Data Collection of Patients With Rare Bone Diseases

Study Overview
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Brief Summary
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RD-DATA is a retrospective and prospective data collection, 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
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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 2020 to implement RD-DATA. The RD-DATA relies on an IT Platform named Genotype-phenotype Data Integration platform (GeDI).This solution, realized by a collaboration among Rare Skeletal Disorders 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 (International Disease Classification), Human Genome Variants Society). GeDI is continuously implemented to improve management of persons with rare conditions with predominantly skeletal involvement and to help researchers in analysing collected information. RD-DATA 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 20+ signs and symptoms 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.)

Official Title
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Structured Collection of Data Relating to Rare Diseases With Predominantly Skeletal Involvement

Conditions
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Skeletal Dysplasia

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: All patients affected by rare diseases with predominantly skeletal involvement Exclusion Criteria: Any condition unrelated to rare diseases with predominantly skeletal involvement
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Rare diseases with predominantly skeletal involvement<br>The group comprises all patients affected rare diseases with predominantly skeletal involvement | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Natural History and Epidemiology in terms of clinical, genetic and functional evaluation | To maintain an established registry in order to assess epidemiology and natural history (such as incidence, prevalence, etc.). Collection of: Physical examinations data: BMI (kg/m^2) Number and localization of sites affected by enchondromas Presence/absence of angiomas Localization and number of deformities Localization and number of functional limitations Surgical procedures disease-related: Type of surgeries Number of surgeries Site of surgeries Age at surgeries Genetics background: studies of somatic variants Family history: anamnestic family information Number: count of enchondromas, deformities, etc. Localization: defined using bone affected, site (proximal, distal, etc.) and side (left, right, both) Clinical, orthopaedic and functional features are updated at each follow up. Clinical reports, medical charts and imaging are the primary source of data. | Since the disease is rare, the timeframe is strictly related to patients enrolment and consequently to amount of collected data. A 10 years period will probably answer general issues. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genotype-Phenotype Correlation among clinical features and eventual molecular background | Despite the unclear genetic background of Ollier disease and Maffucci syndrome, the secondary outcome aims to correlate genotype and phenotype. This includes, but is not limited to clinical features and genetic background. This will be pursued using the information collected during visits and follow-ups and the genetic information resulting from molecular investigations. | 25 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Rare Disease with predominantly skeletal involvement, Skeletal Disorders, Data Collection, Natural History Study