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GSG Register

UK GALACTOSAEMIA REGISTERS

Pat Portnoi GSG Register Coordinator;
Dr Anita MacDonald, Consultant Dietitian in Inherited Metabolic Disorders, Birmingham Children’s Hospital;
Andrew Morris, Consultant Metabolic Paediatrician, Royal Manchester Children`s Hospital;
Anupam Chakrapani, Consultant Metabolic Paediatrician, Birmingham Children’s Disorders Hospital.
   
INTRODUCTION  
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Galactosaemia is a rare inherited metabolic disorder caused by a deficiency or absence of the enzyme galactose -1-phosphate.
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In the UK the incidence of galactosaemia is about 1:45000, so between 12 and 18 children each year are born with galactosaemia.
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In the UK, unlike many other countries, there is no screening for galactosaemia. Children are managed by their local hospitals, and as there are small numbers of patients, few centers perform any research
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Long-term problems have been reported such as:
 
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neurological deficits,
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dyspraxia and other learning difficulties,
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cataracts,
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infertility in females
 
 
 
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In the UK, long-term outcome data is lacking in galactosaemia and there is little overall research on galactosaemia.
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Collecting basic information about patients with galactosaemia and keeping on a register will provide a tool to help assist national research in this rare disorder.
   
The Registers  

1) The 1994-2002 Register

  • This comprehensive register was set up in conjunction with the GSG (Galactosaemia Support Group), as there is no centralized data collection in galactosaemia
  • It was run and held at the RCPCH ( Royal College of Health and Paediatrics) in London from 1994-2002
  • It was funded by sponsorship and support from the GSG and other sources.
  • It contains data on 113 new born children
  • The register and funding ceased in 2002
  • There are now plans for the RCPCH to move so it is important to try and keep the data intact and transfer data with the agreement of patients and their carers.
   

2) The New Register 2008 onwards

  • The GSG started a new register in 2008.
  • The aim is to store basic data on all patients with galactosaemia who may be approached at some later stage to take part in research
  • Minimum information is collected and stored about each patient: mainly data about patient contact details only.
  • The register is monitored by the MAP (Medical Advisory Panel) of the GSG, and run by Pat Portnoi, a health professional with 25years experience working in metabolic disorders.
  • Any potential researcher will need to approach the MAP of the GSG, submitting a full protocol of their ethically approved study.
  • The Medical Advisory Panel will then consider the suitability of all studies. If they are approved, the register coordinator will approach patients/carers on the register to see if they would like more information about specific studies.
  • This register started recruiting in January 2008.
   

3)Transfer of 1994-2002 Register

  • There are now plans to transfer the information held at the RCPCH and collected between 1994-2002
  • The aim is to hold this data alongside the new register data currently being collected
  • Ethical permission is currently being sought.
  • UK hospital paediatric teams will be contacted during 2009 for help in contacting those patients on this register, who will now be 7-14 years of age.
   

4) Self registration to the new register

  • Information about the new register is available on the GSG website* or directly from Pat Portnoi*( see information below)
  • It is possible for those born outside the scope of these 2 registers to self- register by using the forms on the GSG website.
  • The self registration process will be advised more widely in late 2009.
   
Progress so far with the new register
  • 14 patients have now been recruited to the new register
  • 9 patients were born in 2008 (expected incidence 12-18 per year)
  • 5 patients registered were over 1 year of age
  • There is probably under reporting of new patients on the register.
   
DISCUSSION  
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Many patients being registered are 6 months of age or over
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There is likely to be a delay between diagnosis and registration of new patients (as consent as to be sought from carers) so hopefully more individuals will register from now on
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Reminders need sending to those involved and will be sent regularly
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Those working with galactosaemia patients, who manage a new patient with galactosaemia, should ask themselves “Have I registered this patient? If not, why not?”
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Suggestions to help with the process are welcomed by the register co-ordinator: contact pat.portnoi@virgin.net.
   
CONCLUSION  
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All information about the register is on the website of the GSG or is available from the register co-ordinator.
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Many thanks to all those health professional who have helped register new patients with galactosaemia since 2008.
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14 individuals with galactosaemia have been registered at the end of February 2009
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For those of you who have yet to register your patients, we would value your help. Continued support and help from all UK paediatric units is needed to enable the success of 1) the new register and 2) the transfer register in 2009
   
For further information contact:-

*Pat Portnoi

Galactosaemia Register Coordinator

5 Granville Park

Aughton

Ormskirk

Lancs L39 5DS

01695422247

pat.portnoi@virgin.net

*Galactosaemia Support Group

31 Cotysmore Rd

Sutton Coldfield

Birmingham B75 6BJ

www.galactosaemia.org

Download the self-registration forms by clicking here.