"European Network of Rare Bleeding Disorders (EN-RBD)"

University-of-Milan	European-Commission

 

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Using rare coagulation disorders as a model for improving understanding and treatment for rare diseases
 
Taking rare coagulation disorders (including haemophilia) as an example, a group of authors present ways to improve information-sharing by collaboration across agencies, networks, and countries, citing the positive ramifications collective knowledge sharing could have on diagnostics, research and treatment. The main tool to improve the knowledge base for the rare coagulation diseases is a clinical, genetic and treatment-related web-based data-collecting interface that is harmonised between different countries and systems to maximise its impact and includes a resource library for further sharing of knowledge and methodologies. The authors assert that their model could be applied to other groups of rare diseases as well as to common disorders.

Shapiro AD, Soucie JM, Peyvandi F, Aschman DJ, DiMichele DM;
UDC Rare Bleeding and Clotting Disorders Working Group; European Network Rare Bleeding Disorders Database.

Abstract

Rare coagulation disorders (RCDs) present a considerable and multifaceted public health risk. Although inherited RCDs affect a minor segment of any local healthcare delivery system, their global impact is major and highlight the challenges of delivering healthcare services to any rare disease population. These include but are not limited to:

(1) a general lack of knowledge about and familiarity with the genetic and clinical implications of the disorder among affected patients, and both urgent and specialty care providers;

(2) the potential for preventable morbidity and mortality related to delayed diagnosis and treatment;

(3) the lack of safe and effective therapies; and

(4) minimal research activity to establish and improve standards of care.

A multiagency national partnership has established an approach to address these problems through development of a clinical, genetic, and treatment-related web-based data-collection tool that will:

(1) generate a reliable, sufficient knowledge base for these disorders;

(2) facilitate new product licensure through subject identification and access to comparative historical treatment data; and

(3) serve as an effective tool for outcomes research and post-licensure product surveillance.

To maximize impact, this database is being harmonized with a European data-collection effort. Database development and harmonization is in progress. A resource library was completed and disseminated to major national and international bleeding disorder websites to provide state-of-the-art patient and provider education on each RCD. We believe that this model is effective and adaptable to other rare conditions.