Registry of Ehlers-Danlos Syndrome
- Conditions
- Ehlers-Danlos Syndrome
- Registration Number
- NCT04133272
- Lead Sponsor
- Luca Sangiorgi
- Brief Summary
RED 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 Ehlers-Danlos Syndrome (RED).
The RED 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 Ehlers-Danlos Syndrome and to help researchers in analysing collected information. RED 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 Ehlers-Danlos Syndrome (representing the main Ehlers-Danlos Syndrome features) 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 & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 3000
- All Ehlers-Danlos Syndrome patients, including prenatal and fetal diagnosis of Ehlers-Danlos Syndrome
- Any condition unrelated to Ehlers-Danlos Syndrome
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Natural History and Epidemiology in terms of clinical, genetic and functional evaluation 25 years To maintain an established registry in order to assess epidemiology and natural history (such as incidence, prevalence, etc.).
Collection of:
1. physical examinations data: assessment of type of the disease (according to Orphanet types)
2. orthopaedic and functional data: stature (cm), weight (kg), Beighton score, pain score (numeric scale), presence cardiac lesion (ultrasound)
3. surgical procedures: type, number and site of surgeries disease-related and age at surgeries
4. genetics background: target gene, type of mutation, type of variant detected, clinical significance
5. family history: inheritance in maternal or paternal line
Clinical, orthopaedic and functional features are updated at each follow up. Clinical reports, medical charts and imaging are the primary source of data.
- Secondary Outcome Measures
Name Time Method Genotype-Phenotype Correlation among clinical features and molecular background 25 years The secondary outcome comprises the correlation between 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
Trial Locations
- Locations (1)
Irccs Istituto Ortopedico Rizzoli
🇮🇹Bologna, Emilia Romagna, Italy