Dutch Consortium Builds Registry Framework for Care of Rare Diseases

LEIDEN, The Netherlands - The Dutch Orphan Disease Registry Consortium is set up in order to build a disease registry framework to collect information on rare diseases, encourage drug development and optimize patient care. The consortium focuses on inborn errors of metabolism as target group of diseases.

The number of distinct rare (orphan) diseases is estimated to be between 5,000 and 8,000, with around 29 million rare disease sufferers in the European Union. Rare diseases are life threatening or chronically debilitating diseases with a prevalence of less than 5:10,000 inhabitants in the European Union. For most rare diseases, including many inborn errors of metabolism, therapy has not been developed due to lack of general awareness and gaps in knowledge.

Combining the expertise of several partners in a unique and sustainable disease-specific registry system will support the registry of rare diseases in general and inborn errors of metabolism in particular. This will lead to a better understanding of these rare diseases, support evaluation of new medicines by competent authorities and result in establishment of improved guidelines for diagnosis, treatment and monitoring.

Sonja van Weely, research coordinator of the project: “In depth knowledge of rare diseases is essential for the development of novel therapeutic drugs. This project creates a web-based registry framework in which essential information, such as the incidence of the disease and outcomes of treatment, is brought together. This registry will improve our knowledge of these diseases, enabling us to reduce the ‘time and cost-to-patient’ by facilitating the development of new orphan drugs and as such contributes to the wellbeing of society and patients with rare diseases in particular.”

This TI Pharma project has a budget of EUR 1.5 million and the results will be used for a sustainable plan of national and international implementation to other rare diseases.

Inborn errors of metabolism comprise a large class of genetic diseases involved in metabolism. Since 2007, the Dutch neonatal screening program has been expanded and now includes screening on 14 inborn errors of metabolism, such as galactosaemia and maple syrup urine disease. In the Netherlands, Rare Disease Day 2009 will be held on 8 April 2009.

For more information, visit: www.zeldzameziektendag.nl.

The Steering Committee on Orphan Drugs was appointed by the Dutch Ministry of Health in 2001. This independent committee has the mission to encourage the development of orphan drugs and to improve the situation of patients with a rare disease, especially to strengthen the transfer of information on rare diseases. The committee consists of eleven members and two observers. The members are representatives of umbrella organisations for patients and for pharmaceutical companies, physicians and a hospital pharmacist, scientists, a representative of the Dutch medicine evaluation board, of the Dutch health care insurance board and of the Dutch health insurance companies.

For further information, visit: www.weesgeneesmiddelen.nl.

Partners: - Academic Medical Center (AMC): www.amc.nl - Erasmus MC (University Medical Center Rotterdam): www.erasmusmc.nl - Genzyme: www.genzyme.com - Health Care Insurance Board (CVZ - College voor zorgverzekeringen): www.cvz.nl - TI Pharma: www.tipharma.com - University Medical Center Utrecht www.umcutrecht.nl/overumcutrecht/missie_en_strategie - Shire: www.shire.com - VSN (Vereniging Spierziekten Nederland): www.vsn.nl - GVN (Gaucher Vereniging Nederland): www.gaucher.nl - VKS (Volwassenen en kinderen met een stofwisselingsziekte): www.stofwisselingsziekten.nl

Source: TI Pharma

For more information, please contact Ingeborg van der Heijden, +31-71-3322036