Dear Parent/Guardian,
As you may be aware, the HSE has now indicated that it will fund Kuvan® for those patients with PKU that are clearly responsive to it. Kuvan® is a drug that can help reduce phe levels in the body in a small group of patients with PKU. This funding is due to become available in July 2019 on a managed access basis.
WHAT DOES MANAGED ACCESS MEAN?
It means that in order for a patient to be funded for this medication, the metabolic team must follow agreed guidelines and formally demonstrate that the patient is clearly responsive to the medication. This is a reasonable measure put in place to ensure that only patients who will benefit from the treatment, receive it.
HOW WILL I KNOW IF MY CHILD IS RESPONSIVE TO KUVAN® ?
The metabolic team may have already taken a blood sample from your child to find the two ‘variations’ or ‘changes’ on the gene that cause their PKU.
Some changes on the gene are not ‘responsive’ and therefore patients with two ‘non-responsive’ changes will not get any benefit from Kuvan®. Some mutations are known to be ‘responsive’. A child with two responsive genes is likely to respond to Kuvan®.
If your child has not yet had this blood test taken, it will be scheduled to be taken at your next outpatient appointment with the metabolic team.
For some patients, it will be clear-cut from their genetic information whether a child is likely to ‘respond’ or not. For others, it may not be clear-cut (e.g. where there is one gene change that is ‘responsive’ in combination with one that is ‘non-responsive’). A trial of Kuvan® will be needed to see if your child is responsive or not.
WHAT WILL THE TRIAL OF KUVAN® INVOLVE?
For a child with two known responsive gene changes, the consultant/team will meet with you and explain further about Kuvan®; what is involved and any potential side effects. If your child is very likely to respond, a hospital admission might not be necessary.
For a child who has one ‘responsive’ gene in combination with one ‘non-responsive’ gene, we will not know if your child will respond until we test them with a trial. This may involve a hospital admission for the initial 48 hours to give the medication, see how the medication is tolerated and do very frequent blood tests to determine if the child’s phe levels fall enough following a dose of Kuvan®. It may also involve a longer trial at home with frequent food diaries and blood levels.
DOES MY CHILD HAVE TO PARTICIPATE IN THE TRIAL?
No, it is up each family to decide if they would like their child to have a trial of medication or not.
Some of our patients will see this as a very exciting development and welcome the changes to the treatment their child has been receiving.
Some may be worried or anxious about changing their child’s treatment. Please be aware that the metabolic team is available at your clinic visits to answer your questions and offer advice.
It is important to remember that dietary management remains a successful treatment for PKU and will continue to be the main treatment for the majority of our patients with PKU.
IF YOU DECIDE TO HAVE YOUR CHILD TESTED TO SEE IF THEY ARE RESPONSIVE, YOU WILL NEED TO FOLLOW VERY STRICT GUIDELINES IN RELATION TO:
- Provide frequent and accurate diet diaries for the duration of the trial.
- Maximise protein intake to establish exactly their maximum protein prior to the trial.
- Attendance at clinic on specific days.
- Be prepared to stay for hospital admission if it is necessary.
- Send frequent blood levels through the time of the trial.
- Be available to the team to take calls in relation to changes to diet.
- Follow the diet changes prescribed, even if this means giving a lot more protein exchanges than your child has been taking before.
While we very much welcome this addition to treatment options for PKU, we are aware that it will not apply to many of our patients. Many of the children who undergo a trial will not respond sufficiently to justify on-going Kuvan® treatment. Even for those who respond, it is very unlikely to entirely replace their specialised diet, but will give them a little more dietary freedom.
We have many patients with PKU who will need to have a trial. This will take considerable time and resources from our team – therefore, please be patient in relation to being given a date for your child’s trial. We cannot implement these changes for all our patients at the same time. Appointments will be offered in the fairest and most equitable manner possible, by following procedures established at centres already using Kuvan® internationally.
Parents will shortly be contacted directly by post, and you will be able to indicate whether or not you would be interested in a trial of Kuvan®.