Data Collection of Patients With Rare Bone Diseases

Skeletal Dysplasia Clinical Trial

— RD-DATA  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05247645
• Other study ID #: 792/2020/Oss/IOR
• Status: Recruiting
• Start date: October 10, 2020
• Est. completion date: October 9, 2045

Study information

• Verified date: May 2024
• Source: Istituto Ortopedico Rizzoli
• Contact: Marina Mordenti, PhD
• Phone: 0516366062
• Email: marina.mordenti[@]ior.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

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 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.)

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: October 9, 2045
• Est. primary completion date: October 9, 2045
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• All patients affected by rare diseases with predominantly skeletal involvement

Exclusion Criteria:

• Any condition unrelated to rare diseases with predominantly skeletal involvement

Related Conditions & MeSH terms

• Skeletal Dysplasia

Locations

Country	Name	City	State
Italy	Irccs Istituto Ortopedico Rizzoli	Bologna	Emilia Romagna

Sponsors (1)

Lead Sponsor	Collaborator
Luca Sangiorgi

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Longitudinal study of disease evolution (including prospective and retrospective data)	This outcome aims to investigate the evolution of the diseases.; Main clinical features evaluated: Height (cm) age-related (compared to growth chart) Number and localization of enchondromas Number and localization of deformities Number and localization of functional limitations Number: count of deformities, limitations, etc. Localization: defined using bone affected, site (proximal, distal, etc.) and side (left, right, both); Those data will be collected both retrospectively and prospectively for all patients via physical examination, clinical reports and imaging.; An evaluation of these parameters will be performed at each visit to keep trace on the progression of the clinical manifestations. Data will be collected to define annualized rate of new clinical manifestations related to age, using analyses such as Kaplan-Meyer and surviving rate.	25 years
Primary	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	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