The natural history of multiple osteochondromas in a large Italian cohort of pediatric patients

Mordenti, Marina; Shih, Fei F.; Boarini, Manila; Pedrini, Elena; Gnoli, Maria; Antonioli, Diego; Tremosini, Morena; Sangiorgi, Luca

doi:10.1016/j.bone.2020.115499

Cited by 12 publications

(10 citation statements)

References 42 publications

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“…We described the largest European cohort of MO patients, adding further evidence on how this disorder affects individuals throughout their lifetime. Consistently with the available literature, we confirmed a slightly higher prevalence of MO in males and a shorter stature of MO patients in comparison with the Italian population (Beltrami et al, 2016 ; Bovée, 2008 ; Mordenti et al, 2020 ; Pedrini et al, 2011 ; Schmale et al, 1994 ). Similarly, familial inheritance was present in more than half of patients.…”

Section: Discussionsupporting

confidence: 92%

The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice

Mordenti

Gnoli

Boarini

et al. 2021

American J of Med Genetics Pt A

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Multiple osteochondromas (MO) is a rare disorder, characterized by benign osteocartilaginous tumors (osteochondromas), arising from the perichondrium of bones. The osteochondromas increase during growth, frequently causing deformities and limitations. Our study aims to analyze the data captured by the Registry of Multiple Osteochondromas, to refine Istituto Ortopedico Rizzoli (IOR) Classification, providing a representative picture of the phenotypic manifestations throughout the lifespan. We conducted a single‐institution cross‐sectional study. Patients were categorized according to IOR Classification, which identifies three patients' classes on the presence/absence of deformities and/or limitations. The present dataset was compared with our previously published data, to refine the classification. Nine hundred sixty‐eight patients were included: 243 children (<10 years), 136 adolescents (10–15 years), and 589 adults. Of the entire population, half patients presented at least one deformity, and one quarter reported at least one limitation. Compared with our previous study, the amount of children was more than doubled and the percentage of mild/moderate cases was notably increased, giving a better disease overview throughout the lifespan and suggesting a different cut‐off for dividing Class II in subclasses. We confirmed that MO is characterized by phenotypic heterogeneity, suggesting that an early classification of the disease may offer a useful tool to follow disease pattern and evolution, to support clinical practice, and to propose timely interventions.

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Section: Discussionsupporting

confidence: 92%

The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice

Mordenti

Gnoli

Boarini

et al. 2021

American J of Med Genetics Pt A

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“…Registries, in our experience, can be used as a source of information during the drafting of the clinical protocol. This information can assist on several levels: in the definition of the study population, in the identification of the inclusion and exclusion criteria, in the baseline (and disease evolution) data collection, and in the individuation of eligible patients (Mordenti et al, 2020). Furthermore, the registries may support the estimation of the nuisance parameter rate, making the sample size more appropriate (Nikolakopoulos et al, 2014).…”

Section: Discussion and Lessons Learnedmentioning

confidence: 99%

“…This latter topic, which also includes fund-raising activities, is a vast and complex challenge for long-term maintenance of registries. The REM registry, capturing traceable and structured data, was noticed by the Clementia Pharmaceuticals company (acquired by IPSEN Pharma), which funded analyses and elaborations for investigating the natural history and disease evolution of the disease (Mordenti et al, 2020), with the intent to draft the protocol for repurposing of an orphan drug. Finally, the governance had taken care of training activities for registry staff (particularly for new personnel) and for data collectors.…”

Section: Governancementioning

confidence: 99%

Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations

et al. 2022

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Disease registries have been used as an interesting source of real-world data for supporting regulatory decision-making. In fact, drug studies based on registries cover pre-approval investigation, registry randomized clinical trials, and post-authorization studies. This opportunity has been investigated particularly for rare diseases—conditions affecting a small number of individuals worldwide—that represent a peculiar scenario. Several guidelines, concepts, suggestions, and laws are already available to support the design or improvement of a rare disease registry, opening the way for implementation of a registry capable of managing regulatory purposes. The present study aims to highlight the key stages performed for remodeling the existing Registry of Multiple Osteochondromas—REM into a tool consistent with EMA observations and recommendations, as well as to lead the readers through the entire adapting, remodeling, and optimizing process. The process included a variety of procedures that can be summarized into three closely related categories: semantic interoperability, data quality, and governance. At first, we strengthened interoperability within the REM registry by integrating ontologies and standards for proper data collection, in accordance with FAIR principles. Second, to increase data quality, we added additional parameters and domains and double-checked to limit human error to a bare minimum. Finally, we established two-level governance that has increased the visibility for the scientific community and for patients and carers. In conclusion, our remodeled REM registry fits with most of the scientific community’s needs and indications, as well as the best techniques for providing real-world evidence for regulatory aspects.

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“…Osteochondromas can occur in multiple or single cases.About 10% of osteochondromas are hereditary. Hereditary Multiple Osteochondromas (HMO) is inherited by autosomal dominance [10].The penetrance rate was about 96% in females and 100% in males.It is now widely suspected that HMO cases have somatic exotin-glycosyltransferase 1 (EXT1) or exotin-glycosyltransferase 2 (EXT2) pathogenic variants [11].A large number of studies have shown that the disease burden of patients with EXT1 pathogenic variant is higher than that of patients with EXT2 pathogenic variant, including more exogenous osteophytes, skeletal deformities and short stature.Individuals with EXT1 pathogenic variants may also have a higher risk of chondrosarcoma [12].However, this case was reported as a single osteochondroma.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic features of lumbar canal osteochondroma and review of literature

2022

FMSR

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Osteochondroma is a common benign primary bone tumor that can be multiple or solitary and is usually caused by a developmental defect in the growth plate. Osteochondroma usually arises from an osteochondroma near the ends of long bones and is less likely to occur in the spine. Data show that the incidence of single spinal osteochondroma is only 1.3%-4%, and the most common sites are cervical vertebra, thoracic vertebra, thoracolumbar and lumbar vertebra. Osteochondroma of the lumbar spine is rare because its ossification center generally ossified around 30 years of age, later than cervical and thoracic vertebrae. Only about 30% of patients with osteochondroma of the lumbar spine had intact cartilage caps. If the thickness of the cartilage cap is assessed, it is difficult to see on conventional radiographs. Conventional radiographic assessment is usually used to diagnose osteochondroma in the extremities, whereas radiographic diagnosis of osteochondroma in the spine is more difficult. This case was reported as a female patient with a single osteochondroma, which occurred in the lumbar spine and had a complete cartilage cap during the operation. This case is rare, which can provide some help for clinical practice to avoid misdiagnosis and missed treatment of this kind of disease.

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The natural history of multiple osteochondromas in a large Italian cohort of pediatric patients

Cited by 12 publications

References 42 publications

The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice

The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice

Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations

Diagnostic features of lumbar canal osteochondroma and review of literature

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