Data Collection on Rare Coagulation Disorders: Focus on Patients with Coagulation Factor X Deficiency
Marzia Menegatti, Samin Mohsenian, Paolo Lanzi, Ilaria Cutica, Simona Maria Siboni, Flora PeyvandiABSTRACT
Background
Inherited coagulation factor X (FX) deficiency is an ultra‐rare coagulation disorder (estimated prevalence ∼1:1,000,000), characterized by reduced FX activity (FX:C) and bleeding manifestations, ranging from mild to life‐threatening hemorrhage. Due to its rarity, management is currently guided by case reports and expert opinion rather than evidence‐based guidelines.
Objectives
The Prospective Rare Bleeding Disorders Database on Coagulation Factor X Deficiency (PRO‐RBDD‐FX) aims to quantify bleeding rates, identify FX:C thresholds protective against major spontaneous bleeding and evaluate treatment efficacy and safety. A secondary objective is to assess the health‐related quality of life (HrQoL).
Methods
PRO‐RBDD‐FX is an observational study utilizing a web‐based platform for the collection of retrospective and prospective longitudinal data. The registry enrolls affected probands and their first‐degree relatives. Standardized demographic, clinical, laboratory, genetic, and treatment‐related data are collected through dedicated modules covering bleeding manifestations, surgery, prophylaxis, thrombosis, laboratory phenotype assessment, genetics, and HrQoL. Bleeding severity is quantified using the ISTH‐BAT and the EN‐RBD‐BSS, while HrQoL is assessed through EuroQoL questionnaires.
Results
The PRO‐RBDD‐FX project resulted in the development of a web‐based registry dedicated to FX deficiency. The platform integrates clinical, laboratory, genetic, therapeutic, and patient‐reported outcome data within a unified longitudinal follow‐up.
Conclusions
The disease‐specific modules developed herein support future natural history and genotype–phenotype studies. The PRO‐RBDD‐FX registry represents a tool for advancing research in ultra‐rare diseases, bridging the gap between laboratory findings and clinical reality promoting standardized personalized care.