MARÍA DEL CARMEN LEGAZ GARCÍA¹, FERNANDO PÉREZ SANZ², Ana Sánchez Fuentes³, MARÍA ANTONIA PARREÑO GONZÁLEZ², ÁNGEL ESTEBAN GIL¹, VERÓNICA PALMA BARQUEROS⁴, NATALIYA BOHDAN ⁵, Vicente Vicente García⁶, José María Bastida⁷, Mª Luisa LOZANO ALMELA⁶, José Rivera Pozo⁶

(1) TECNOLOGÍAS DE MODELADO, PROCESAMIENTO Y GESTIÓN DEL CONOCIMIENTO, IMIB, España
(2) PLATAFORMA DE INFORMÁTICA BIOMÉDICA Y BIOINFORMÁTICA, IMIB, España
(3) Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, España (Región de Murcia)
(4) Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, U765-CIBERER, Murcia, Spain, 30003, España (Región de Murcia)
(5)
(6) HEMATOLOGÍA Y ONCOLOGÍA MÉDICA CLÍNICO-EXPERIMENTAL, IMIB, España
(7) Unidad de Trombosis y Hemostasia. Hospital Universitario de Salamanca-IBSAL, Salamanca, España (Castilla y León)

Registries for rare diseases (RD) are encouraged by health authorities as they would benefit patient care. In the case of inherited platelet disorders (IPD) there is scarcity of National and International registries. The aim of this study is to establish the first Spanish Registry of IPD (RETPLAC).

We designed a Case Report Form (CRF) in a web platform, by the use of Semantic Web technologies, including: i) patient code; ii) epidemiological data (birth date, sex, diagnosis); iii) clinical information (bleeding [BAT-ISTH scale], clinical manifestations (HPO codification), consanguinity); iv) laboratory phenotype (haemogram, blood smear, coagulation and platelet function data); v) candidate genetic variant(s) identified by Sanger or by high-throughput sequencing (HTS)(on line access to variant call format [vcf] file). The project was approved by our hospital Ethic Committee, and conducted within the scientific scope of the Spanish Society of Thrombosis and Haemostasis (SETH) and the Spanish Network for Research of RD (CIBERER).

RETPLAC was validated with information from 47 patients with Bernard Soulier syndrome (BSS) or Glanzmann thrombasthenia (GT). Principal component and multiple correspondence analyses of these data could demonstrate aggrupation of BSS and GT patients. New IPD patients are progressively being incorporated. RETPLAC is accessible at https://retplac.imib.es, located in servers of our Biomedical Research Institute of Murcia (IMIB-Arrixaca). Any physician managing these patients can be allowed to access the registry as an authorized user. RETPLAC allows the download of patient CRF, statistical analysis of data from different patient groups (by pathologies, diagnosis or phenotype [HPO]), or correlations between clinical, laboratory and molecular variables.

RETPLAC is a novel platform for centralized registry of epidemiological, clinical, phenotypic and molecular information of IPDs. This simple and versatile tool would help epidemiological and clinical-scientific investigations in IPD, and facilitate planning of clinical management in these patients. (ISCIII&Feder 17/01311&17/01966&CB15/0055; FS-19873/GERM/15; GRS-1647/A/17V; IBSAL-IBY17/00006)