Self 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

  • 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 centres perform any research.
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  • Long-term problems have been reported such as:
  •    Neurological deficits,
  •    Dyspraxia and other learning difficulties,
  •    Cataracts,
  •    Infertility in females
  • 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 Of The GSG

1) The UK Galactosaemia Register 2008 onwards

  • The GSG started a new register in 2008.
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  • 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.
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  • Minimum information is collected and stored about each patient: data about patient. Contact details on a questionnaire, and a consent form which must be signed by the parent/carer or adult with galactosaemia.
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  • 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.
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  • Any potential researcher will need to approach the MAP of the GSG, submitting a full protocol of their ethically approved study.
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  • 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 and to take part.
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  • This register started recruiting in January 2008, and since 2009 all individuals with galactosaemia have been able to self-register, whether adults or children.

 

2) Current Status Of The UK Register

  • There are now 155 individuals registered, of these 36 are adults.
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  • Each year approximately 5-7 people register, and this is mainly infants and young children.

3) The 1994-2002 Register

  • This original register was set up in conjunction with the GSG (Galactosaemia Support Group), as there was no centralized data collection in galactosaemia.
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  • It was run and held at the RCPCH ( Royal College of Health and Paediatrics) in London from 1994-2002.
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  • It was funded by sponsorship and support from the GSG and other sources.
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  • It contains comprehensive data on 113 new born children.
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  • The register and funding ceased in 2002.
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  • This data has now been moved and is stored alongside the current UK Galactosaemia
    register

 

4) Self Registration To The New Register

 

  • Information about joining the new register is available directly from Pat Portnoi, or via the GSG website (see link below).

Discussion

  • 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@btinternet.com.

Conclusion

  • All information about the register is on the website of the GSG or is available from the register co-ordinator.
  • Many thanks to all those health professional who have helped register new patients with galactosaemia since 2008.
  • 14 individuals with galactosaemia have been registered at the end of February 2009.
  • 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.

Download the Self-Register form from the self-register page, by clicking here.

For further information contact:

*Pat Portnoi
Galactosaemia Register Coordinator
5 Granville Park
Aughton
Ormskirk
Lancs L39 5DS

(+44)1695422247
pat.portnoi@btinternet.com

*Galactosaemia Support Group
31 Cotysmore Road
Sutton Coldfield
Birmingham
B75 6BJ

(+44)1213785143
www.galactosaemia.org