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.
