Wereld Zeldzame Ziekte Dag: Europese Vereniging voor fenylketonurie (ESPKU) wil de zorg voor PKU patiënten verbeteren
Array
Vandaag is het Wereld Zeldzame Ziekte Dag en de Europese Vereniging voor fenylketonurie (ESPKU) roept beleidsmakers om actie te ondernemen om de zorg voor PKU patienten in heel Europa te verbeteren.
In Nederland is er een vrij goede behandeling en de opties zijn, in vergelijking met andere Europese landen, prima. Maar er moet een betere controle van volwassen patienten om ervoor te zorgen dat ze hun volledige potentieel te bereiken zijn. Nederlandse PKU deskundige en kinderarts Francjan van Spronsen speelt een leidende rol in Europa in de ontwikkeling van monitoring oplossingen, hij heeft een pilot-online monitoring programma voor PKU patienten.
PKU is een van de meest voorkomende “zeldzame” ziekte in Europa, die 1 op de 10.000 mensen in Europa. Veroorzaakt door een genetische stoornis, een ernstige onbehandelde geval van PKU leidt tot diepgaande en onomkeerbare mentale handicap. Met behandeling kan mentale retardatie worden teruggedraaid. PKU patienten moeten een streng dieet dat vaak grote invloed op de patient, maar ook van de verzorger van de kwaliteit van het leven te volgen.
———————————————————————–
PRESS RELEASE
World Rare Disease Day 2012
E.S.PKU urges policy makers to close significant gaps in care for patients with Phenylketonuria (PKU) across Europe at the European Parliament
BRUSSELS, 29 February 2012 – Today, on World Rare Disease Day, the European Society for Phenylketonuria and Allied Disorders (E.S.PKU) urged policy makers to bridge significant gaps in Phenylketonuria (PKU[i]) care across Europe during a lunch debate at the European Parliament. The E.S.PKU presented a set of recommendations based on the first PKU benchmark report “Closing the Gaps in Careâ€[ii], launched on this occasion. The event was hosted by Members of the European Parliament (MEP) Esther de Lange and Antonyia Parvanova.
Esther de Lange, MEP, said: “Unfortunately, for many diseases, as for PKU, vast differences exist between European Union (EU) countries. Therefore the EU Council Recommendation on the implementation of rare disease plans is a welcome signal. I invite national governments to include PKU as an example in these plans, including strong guidance on high standards of screening, care and treatment.â€
“The level of health inequalities faced by patients suffering from PKU in Europe is unacceptable. Debating these with members of the Parliament in Brussels is a crucial step to draw attention to the condition which is one of the most common rare diseases in Europe[iii],†said Eric Lange, President of E.S.PKU. “Through this initiative, we call on European policy makers and other decision-makers to help us give our PKU patients an equal chance of living a healthy and productive life, no matter where they live.â€
Maria Gizewska, Paediatrician, Poland, stressed: “The medical community is well aware of their responsibility and role in finding broader consensus on therapeutic threshold, treatment targets and advice. Despite recent advances in many aspects of PKU, there is however still a lack of baseline data on the condition globally, and more clinical evidence is needed to overcome this knowledge gap.â€
The panel discussion resulted in the announcement of a set of recommendations, including the following six issues:
- Better information and awareness of treatment options, care and support needed for patients with PKU
- Ensure equal access for all PKU patients to the same treatment options including dietary and drug treatment across Europe – Establish and foster plans to ensure all treatment options are equally available and accessible.
- Harmonised approach in the EU on reimbursement policies for all available services and treatments including dietary management with amino acid supplements and low protein foods and drug treatment – PKU is a chronic condition that a patient lives with throughout his or her life. Patients need life-long financial, medical and social support. There is no reason why reimbursement should stop at a certain age.
- Standardisation of care on national level and across Europe – Greater consistency in both treatment goals and outcome measures will give patients and carers greater certainty of receiving the optimal care and will also help streamline the optimization process of protein/amino acid substitute formulas.
- Additional research to initiate and implement measurable compliance and neurocognitive programmes to help patients achieve their full potential and a good quality of life – Showcase countries in which patients, carers and healthcare professionals collaborate well and achieve favourable compliance to life-long treatment. Demonstrate which differences good compliance and neurocognitive outcome can make on medical, personal and economic level within each stage of a patient´s life.
- Foster the development of tools for easier access to low Phe food within a country and across Europe – With today´s technologies, patients should not have to travel far in order to buy medical products.
Eric Lange, E.S.PKU, concluded: “I call on those here in the room today to include PKU in activities undertaken at EU level such as the upcoming initiatives on Newborn Screening, and the Implementation Report on National Plans. Further, I would like to encourage healthcare professionals in particular to continue their endeavours in developing much-needed clinical guidance to ensure that all PKU patients receive the optimal care they deserve.â€
The debate is the first of a series of E.S.PKU initiatives to prioritize PKU as a rare disease on national health agendas, address unequal access to treatment and gaps in reimbursement. These initiatives are supported by an unrestricted grant from Merck Serono.
We further invite you to watch and download the full launch debate at www.blastmedia.eu/espku (webcast available on the 29th February from 4pm CET onwards).
About the Benchmark report “Closing the Gaps in Careâ€
The ESPKU Benchmark report aims to give PKU patients and their families a greater voice. The research in the report is based on a qualitative survey based on a series of stakeholder interviews from five EU member states – The Netherlands, Poland, Spain, Sweden and the United Kingdom – together with a literature review and desk research. The survey sought insight to issues including, the social impact of PKU, applied treatment and care and the PKU health policy agenda. The report was supported by an unrestricted grant from Merck Serono.
The full report can be downloaded at www.espku.org.
About Phenylketonuria (PKU)
PKU affects around 1 in 10,000 children born in Europe. PKU is an inherited rare chronic condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. Phenylalanine is commonly found in high protein foods such as dairy products, eggs, red meat, chicken, etc. If not detected and treated soon enough, phenylalanine can cause irreversible damages to the brain. Although treatments exist in Europe, inconsistencies persist in many countries with regard to access to adequate treatments and reimbursement policies.
About ESPKU
The European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU) is the umbrella organisation of about 23 national and regional associations from 23 countries established by parents. Since 1987, representatives of most European countries have come together to improve the quality of life of persons afflicted. The main event of the E.S.PKU is a yearly European conference. This conference is unique, since both patients (and parents) as well as medical representatives join this meeting and have the opportunity for scientific and personal exchange. www.espku.org
[i] PKU affects around 1 in 10,000 children born in Europe. PKU is an inherited rare chronic condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. More information at www.espku.org
[ii] The benchmark report can be downloaded from the E.S.PKU website: Â http://www.espku.org/images/
[iii] Phenylketonuria (Seminar). Blau et al, Lancet (376):1417-27, 2010.
