11 minute read
PKU watch: Edale Outdoor Activity Weekend with Lyndsey Regan
by Lyndsey Regan Dietetic Technician
Seventeen children with PKU aged from eight to 11 travelled from various centres to attend the NSPKU Edale outdoor weekend in July. Lindsey Regan, along with dietitian Cerys Gingell, accompanied three children from Nottingham PKU along with her colleague.
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Not only is the Edale weekend a fantastic opportunity to spend time with the PKU children doing lots of exciting activities, but it is a good learning opportunity for both the children and the dietitians. As a dietitian and dietetic technician, Cerys and I were able to spend valuable time with the children in our group, building better relationships in a less formal setting. The children responded well to this environment and felt they could be more open about their PKU diet.
It was a pleasure to see the children from Nottingham having their meals and supplements with other PKU children and having the confidence to eat suitable meals outside of their own houses. For some children it was an opportunity to try new foods and amino acid supplements and all were able to learn positively from each other.
We would certainly recommend this weekend for any children of this age group and for their dietitians. We returned the exhausted children on the Sunday afternoon to their parents, all delighted with a very enjoyable weekend.
Before long, they shout a ‘Goodbye’ to their parents… after all they are too busy meeting new friends.
The activities begin with the icebreakers - lots of fun games that help everyone remember each others names. 5.00pm Teatime - What a fantastic menu! Low protein (LP) lasagne or vegetable curry all served with salad, free vegetables and the LP breads tasted amazing. For dessert the children choose between LP apple crumble, LP custard and tinned fruit and can choose which foods they want to make their exchanges up with: chips, peas, ice cream, yoghurts or single cream. They then carefully work out with a helper how much they need to weigh out on the scales. This is how it worked at every mealtime.
The protein substitutes are distributed and the children race each other to drink these and enjoy chatting about which one they take and the number of exchanges they are allowed.
Delicious LP cake
6.45pm The evening activities begin…a treasure hunt in teams and word puzzles to unscramble - and of course the tuckshop opens. 8.30pm The children enjoy some time in their rooms to make new friends and eventually get ready for bed. 9.00am After breakfast the Activity Coordinators divide the children and helpers into two groups. My group go to Monsal Head viaduct - it looks very high! Climbing over the bridge is scary, particularly when faced with children singing ‘I believe I can fly!’ 1.00am I'm so hungry… Lunch is served: LP sandwiches, LP sausage rolls, LP biscuits, fruit, jelly and LP cakes. Exchanges: crisps, Cheezley, single cream, yoghurts, ice cream.
Climbing Monsal Head Viaduct
2.00pm The afternoon activity is canoe/ rafting. Teams are split between the rafts and the competitions begin. Much splashing and fun with the water! 5.00pm Well deserved food: LP tomato and mushroom pasta, LP vegetable crumble, free vegetables, gravy, LP Scotch pancakes and fresh fruit. Exchanges: jacket potatoes, sweetcorn, yoghurt and ice cream. 6.00pm Archery in teams followed by an assault course. The evening ends with LP chocolate cake, a chocolate fountain with Vitabite and fresh fruit.
Sunday 12 July 09 7.30am A hearty breakfast, then straight off for the morning activities. Half the group head off to Stannage Edge for rock climbing and abseiling whilst the others go to Higa tor for weaselling. 12.30 Lunch time: a yummy pack-up which we are all in need of! Goodbyes are said and the children hope to see their new friends again next year.
The Nottingham group
Edale Diary
Friday 10 July 09 1.30pm Arrived on time at Edale YHA. It’s in a beautiful setting. All the children are waiting anxiously with their parents - they all seem very quiet at this stage! Saturday 11 July 09 7.30am Rise & shine! Breakfast is served: a selection of LP cereals with LP milks, LP toast with Jam and marmalade, fruits. Or hot breakfast: LP sausages, mushrooms, tomatoes and LP toast/ fried bread. Exchanges are a choice of baked beans and yoghurts Protein substitutes are distributed.
All tired out!
ADVERTISEMENT KUVAN ® CASE STUDY
Adults and children with hyperphenylalaninaemia (HPA) due to BH 4 deficiency, and adults and children over the age of four years with HPA caused by phenylketonuria (PKU), can now be offered the oral treatment sapropterin dihydrochloride (Kuvan ® ).
Responsiveness to Kuvan ® must be established before long-term treatment can be commenced. 1 A four-week trial with Kuvan ® is recommended, starting with 10 mg/kg/day. This can be increased to 20 mg/kg if a satisfactory response (*30% decrease in blood phenylalanine; Phe) is not achieved after one week. 1
Trials have shown that patients with mild HPA are most likely to respond to Kuvan ® , but responsiveness has been observed across the HPA/PKU population. 2 In responders, the number of patients achieving a Phe target of <360 µmol/L was significantly increased in those taking Kuvan ® compared to placebo. 3 In a separate trial, children compliant with a Phe-restricted diet who responded to Kuvan ® were able to increase their daily Phe supplement by 21 mg/kg/day compared to baseline. 4
This is the second of three case studies that describes a patient who has been treated with Kuvan ® . His name has been changed to protect his identity. He was treated by the inherited metabolic disease team at the Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London.
CASE HISTORY
Kevin is 35 years old, works full time and lives with his wife and their two young children. He was diagnosed with PKU during routine post-natal screening and began a Phe-restricted diet within the first few weeks of life. Other than occasional migraines he has no medical history of note. Neuropsychological testing has always shown that Kevin has an above average intelligence quotient (IQ). He progressed well through school achieving good grades at GCSE and A-level and he went on to study engineering at university before completing a masters degree.
Throughout childhood Kevin maintained a strict low-Phe diet and took eight exchanges, which relaxed in his teens to 10–14 per day. His blood Phe level was around 650 µmol/L at this time, which is within the target range for adults and children over the age of 10 years (120–480 µmol/L, although levels up to 700 µmol/L can be accepted 5 ). As an adult, Kevin further relaxed his diet and relied on guesswork to measure his supplements and weigh exchanges. He began to struggle to get enough highenergy, low-protein food to suppress his hunger and was slightly underweight as a result. In early 2005 his blood Phe levels ranged between 608 and 1180 µmol/L (mean: 878 µmol/L).
Prescribing Information
Please refer to the Summary of Product Characteristics for further information
Kuvan ® T100 mg soluble tablets. Sapropterin dihydrochloride. Presentation Off-white to light yellow soluble tablet with “177” imprinted on one face. Each tablet contains 100 mg of sapropterin dihydrochloride (equivalent to 77 mg of sapropterin). Indications Treatment of hyperphenylalaninaemia (HPA) in adult and paediatric patients of 4 years of age and over with phenylketonuria (PKU) who have been shown to be responsive to such treatment. Treatment of hyperphenylalaninaemia (HPA) in adult and paediatric patients with tetrahydrobiopterin (BH4) deficiency who have been shown to be responsive to such treatment. Dosage and administration Treatment must be initiated and supervised by a physician experienced in PKU and BH4 deficiency. The tablets should be administered as a single daily dose with a meal, and at the same time each day, preferably in the morning. Patients should be advised not to swallow the desiccant capsule found in the bottle. PKU The starting dose is 10 mg/ kg body weight once daily. The dose is adjusted, usually between 5 and 20 mg/kg/day, to achieve and maintain adequate blood phenylalanine levels as defined by the physician. BH4 deficiency The starting dose is 2 to 5 mg/kg body weight once daily. Doses may be adjusted up to 20 mg/kg/day. It may be necessary to divide the total daily dose into 2 or 3 administrations, distributed over the day, to optimise the therapeutic effect. Adults The prescribed number of tablets should be placed in a glass or cup with 120 to 240 ml of water and stirred until dissolved. Paediatric patients The prescribed number of tablets should be placed in a glass or cup with up to 120 ml of water and stirred until dissolved. Kuvan has not been specifically studied in paediatric patients under 4 years of age. Safety and efficacy of Kuvan in patients above 65 years of age or with renal or hepatic insufficiency have not been established. Caution must be exercised when prescribing to such patients. Contraindications Hypersensitivity to the active substance or to any of the excipients. Precautions Patients must continue a restricted phenylalanine diet and undergo regular clinical assessment (such as monitoring of blood phenylalanine and tyrosine levels, nutrient intake, and psycho-motor development). Active management of dietary phenylalanine and In May 2005, Kevin consented to participate in the Kuvan ® clinical trial programme. At this stage he was taking 24 exchanges and four PKU supplements per day. Screening study This trial tested for responsiveness. Kevin took Kuvan ® 10 mg/kg for eight days without altering his normal dietary intake. His Phe level fell by 44% (from 882 µmol/L to 493 µmol/L), which meant that he qualified as a ‘responder’ and was able to continue into the placebo-controlled trial. Extension study This trial experimented with different doses of Kuvan ® . After two weeks of taking 5 mg/kg per day, Kevin’s blood Phe level was 605 µmol/L. His dose was then increased to 20 mg/kg per day for two weeks, and his blood Phe level fell to 439 µmol/L. Long-term study In this long-term study, Kevin took 10 mg/kg and had an average blood Phe of 796 µmol/L (range: 326–987 µmol/L).
KEVIN TODAY
Kevin has continued on a dose of 10 mg/kg (this equates to eight tablets dissolved in water) and has been able to relax his Phe-restricted diet and stop taking daily amino-acid and vitamin supplements. He has introduced occasional red meat, chicken, fish, cheese and other dairy products into his mainly vegetarian diet. Kevin still has regular monitoring, particularly for his B12 levels, since these are at risk of falling now that he no longer takes supplements. Kevin reports an improved quality of life and he no longer feels hungry all the time. He enjoys the increased food choice he now has due to relaxing his low-Phe diet. He is also pleased he does not have to carry large amounts of supplements when travelling abroad, and he no longer has to remember to take them throughout the day.
CONCLUSION
This patient has been able to relax his Phe-restricted diet and stop taking amino-acid and vitamin supplements since taking Kuvan ® . He hopes to continue Kuvan ® in the future.
IN BRIEF UÊ ÎxÞi>À`Ê>ÊÊ* iÀiÃÌÀVÌi`Ê`iÌÊÃViÊLÀÌ UÊ i}>Ê ÕÛ> ® ÊÌÀ>ÊÊÓääxÊ>`Ê >ÃÊVÌÕi`ÊÌÀi>ÌiÌÊÃViÊÌ i UÊ Ê}iÀÊÌ>iÃÊÃÕ««iiÌÃÊ>`Ê >ÃÊÀi>Ýi`Ê ÃÊÜ* iÊ`iÌ UÊ ,i«ÀÌÃÊ«ÀÛi`ʵÕ>ÌÞÊvÊvi UÊ VÌÛiÊ>>}iiÌÊvÊ`iÌ>ÀÞÊ* iÊ>`ÊÛiÀ>Ê«ÀÌiÊÌ>iÊÜ iÊ taking Kuvan ® ÊÃÊÀiµÕÀi`ÊÌÊiÃÕÀiÊ>`iµÕ>ÌiÊVÌÀÊvÊL`Ê* iÊ levels and nutritional balance 1
UÊ /Ài>ÌiÌÊÜÌ Ê ÕÛ> ® must be initiated and supervised by a specialist physician 1
REFERENCES
1. Kuvan (sapropterin dihydrochloride) Summary of Product Characteristics. Merck Serono, December 2008. 2. Burton BK et al. J Inherit Metab Dis 2007; 30: 700–707. 3. Levy HL et al. Lancet 2007; 370: 504–510. 4. Trefz FK et al. J Paediatr 2009; 154: 700–707. 5. NSPKU. Management of PKU. February 2004. Available at http:// www.nspku.org/Documents/Management%20of%20PKU.pdf Date of Preparation: October 2009 Job Number: KUV09-0108
overall protein intake while taking Kuvan is required to ensure adequate control of blood phenylalanine and tyrosine levels and nutritional balance. Consultation with a physician is recommended during illness as blood phenylalanine levels may increase. There are limited data regarding the long-term use of Kuvan. Caution is advised when sapropterin is used in patients with predisposition to convulsions. Sapropterin should be used with caution in patients who are receiving concomitant levodopa, inhibitors of dihydrofolate reductase or agents causing vasodilation by affecting nitric oxide metabolism or action. Pregnancy and lactation Kuvan should be considered only if strict dietary management does not adequately reduce blood phenylalanine levels. Caution must be exercised when prescribing to pregnant women. Kuvan should not be used during breast-feeding. Side effects Side effects include: Headache, Rhinorrhoea, Pharyngolaryngeal pain, Nasal congestion, Cough, Diarrhoea, Vomiting, Abdominal pain, Hypophenylalaninemia. Rebound, as defined by an increase in blood phenylalanine levels above pretreatment levels, may occur upon cessation of treatment. Prescribers should consult the Summary of Product Characteristics for further information on side effects. Legal category POM Basic NHS price Kuvan 100mg tablets (30) £597.22 Kuvan 100mg tablets (120) £2,388.88 Marketing Authorisation Holder and Numbers: Merck KGaA, Frankfurter Str. 250 64293 Darmstadt, Germany EU/1/08/481/001 (30 tablets) EU/1/08/481/002 (120 tablets) For further information, including price queries, contact: UK: Merck Serono Ltd, Bedfont Cross, Stanwell Road, Feltham, Middlesex, TW14 8NX. Tel: 020 8818 7373 Republic of Ireland: Merck Serono, 3013 Lake Drive, Citywest Business Campus, Dublin 24. Tel: 01 4661910 Date of Preparation: August 2009 Job Number: KUV09-0093
