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What
is happening to the PKU Register?
This information now is out of date but has been left here for information only.September 2007 update.Over the last year we have been contacting all people who were registered on the old PKU register to get their permission to hold their details and to contact them in the future. That project is now coming to an end. We are now beginning to wind up this project partly because funding for modernising this register is coming to an end. What next? We will be reporting the outcome to a steering group later this year and discussing the relevance of the findings for our follow up now of infants identified through screening. It’s not too late for you to register if you have not been contacted and think you should have been: - If you or a family member have PKU or hyperphenylanalaninaemia and would like to receive an information pack about the registers, including a consent form so that information about you/your child can be held on the register If you would like more recent information (well, as recent as available at least), please see: www.newbornbloodspot.screening.nhs.uk or more specifically: http://newbornbloodspot.screening.nhs.uk/registers for more information.
All enquiries relating to the registers should be directed to the UK Newborn Screening Programme Centre on uknewbornscreen@gosh.nhs.uk or 0207 829 7884. Background
The UK Phenylketonuria (PKU) register
was set up in 1964 with MRC funding in order to monitor the long-term health and
development outcomes of children who had an early diagnosis of PKU through
newborn screening. The register is internationally unique and has answered many
important questions about the longer term health of those with PKU, including,
for example, whether children with PKU have more behavioural problems and
whether the children born to women with PKU who are not on treatment are healthy
and develop normally. The register has also been used to make sure that the
national screening programme is working well, by giving information on the
timing and quality of treatment for children diagnosed through newborn
screening. Data collection for the register was
continuous until the mid 1990’s when funding became uncertain
and finally stopped in 1998. Unfortunately this meant that since 1994 the
register has not included all children with PKU in the In 2002 the UK Newborn Screening
Programme Centre (UKNSPC) was set up to develop standards and monitor the
quality of newborn blood spot screening in the We began this work by storing all the
register paper files, which are now held at the Records Office at UCL, where
only authorised individuals working at the UKNSPC can access them. The computer
files have been converted to a modern format where they can be easily accessed
and analysed and are stored securely with authorised access only. In addition, we organised a series of
meetings about the registers, with groups representing metabolic and laboratory
clinicians as well as with the NSPKU and CLIMB who represent the interests of
patients and their families. They all expressed strong support for the PKU
register and felt it should be continued as it
would be highly valuable for research into the longer term outcomes of
women and men with PKU and their children as well as the outcome for children
who are on a ‘diet for life’ which was only introduced in 1993. Modernising the
register
However, we realised that the register needed modernising, not least because the 1998 Data Protection Act means that now we need to ask people consent to hold their information whereas most of the register data was collected before that law was passed, So we have been developing a plan to do this with the help of PKU doctors and nurses, as well as the NSPKU and CLIMB. As a first step we had to get the approval of the London Multicentre Research Ethics Committee. We have now received this and will be contacting all the individuals whose data are held on the register through their hospital doctors. If patients are not being seen regularly at a hospital, we will contact them where possible through their general practitioner. If you have PKU
and were born before 1994
If you have PKU and were born in the When you hear from us you will be asked
to decide what you would like to happen about the information we hold on the
register. There are three choices – you can
Your choice will not influence the care
you receive from your doctor and the health service.
We will be sending out information packs to patients and families through
their clinicians this autumn and winter. Children aged 12 to 16 years will also
be able to give their consent and, in the longer term, we will seek consent of
children once they become adults. Children
and adults with special needs may need the help of their parent or carer to give
informed consent. Children born from
1994 on
If you are a parent of a child with PKU
who was born in the We are currently working with the
screening laboratories and the clinics to identify these children who are
unlikely to have been notified to the register. We want to be able to follow
them up in the longer term in much the same way as we have done for children
born before 1994. This means we will be writing to all PKU children born from
1994 onwards through their doctors to ask their parents for consent to include
their information on the register. We are hoping to have reached everyone
with PKU, no matter when they were born, by the end of 2006. If by then you have
not received an information pack and then please do not hesitate to contact us,
or your current PKU doctor, nurse or dietitian. Future research
Doctors and scientists will be
developing some research studies based on the register. There is a lot of
interest in learning more about the progress of children who were continued on
life long diet when this became policy in the early 1990’s, as well as
updating our information about the children of mothers with PKU. These kinds of
questions are ones that the NSPKU and other organisations have told us matter to
those with PKU and their families. The NSPKU and CLIMB are represented on a
steering group*** that oversees the register, as is the British Inherited
Metabolic Diseases Group and the UK Newborn Screening Laboratory Network. All
proposed studies need the approval of this group as well as ethical approval to
go ahead. Even then, if you are approached, you will always have a choice about
whether to take part or not. The NSPKU strongly support the PKU
register and is also available to provide support and information about PKU.
News and progress reports about the PKU register will be made available through
The NSPKU website, News & Views, CLIMB’s newsletter and the UKNSPC
website. We are very grateful for your support in this important work which is being carried out to ensure that research can continue to the benefit of future generations of children with PKU and their families. *** The PKU
registers steering group members were: Dr Don Bradley,
Laboratory Director, Mr Steve
Hannigan, Executive Director, CLIMB Dr Philip Lee,
Metabolic Consultant, Dr Hilary
Leslie- Laboratory Director, Dr Peter
Robinson, Metabolic Mr Dave Stening,
Chair person, NSPKU . |
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