Clinical trial NCT04133285: Registry of Multiple Osteonchodromas
Official title: Registry of Multiple Osteochondromas That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Multiple Osteochondroma
Keywords: Disease Registry
Natural History Study
Genotype-Phenotype Correlation
Multiple Exostoses
Lead sponsor: Istituto Ortopedico Rizzoli
Sponsor class: OTHER
First posted: 2019-10-21
Enrollment: 10000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: OTHER
Sampling method: PROBABILITY_SAMPLE
Study population: Patients affected by Multiple Osteochondromas. The Registry will include also data on foetuses (prenatal).

Brief summary: REM is a retrospective and prospective registry, finalized to care and research. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc..

This approach has been individuated in order to corroborate and integrate data from different resources and aspects of the diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology.

Detailed description: The common way to collect patient information is frequently chaotic and inconvenient (sometimes even unsafe), particularly when dealing with rare diseases. The need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, suggested in 2013 to implement the Registry of Multiple Osteochondromas (REM).

The REM relies on an IT Platform named Genotype-phenotype Data Integration platform -GeDI.This solution, realized by a collaboration among Medical Genetic Department and a local software-house (NSI - Nier IT Solution), is a General Data Protection Regulation (GDPR)-compliant, multi-client, web-accessible system and it has been designed according to current medical informatics standards (Orphanet code, ICD-10, Human Genome Variants Society, Findability Accessibility Interoperability Reusability Principles). GeDI is continuously implemented to improve management of persons with Multiple Osteochodromas and to help researchers in analysing collected information. REM is articulated in main sections:

* Personal data: it comprises general information, birth details and residence data
* Patient data: including the patients internal code, the hospital code and other details on patients
* Diagnosis: the diagnosis, the status (affected, suspect, etc.), age at diagnosis, comorbidities, allergies, etc.
* Genogram: a tool to design family transmission of the disease, flanked by info on diseases status of all included relatives
* Clinical events: records more than 20 signs and symptoms of Multiple Osteochondromas and 12 additional items to describe the disease
* Genetic Analysis and Alteration: including technique, sample information, duration of analysis, etc. In addition, this section comprises detailed information on detected pathological variants (gene, international reference, DNA change, Protein change, genomic position, etc.)
* Visits: it includes the typology of the visit (genetic, orthopaedic, rehabilitation, paediatric, etc.), the date of the visit, treatment, prescription, imaging, etc.
* Surgeries: this section contains information on the surgeries type, the age of the patients, the site/localization of the procedures, etc.
* Documents: this repository is allowed to store all type of documents (radiological reports, imaging, consents, clinical reports, etc.)
* Consents: this section comprises a complete overview of all collected consents, including the date of collection.
* Samples: it comprises the type of samples (DNA, tissue, whole peripheral blood, etc.)

Eligibility criteria: Inclusion Criteria:

* All Multiple Osteochondromas patients, including prenatal diagnosis of Multiple Osteochondromas

Exclusion Criteria:

* Any condition unrelated to Multiple Osteochondromas

Primary outcomes:
measure: Natural History and Epidemiology in terms of clinical, genetic and functional evaluation
timeFrame: 25 years
Secondary outcomes:
measure: Genotype-Phenotype Correlation among clinical features and molecular background
timeFrame: 25 years
Other outcomes:
measure: Longitudinal study of disease evolution (including prospective and retrospective data)
timeFrame: 25 years
Locations:
city: Bologna
country: Italy
facility: Irccs Istituto Ortopedico Rizzoli
state: Emilia Romagna
Study officials:
affiliation: Istituto Ortopedico Rizzoli
name: Luca Sangiorgi, MD, PhD, MS
role: PRINCIPAL_INVESTIGATOR
References:
citation: Mordenti M, Ferrari E, Pedrini E, Fabbri N, Campanacci L, Muselli M, Sangiorgi L. Validation of a new multiple osteochondromas classification through Switching Neural Networks. Am J Med Genet A. 2013 Mar;161A(3):556-60. doi: 10.1002/ajmg.a.35819. Epub 2013 Feb 8.
citation: Pedrini E, Jennes I, Tremosini M, Milanesi A, Mordenti M, Parra A, Sgariglia F, Zuntini M, Campanacci L, Fabbri N, Pignotti E, Wuyts W, Sangiorgi L. Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. J Bone Joint Surg Am. 2011 Dec 21;93(24):2294-302. doi: 10.2106/JBJS.J.00949.
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