Friday 28 June, 2019
Today, Friday 28th June, On International PKU DayThe PKU Association of Ireland (PKUAI) celebrate KUVAN® (sapropterin dihydrochloride), the only personalised medicine available to assist people living with the rare disease PKU, has received approval in specific circumstances from the HSE Senior Leadership team and proposed to be available from July 1st, 2019. 
In Ireland over 700 Irish people live with Phenylketonuria, or PKU (1: 4,500 people), one of the highest rates in Europe. The rare genetic disorder affects a person’s metabolism and is managed through strict, daily dietary therapy (“ultra diet for life”) 
KUVAN® approval has been made for those with specific indications according to an agreed protocol developed in collaboration with expert clinicians and patient representatives.
This is a crucial development for the treatment of PKU.  Previously assessed in 2009 and 2017 by the NCPE, KUVAN® was not recommended for reimbursement, however the drug received EU regulatory approval in 2008 and has since been widely used throughout Europe.
PKUAI celebrations also join PKU communities and organisations all over the world to mark this important PKU day in recognition of the critical medical findings and to further ongoing awareness about the rare metabolic disease.
The historic day (28th June) falls on the centenary birthday of Dr Horst Bickel the doctor responsible for developing dietary therapy, which critically assists prevention of neurological damage caused by PKU (Phenylketonuria) and the birthdays of Dr Robert Guthrie – inventor of newborn screening (Heel prick test).  Sheila Jones, the first child tested with dietary therapy treated by Dr Bickel, was of Irish descent. 
Fergus Woodcock Chairperson, PKUAI commented; As a patient organisation PKUAI are delighted this treatment is now available and feel empowered from our ‘patient’ involvement within the approval process.  We will continue to endorse dietary therapy for the entire PKU community, especially those who do not meet eligibility criteria for KUVAN, until new treatments become available.  We will also continue to strive for clarity on HSE application process for entry of new medical foods as the community has complete reliance on such and the process is protracted and complicated
PKUAI would like to extend particular thanks to the entire medical team in The National Centre for Inherited Metabolic Disorders (NCIMB) both ‘Children & families’ and ‘Adult’ Units for their ongoing commitment to our patient group and support in securing KUVAN® – a very lengthy process 
We acknowledge and appreciate the commitment of Professor Michael Barry, NCPE and Minister for Health, Simon Harris, TD, for involving PKUAI throughout this process.  Thank you for addressing the acute need for a new approach to assessing new medicines, treatments and therapies for rare disease groups. PKUAI hugely values the involvement of patient group perspectives for new drugs, primarily as quality-of-life issues continue and we hope all channels of communication will continue to remain open for new and innovative drugs coming into the marketplace to ensure best practice for our community, in line with European guidelines“. 
“We would especially like to thank party members who have championed our voice by highlighting the issue in the Dáil and Oireachtas in recent months”. 
“Huge thanks must be extended to all the families and patients who have dedicated their time and shared their lived experience of PKU, as this result would not have been possible without you”. 
Minister for Health Simon Harris PKUAI and International PKU Day commented; 
The PKU Association of Ireland was to the forefront of campaigning for access to this drug. I am so pleased that the HSE has approved it. I know this is a huge relief to the families affected by this disease and a special cause for celebration on international PKU Day. 
“As a health service, we will continue to make new and innovative medicines available and I am particularly pleased that the Cabinet has approved my plans to work with a range of other countries to ensure better access to new medicines and better value for the health service”.
Professor Eileen Treacy and Professor Gregory Pastores, Consultants, Adult Metabolic Service/Dept of Medicine/National Centre for Inherited Metabolic Disorders, Mater Hospital added; 
‘”We are delighted that following clinical trials on this medicine led by Prof Treacy starting in 2005, with subsequent clinical studies and accumulation of the relevant real world evidence of how this medication works in Irish adult patients, that this medicine will now be made available for potentially responsive patients, (patients who are likely to benefit from this medicine)”.
Both Prof. Pastores and Prof. Treacy emphasise that this medication and required monitoring should be made available on an equitable basis for all adult PKU patients nationally as well as for children. The necessary resources, to provide this service to adults, and the management of the process (i.e., prescribing, monitoring and outcome analysis of this treatment) are not in place to date.
The National Centre for Inherited Metabolic Disorders added; “NCIMD welcomes this advance in the management of PKU in Ireland. KUVAN treatment is likely to improve the quality of life for some patients with PKU by allowing them more freedom around dietary choices”.  
PKUAI extends special thanks to all of the PKUAI team, who work behind the scenes on a voluntary basis.
For further information contact: 
Emer O’Reilly, ORPR, T: +353 86 859 3658 E:
Additional information:

PKUAI advise PKU patients to contact the metabolic team they attend to secure additional information.  PKUAI is a voluntary organisation, which received official charity status earlier this year committed to providing help and support to those affected by PKU. Special thanks to each of the board members for their commitment to securing best practice for the PKU community. 

The PKU Association of Ireland is one of thirty six Irish patient organisations that have signed the charter on Patient Involvement in Medicinal Assessments and Reimbursement co-ordinated by the Irish Platform for Patient Organisations, science and Industry (IPPOSI), with the support of the Medical Research Charities Group (MRCG) and Rare Disease Ireland (RDI), The charter calls on the government to improve transparency, accountability, and communication on how medicines are assessed and reimbursed by the State. 


Approval has been made for KUVAN®in specific circumstances*, which will be assessed on an individual basis by your medical specialists.  Only a minority of Irish patients will benefit from Kuvan.


PKU dietary therapy removes 85% foods most people take for granted, including meat, fish, poultry, cheese, milk, bread, flour, rice, pasta, yoghurt, chocolate and all products containing the widely used sweetener aspartame. In addition, all other foods consumed must be strictly monitored for protein levels.  Diet is then balanced out with protein free foods and specially manufactured foods where the protein has been removed.


The ESPKU (European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria) is an umbrella organisation of about 41 national and regional associations from 31 countries.

Living with PKU

Even when the gruelling PKU diet is maintained, people managing the condition can still suffer long-term irreversible health conditions such as neurocognitive deficits, neurological side effects, growth defects, bone mass reduction, and obesity.