Descriptive Analysis of Surgeries in Patients With Multiple Osteochondromas

NCT07556874 | Recruiting

• 1 other identifier: 271/2025/Oss/IOR
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Multiple Osteochondroma

Outcome Measures

Primary Outcomes (1)

• Number and type of surgeries for Multiple Osteochondromas

  3 years

Secondary Outcomes (2)

• Definition of a score based on osteochondromas location, severity, and deformity/limitations

  3 years

• Descriptive indexes of patients age and number of malignant transformations of osteochondromas

  3 years

Interventions

Surgery for osteochondromas PROCEDURE

Surgeries for osteochondromas performed at the Rizzoli Orthopedic Institute

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with multiple osteochondromas who underwent surgery at the Rizzoli Orthopedic Institute

You may qualify if:

• 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.

You may not qualify if:

• \- Patients with conditions that are part of the differential diagnosis for the condition under study, such as enchondromatosis and solitary exostosis.

Sponsors & Collaborators

• Istituto Ortopedico Rizzoli: lead

Study Sites (1)

IRCCS Istituto Ortopedico Rizzoli

Bologna, Bologna, 40136, Italy

RECRUITING

MeSH Terms

Conditions

Exostoses, Multiple Hereditary

Interventions

Surgical Procedures, Operative

Condition Hierarchy (Ancestors)

Osteochondromatosis; Osteochondroma; Neoplasms, Bone Tissue; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Exostoses; Hyperostosis; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Marina Mordenti, PhD

CONTACT

+39 051 6366062; marina.mordenti@ior.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr. Marina Mordenti

Study Record Dates

• First Submitted: April 22, 2026
• First Posted: April 29, 2026
• Study Start: October 23, 2025
• Primary Completion (Estimated): October 1, 2028
• Study Completion (Estimated): October 1, 2028
• Last Updated: April 29, 2026

Record last verified: 2026-04

Locations

IT (1)