Multiple OsteochondromaCHIROSNCT07556874
Descriptive Analysis of Surgeries in Patients With Multiple Osteochondromas
An observational study of Multiple Osteochondroma, run by Istituto Ortopedico Rizzoli at 1 site in Italy.
Trial summary
Multiple Osteochondromas (MO), also known as Multiple Cartilaginous Exostoses, is an autosomal dominant skeletal disorder with an incidence of approximately 1 in 50,000 in Western populations. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Multiple Osteochondroma
- What is being tested?
- Surgery for osteochondromas
- Type of treatment
- Surgery or procedure
- How many people
- 300 participants
- Where
- 1 siteItaly
- Study dates
- 23 Oct 2025to Oct 2028
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with multiple osteochondromas who underwent surgery at the Rizzoli Orthopedic Institute
Who may be able to join
- Patients diagnosed with multiple osteochondromas who underwent surgery at the IOR between January 1, 2012, and February 28, 2025.
- Patients of both sexes, regardless of age.
Who cannot join
- Patients with conditions that are part of the differential diagnosis for the condition under study, such as enchondromatosis and solitary exostosis.
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, Bologna, 40136
Marina Mordenti, PhD, +39 051 6366062, marina.mordenti@ior.it
About this study
Official title: Analisi Descrittiva di Chirurgie in Pazienti Con Osteocondromi Multipli
Multiple Osteochondromas (MO), also known as Multiple Cartilaginous Exostoses, is an autosomal dominant skeletal disorder with an incidence of approximately 1 in 50,000 in Western populations. Most cases are associated with pathogenic variants in the EXT1 and EXT2 genes, which lead to a systemic reduction of heparan sulfate, causing abnormalities in bone growth and other physiological processes.
Symptoms typically appear in childhood and include the development of bony protrusions often associated with pain due to compression of muscles and nerves. Patients are generally shorter than average and may experience dislocations, subluxations, reduced motor function, and skeletal deformities such as genu valgum, limb asymmetry, and scoliosis. The most severe complication is malignant transformation into chondrosarcoma, occurring in 0.5-5% of adult patients. Diagnosis is mainly based on imaging techniques (X-ray, CT, MRI, ultrasound) and is confirmed by the presence of at least two osteochondromas after excluding other conditions.
Following diagnosis, patients or their caregivers often raise questions regarding disease progression, the number and type of surgical interventions required, and differences between pediatric and adult surgical approaches. This retrospective observational cohort study aims to characterize the number and types of surgical procedures performed in MO patients at a European referral center, the Rizzoli Orthopaedic Institute.
Read the detailed description
Multiple Osteochondromas (MO, OMIM: 133700, 133701), also known as Multiple Cartilaginous Exostoses, represent an autosomal dominant skeletal dysplasia with an incidence in the Western population of approximately 1 in 50,000. The pathogenic variants identified in the majority of patients involve the EXT1 (OMIM: 608177) and EXT2 (OMIM: 608210) genes. Pathogenic mutations in these genes cause a systemic reduction of the polysaccharide heparan sulfate, leading to abnormalities in bone growth and in several physiological processes.
The first symptoms of the disease are observed in childhood, with the appearance of bony protrusions often associated with pain due to the pressure exerted by the osteochondroma on muscles and nerves. Furthermore, patients affected by MO, who are generally shorter than average, experience dislocations and subluxations, reduced motor abilities, as well as deformities such as genu valgum, limb length discrepancy, and scoliosis. The most severe complication is the malignant transformation of osteochondroma into chondrosarcoma, which occurs in 0.5-5% of adult patients. Clinical diagnosis is therefore primarily based on radiological imaging (X-rays, CT, MRI, ultrasound), with confirmation in the presence of at least two osteochondromas and after exclusion of other possible diagnoses.
At the time the diagnosis is communicated to the patient, numerous questions arise. The affected individual (or their guardian, in the case of minors) may ask about the clinical course of the disease or the number of surgical procedures they may need to undergo. Additional questions concern the type of surgical intervention and, given the progressive nature of the disease, surgery performed in children differs from that in adults. The present study (a retrospective observational cohort study) aims to characterize the number and type of surgical procedures performed in cases of MO at a European referral center such as the Rizzoli Orthopaedic Institute (IOR).
- Conditions
- Multiple Osteochondroma
- Being tested
- Surgery for osteochondromas
- 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.
Surgery for osteochondromasProcedure or surgery
Surgeries for osteochondromas performed at the Rizzoli Orthopedic Institute
What is being measured
The primary outcome is the main question the study is designed to answer.
Number and type of surgeries for Multiple Osteochondromas
Measured: 3 years
Secondary outcomes (2)
Conceptualization of a score based on osteochondromas location (bone site), severity (grading), and deformity/limitations (number and type)
The conceptualization of the score mentioned above will be explored as a secondary outcome.
Measured: 3 years
Descriptive analysis (mean, median, variance, standard deviation, interquartile range) of malignant transformations of osteochondromas
Descriptive metrics that will be used are mean, median, variance, standard deviation, interquartile range.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Apr 2026
- Study start23 Oct 2025
- Primary completionOct 2028 (estimated)
- Study completionOct 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Multiple OsteochondromaStudies of the same condition, open and under way.
- More trials run by Istituto Ortopedico RizzoliThe sponsor's other registered studies.
- 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
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Ortopedico Rizzoli
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Marina Mordenti, Istituto Ortopedico Rizzoli
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07556874
- Sponsor's protocol ID
- 271/2025/Oss/IOR
- Acronym
- CHIROS
- Status last verified
- May 2026
- First submitted
- 22 Apr 2026
- Last updated
- 15 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Analisi Descrittiva di Chirurgie in Pazienti Con Osteocondromi Multipli
- ClinicalTrials.gov ID
- NCT07556874
- Acronym / sponsor ID
- CHIROS / 271/2025/Oss/IOR
- Conditions
- Multiple Osteochondroma
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Istituto Ortopedico RizzoliUniversity, hospital or other
- Study start
- 23 Oct 2025 (actual)
- Primary completion
- Oct 2028 (estimated)
- Study completion
- Oct 2028 (estimated)
- First posted
- 29 Apr 2026 (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.
Multiple Osteochondromas (MO), also known as Multiple Cartilaginous Exostoses, is an autosomal dominant skeletal disorder with an incidence of approximately 1 in 50,000 in Western populations. Most cases are associated with pathogenic variants in the EXT1 and EXT2 genes, which lead to a systemic reduction of heparan sulfate, causing abnormalities in bone growth and other physiological processes.
Symptoms typically appear in childhood and include the development of bony protrusions often associated with pain due to compression of muscles and nerves. Patients are generally shorter than average and may experience dislocations, subluxations, reduced motor function, and skeletal deformities such as genu valgum, limb asymmetry, and scoliosis. The most severe complication is malignant transformation into chondrosarcoma, occurring in 0.5-5% of adult patients. Diagnosis is mainly based on imaging techniques (X-ray, CT, MRI, ultrasound) and is confirmed by the presence of at least two osteochondromas after excluding other conditions.
Following diagnosis, patients or their caregivers often raise questions regarding disease progression, the number and type of surgical interventions required, and differences between pediatric and adult surgical approaches. This retrospective observational cohort study aims to characterize the number and types of surgical procedures performed in MO patients at a European referral center, the Rizzoli Orthopaedic Institute.
Detailed description
Multiple Osteochondromas (MO, OMIM: 133700, 133701), also known as Multiple Cartilaginous Exostoses, represent an autosomal dominant skeletal dysplasia with an incidence in the Western population of approximately 1 in 50,000. The pathogenic variants identified in the majority of patients involve the EXT1 (OMIM: 608177) and EXT2 (OMIM: 608210) genes. Pathogenic mutations in these genes cause a systemic reduction of the polysaccharide heparan sulfate, leading to abnormalities in bone growth and in several physiological processes.
The first symptoms of the disease are observed in childhood, with the appearance of bony protrusions often associated with pain due to the pressure exerted by the osteochondroma on muscles and nerves. Furthermore, patients affected by MO, who are generally shorter than average, experience dislocations and subluxations, reduced motor abilities, as well as deformities such as genu valgum, limb length discrepancy, and scoliosis. The most severe complication is the malignant transformation of osteochondroma into chondrosarcoma, which occurs in 0.5-5% of adult patients. Clinical diagnosis is therefore primarily based on radiological imaging (X-rays, CT, MRI, ultrasound), with confirmation in the presence of at least two osteochondromas and after exclusion of other possible diagnoses.
At the time the diagnosis is communicated to the patient, numerous questions arise. The affected individual (or their guardian, in the case of minors) may ask about the clinical course of the disease or the number of surgical procedures they may need to undergo. Additional questions concern the type of surgical intervention and, given the progressive nature of the disease, surgery performed in children differs from that in adults. The present study (a retrospective observational cohort study) aims to characterize the number and type of surgical procedures performed in cases of MO at a European referral center such as the Rizzoli Orthopaedic Institute (IOR).
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with multiple osteochondromas who underwent surgery at the Rizzoli Orthopedic Institute
Key inclusion criteria (2 listed)
- Patients diagnosed with multiple osteochondromas who underwent surgery at the IOR between January 1, 2012, and February 28, 2025.
- Patients of both sexes, regardless of age.
Key exclusion criteria (1 listed)
- Patients with conditions that are part of the differential diagnosis for the condition under study, such as enchondromatosis and solitary exostosis.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Surgery for osteochondromasSurgeries for osteochondromas performed at the Rizzoli Orthopedic Institute | Procedure or surgery | – |
Primary outcome
Number and type of surgeries for Multiple Osteochondromas
Time frame: 3 years
2 secondary outcomes
Conceptualization of a score based on osteochondromas location (bone site), severity (grading), and deformity/limitations (number and type)
Time frame: 3 years
Descriptive analysis (mean, median, variance, standard deviation, interquartile range) of malignant transformations of osteochondromas
Time frame: 3 years
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 15 May 2026.
Related trials for Multiple Osteochondroma
RecruitingObservational study
Functional and Morphological Characterization of Multiple Osteochondromas Disorder
Hereditary Multiple Osteochondromas
RecruitingObservational study
Registry of Multiple Osteochondromas
Multiple Osteochondromas
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 Multiple Osteochondroma, 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 2 inclusion and 1 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 15 May 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 Marina Mordenti, PhD (+39 051 6366062, marina.mordenti@ior.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number and type of surgeries for Multiple Osteochondromas (time frame: 3 years). 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 15 May 2026.