and balance perception of hereditary multiple osteochondromas patients
Time frame: through study completion
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Mar 2026.
- Individual participant dataSharing planned: Undecided
Related trials for Hereditary Multiple Osteochondromas
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Registry of Multiple Osteochondromas
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Multiple Osteochondromas, run by Istituto Ortopedico Rizzoli at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 14 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 24 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Paolo Caravaggi, PhD, Engineer (00390516366500, paolo.caravaggi@ior.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Functional motor assessment (time frame: 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.). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Mar 2026.