Proposal for an EU Directive on Organ Donation and Transplantation: Renewed hope for rare disease patients

Organ donation and transplantation (ODT) is back on the European political agenda and this could give renewed hope for many rare disease patients whose lives depend on increased availability and accessibility of donated organs.

An open ODTconsultation will be launched in view of the elaboration of a Directive, establishing legally-binding provisions to ensure quality and safety of organ donation and transplantation. Furthermore, the Commission will also adopt an Action Plan. These two, combined and mutually reinforcing, documents will increase availability and significantly improve the chances of getting an organ safely transplanted. This is the opportunity to make the rare disease community voice heard about the importance of ODT for several rare conditions and the special needs of rare disease patients in this area.

'Many people don't know why ODT is so important for many rare disease patients,' argues Flaminia Macchia, Director for European Public Affairs at Eurordis. 'Organ transplantation is sometimes the only therapeutic option for a number of rare diseases patients, and there is a higher proportion of organ transplantations in rare diseases patients than in the global population.'

eye | oeil | ojo | occhio | olho | AugeThis is the case for rare diseases were there are few or no medicinal products available such as lymphangioleiomyomatosis (lung), cystinosis (kidney), hemochromatosis (liver), Crohn's disease (small bowel), keratoconus (cornea), Becker muscular dystrophy (heart), DiGeorge syndrome (thymus), syndactyly (skin). Patients affected by these diseases need to go through life-saving organ transplantation and in the case of cystic fibrosis or alpha 1 anti-trypsin deficit, rare diseases patients may need multi-organ transplantation.

In addition to the common problems encountered by all patients undergoing organ transplantation some problems, which are specific to rare disease patients, can aggravate the situation. These problems are usually related to interaction with other drugs and to the influence of the disease itself on the success of the transplantation. For example, the immunosuppressive regimen - needed for reducing the risks of graft rejection - may interfere with other drugs or other clinic manifestations of the disease. This is particularly the case for patients affected by recurrent infections whose conditions will be worsened by the necessary immunosuppressive therapy.

Furthermore, rare disease patients suffer from inequality of access and are more dependent on transplantations from living donors. Inequality is due to the low number of patients for each rare disease concerned by organ transplantation, which mean there is a lack of validated transplantation indications for rare diseases.

In order to be accepted on a waiting list for organ transplantation, the patient must have the “good indication”, which involves that there has been an assessment of the benefit that the patient with a particular disease would gain through the transplantation. This assessment is very difficult to perform when the disease involves a very limited number of patients. Therefore, especially in the current context of organ shortage, a high number of rare diseases patients needing transplantation are not allowed on a waiting list for the organ they need in order to survive, because it has not been possible to assess the benefit.

'Due to all these reasons, Eurordis decided to respond to an Open Consultation on ODT that took place in June 2006,' explains Flaminia Macchia. 'In Eurordis' contribution we underlined the importance of ODT for rare disease patients and explained how they were worse-off than the average organ recipient.'

ODTIn that same contribution Eurordis suggested that the Commission fund a pan-European awareness-raising and information campaign involving patient representatives, so as to educate the public and enlarge the pool of potential donors. Eurordis recommended ways in which the case of rare disease patients can be addressed. For example, by creating a central EU registry in order to facilitate the search for the closest possible match between donor and recipient. Finally, Eurordis welcomed an EU Directive on quality and safety and advocated for an increased exchange of research and validation of rare disease indications, in order to reduce inequalities.

'Most of our arguments were listened to and taken into account by the relevant policy-makers at European level,' says Flaminia Macchia. 'Now a second Open Consultation is underway. The idea is to implement the suggestions of the first Consultation and produce an 'ODT Package' that would include an Action Plan on increasing organ availability and a proposal for a legally-binding Directive on improving quality and safety'.

The fact that Eurordis' contribution to the first consultation was well received, gives reason to believe that rare disease patient representatives should actively participate in the second Open Consultation in order to ensure that the resulting legislation takes into account the specificity of rare diseases and help reduce inequalities in this area. Eurordis is now looking for volunteers from its membership to join a Working Group to further develop our analysis and strengthen our arguments so as make sure the interest of rare disease patients is included in the final documents. This is your opportunity to shape the future of ODT European policy!

For more information about joining the Eurordis Working Group on ODT please contact: Flaminia Macchia, Director for European Public Affairs. E-mail: fmacchia@eurordis.org

This article was previously published in the May 2008 issue of our newsletter.

Author: Paloma Tejada
Photo credits: eye © Carmem L. Vilanova; ODT © BODY

Page created: 19/08/2009
Page last updated: 02/03/2010