Registry of Ollier Disease and Maffucci Syndrome

Registry of Ollier Disease and Maffucci Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample

Sponsors

Lead Sponsor: Luca Sangiorgi

Source Istituto Ortopedico Rizzoli
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 Ollier Disease and Maffucci Syndrome (ROM). The ROM 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 Ollier Disease and Maffucci Syndrome and to help researchers in analysing collected information. ROM 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 23 signs and symptoms of Ollier Disease and Maffucci Syndrome 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.)

Overall Status Enrolling by invitation
Start Date January 16, 2017
Completion Date January 2032
Primary Completion Date July 2023
Study Type Observational [Patient Registry]
Primary Outcome
Measure Time Frame
Natural History and Epidemiology in terms of clinical, genetic and functional evaluation 25 years
Secondary Outcome
Measure Time Frame
Genotype-Phenotype Correlation among clinical features and eventual molecular background 25 years
Enrollment 400
Condition
Eligibility

Sampling Method: Probability Sample

Criteria:

Inclusion Criteria: - All patients affected by Ollier Disease and Maffucci Syndrome Exclusion Criteria: - Any condition unrelated to Ollier Disease and/or Maffucci Syndrome

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Luca Sangiorgi, MD, PhD, MS Principal Investigator Istituto Ortopedico Rizzoli
Location
Facility: Irccs Istituto Ortopedico Rizzoli
Location Countries

Italy

Verification Date

February 2021

Responsible Party

Type: Sponsor-Investigator

Investigator Affiliation: Istituto Ortopedico Rizzoli

Investigator Full Name: Luca Sangiorgi

Investigator Title: Haed of Medical Genetic Department and Clinical Bioinformatic Laboratory

Keywords
Has Expanded Access No
Condition Browse
Arm Group

Label: Ollier Disease and Maffucci Syndrome patients

Description: The group comprises all patients affected by Ollier Disease and Maffucci Syndrome.

Acronym ROM
Study Design Info

Observational Model: Cohort

Time Perspective: Other

Source: ClinicalTrials.gov