Potentially life changing drug given the green light for patients of rare disease

Marianne Foody

Image Credit: Eric Sheler

The HSE have granted approval for the use of a drug that is widely available across the rest of Europe to treat the rare-illness Phenylketonuria (PKU) after ten years of Irish patients seeking access to it.

Kuvan, a drug available in most European countries since 2009, was deemed ‘not cost-effective’ on two occasions by the National Centre for Pharmacoeconomics (NCPE) despite Ireland holding one of highest rates of PKU cases worldwide.

Phenylketonuria, or PKU, is a rare genetic disorder in which the patient has a deficiency of the PAH enzyme that breaks down Phenylalanine, one of the amino acids in protein.

Due to this inability to process protein normally, people with PKU must maintain a strict diet for life, free of all high-protein foods such as meat, fish, eggs, and milk.

All necessary protein, vitamins, and minerals must be taken in the form of low-protein foods and a supplement bought in a pharmacy.

According to Dr. Ahmed Monavari, director of the National Centre for Inherited Metabolic Disorders at the Children’s University Hospital Temple Street, Ireland has the highest incidence of PKU in the Western world.

Dr. Monavari said that one in every 4,500 children test positive for the condition at birth, with 1 in 33 Irish people carriers of the gene that causes PKU.

Many families faced the dilemma of possible emigration in order to get access to Kuvan for their children prior to the announcement in March that the drug now been approved by the HSE’s senior leadership team.

The PKU Association of Ireland (PKUAI) confirmed that the drug will be available in “specific circumstances to our patient group for reimbursement from July 1st, 2019”.

‘’We’re extremely grateful to all the medical staff at the National Centre for Inherited Metabolic Disorders (NCIMD) for their support in getting this over the line,” the Association said. “We’d also like to thank the patients who came forward and shared their lived experience of PKU.’’

In February 1966, Ireland became the first country in the world to introduce a national screening programme for PKU.

However, anyone born pre-1966 that was left undiagnosed and untreated was usually institutionalized as the condition causes severe neurophysiological problems when protein builds up in the brain leading to physical and intellectual disability.

The NCPE assess drugs on a quantitative basis. As there are only 732 people in the country with the potentially brain damaging disorder, orphan drugs such as Kuvan have found it very difficult to make the cut in the past.

Speaking on the issue last November, Dr. Lesley Tilson of the NCPE said:  ”The same process is used for orphan, ultra-orphan, and drugs such as Panadol. It strikes me that there is a case to be made for [these] drugs being assessed in a different way as they do in other countries.”

Philip Watt, CEO of Cystic Fibrosis Ireland spoke on the issue as he had experienced the process first-hand when trying to get the Orkambi drug reimbursed in Ireland which was also deemed ‘not cost-effective’ by the NCPE.

Mr Watt said: ”This government it would seem is concerned with keeping down costs rather than looking at what works. The media played a big role in obtaining Orkambi for CF patients in Ireland”.

In Ireland, the NCPE bases its decisions on cost-effectiveness alone which, according to Fianna Fail TD John Brassil, is not sustainable for the likes of rare-illness drugs and goes against the provisions laid out in the National Rare Disease Plan for 2014-2018 which envisions,

‘An Ireland where people with rare-disease receive timely access to the best possible evidence-based, patient-centered and family-centered screening, diagnosis, treatment and care through all stages of their lives’.

Last year, Brassil proposed a Bill to the Dáil that looked to change how the NCPE assess rare-illness and orphan drugs.

The Health (Pricing and Supply of Medical Goods) (Amendment) Bill 2018 seeks to reform the HSE’s current reimbursement process by establishing for the first time a unique process for assessing an orphan drug for reimbursement in Ireland.

When asked about media influence on the issue, Brassil maintained that: ”Unfortunately, it seems to be a case of whoever shouts the loudest is first on the agenda, which is very unfair”.

Miroslaw Bik-Multanowski is a PKU researcher and expert in molecular biology and genetics at the University of Jagiellonian. She argues that there is a need for more research and development in the area.

”Currently, there is no generally accepted strategy to detect subtle neurophysiological and neuropsychological abnormalities in adolescents with PKU. In my opinion, this needs to be improved as it could increase the chances of teenagers with PKU to start their adult lives in optimal mental condition.”

The availability of Kuvan in Ireland comes as positive announcement for the PKU community and Karen Willetts of PKUAI has said their next step is to increase the visibility and awareness of PKU in the country.

Marianne Foody

Image Credit: Eric T. Sheler