1. The PKU Registers Project Alison Munro Research Nurse Great Ormond Street Hospital

2. Registers History Set up in 1964 with MRC funding 1994 funding transferred to DOH Reported incidents began to dwindle 1998 funding & reporting ceased 2002 UKNSPC became custodians

3. Birth prevalence of PKU per year, based on UK PKU Register data

4. The UKNSPC began archiving the registers papers. Steering group formed to discuss the future. All parties positive the registers valuable research tool. Progress during 2004-2005

5. The Gaps…. Audit of Children born between 1994-2005. Work in conjunction with Charles Scriver’s “Out of Africa” research.

6. Proposed Outline of Audit Step 1: Identify Children Screened Positive for PKU. Step 2: Collect data from PIMs. Step 3: Data Analysis.

7. Why do we need to follow children born now with PKU? Anna with her children Madeleine (centre), who has PKU, and Isobel. Madeleine's PKU is managed successfully by diet and she excels at her school work. Photo: Anna Bailey http://www.sciencemuseum.org.uk/exhibitions/genes/228.asp

8. The Future In 2006 we plan to ask the 2700 individuals on the register what to do with their data.

9. Option 123 Remove name & address Retain all existing data Follow-up through NHS Central Register & Cancer registries Provide up to date contact details Receive invitations for future research

10. How ? Gain MREC approval. Contact individuals through clinics and GP’s. Full information packs to be distributed. Consent forms from patients.

11. Those lost ? Given the strong assent this information holds we propose to employ Option 3 for individuals who cannot be traced. This is dependent on relevant ethical & legal approval.

12. News & Progress reports NSPKU News & Views website. CLIMB’S Newsletter. Professional Meetings. UKNSPC website.

13. When will I be contacted? Lengthy process to gain Ethics approval. Full draft info sheets accompany this talk. Expect your information pack to be received in Autumn. Check NSPKU website for updates on progress. Full draft info sheets accompany this talk.

14. Questions? Full contact details for the team undertaking the project are enclosed in the information pack. BUT please refrain from approaching the team until you receive your information pack through your clinician.

15. Contact Alison Munro, Clinical Research Nurse. UK Newborn screening Programme Centre C/o Executive Offices Gt Ormond Street Hospital for Children NHS Trust London WC1N 3JH Tel: 0207 829 7883 Email: munroa@gosh.nhs.uk