The New UK Fanconi Anaemia Registry – Your involvement needed!

To all patients and families in the UK living with FA

Just email beth.lee@fanconihope.org to get involved!

Through the financial support of the Fanconi Hope Charitable Trust, Dr Stefan Meyer from Manchester University and the Central Manchester University Hospitals NHS Foundation Trust has now launched the UK Fanconi Anaemia Registry under the study name “Long Term Health Implications of Fanconi Anaemia”. This has full ethical approval and a dedicated FA coordinator, Beth Lee, who will collect and collate the data from Fanconi Anaemia (FA) patients and their families. Marc Tischkowitz (Dept of Medical Genetics, Cambridge) and Kate Chandler (Dept of Genomic Medicine, Manchester) are providing input on Genetic aspects.

The need for a Registry has long been recognised by Fanconi Hope, since, encouragingly, increasing numbers of FA patients are surviving longer into adulthood. However the following FA management issues need to be addressed.

  • Older FA patients are not managed uniformly as evidence based guidelines are lacking;
  • Provisions for adults with genetic conditions like FA and resulting complications are very variable;
  • Current care guidelines mainly address management of FA in childhood. To what extent these guidelines are implemented is not known, and may vary significantly between centres;
  • For older children, teenagers and adults no formal FA management guidelines or evidence for guidelines exists for risk assessment and surveillance of adult onset cancers, e.g. squamous cell carcinomal or breast cancer;
  • There is a need to obtain observational data to better determine the level of risk and thus provide management guidelines for effective cancer surveillance;
  • There is no consensus on how to treat adult type malignancies arising in patients with FA.

Fanconi Hope has therefore fully funded the creation and maintenance of the first UK FA Registry under the study name “Long Term Health Implications of Fanconi Anaemia”. This has only been made possible through donations and funds raised by FA families, their friends and relatives across the UK.

This is a very long term study designed to track patients’ health over many years. For this to be effective however we need you as patients and parents to be involved, contributing to the Registry on a regular basis, by interacting with Beth Lee, our FA Research Coordinator who is Fanconi Hope’s direct link to the Study.

Beth is a highly experienced FA Nurse at the Royal Manchester Children’s Hospital, and is employed through the study on a part-time basis to carry out the research Coordinator role, whilst still practicing as an FA nurse.  To get in touch with Beth, please email her at beth.lee@fanconihope.org and she will arrange a convenient time to talk to you, or you may continue corresponding purely by email if you wish.

 

 

Your support for this project is vital in generating the information that is needed to ensure best practice care for every FA patient across the UK, so please do sign up. In turn, you will gain from Beth’s extensive knowledge and access to the specialist FA consultant/researcher community, to help answer your questions as you go through the FA journey.

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This entry was posted on Friday, May 18th, 2018 at 10:57 pm

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