Registry of Ehlers-Danlos Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data Are Linked to Patients' Biological Samples, When Available

The traditional method of collecting patient information is often chaotic, inconvenient and sometimes even unsafe, particularly when dealing with rare diseases. In 2014, the need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, led to the suggestion of implementing the Registry of Ehlers-Danlos Syndrome (RED).

The RED relies on an IT platform named Genotype-phenotype Data Integration platform - GeDI. This solution was developed through a collaboration between Rare Skeletal Disease Department and a local software company (Dilaxia) and is General Data Protection Regulation (GDPR)-compliant, multi-client and web-accessible. It has been designed according to current medical informatics standards, including the Orphanet code, the International Classification of Diseases (ICD), the Human Genome Variants Society, aiming to follow FAIR (Findability Accessibility Interoperability Reusability) principles. GeDI is continuously being implemented to improve the management of people with Ehlers-Danlos Syndrome and to assist researchers in analysing the information collected. RED is divided into the following 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 patient details;
• Diagnostic Process: the diagnosis, the status (affected, suspected, etc.), age at diagnosis, comorbidities, allergies, etc.;
• Genogram: a tool for designing the family transmission of the disease, alongside information on the disease status of all relatives included;
• Clinical events: it records a long list of signs and symptoms of Ehlers-Danlos Syndrome as well as several additional items to describe the disease
• Genetic Analysis and Alteration: including analytical technique, sample information, analysis duration, etc. This section also comprises detailed information on any detected pathological variants (e.g. gene, international reference, DNA change, protein change, genomic position, etc.);
• Visits: this section includes visit type (genetic, orthopedic, rehabilitation, pediatric, etc.), the date of the visit, prescriptions, imaging, etc.;
• Treatments: this section comprises information of a wide range of treatments including pharmacological, devices, supplements, and other treatments such as psychological, nutritional, etc.;
• Surgeries: this section contains information on the type of surgeries, the age of the patients, the site/localization of the procedures, etc.
• Documents: this repository allow us to store all types of documents (radiological reports, imaging, consents, clinical reports, etc.);
• Consents: this section provides a comprehensive overview of all consents collected, including the collection date;
• Samples: this section includes information on the samples, like the type, date of collection, etc.
• PROs: this section collects information on patients reported outcomes such as the quality of life or ABC scale.