Observational Study for Long Term Health Implications of Individuals Affected by Fanconi Anaemia

For this study to produce the results we want we need as many FA patients as possible to sign up to the Study

We have funded this study because although guidelines for the management of FA are available for clinicians and patients, these mainly address FA only in childhood. The extent to which these guidelines are implemented is not known, and may vary significantly between UK centres. Added to that there is sparse evidence for the management of adolescents and adults with FA, and in particular no consensus on how to treat squamous cell carcinomas arising in FA.

The Study, which is designed to meet the emerging needs of the increasing adult populations with FA and make the best possible management available for children and adults with FA, is fully funded by Fanconi Hope and is being run by a highly experienced team of FA consultants and researchers in Manchester and Cambridge:

Principals

  • Dr Stefan Meyer, Senior Lecturer / Consultant Paediatric Oncologist at the University of Manchester and Royal Manchester Children’s and Christie Hospital.
  • Dr Kate Chandler, Consultant Clinical Geneticist, Manchester Centre for Genomic Medicine at Saint Mary’s Hospital.
  • Dr Marc Tischkowitz, Reader and Honorary Consultant Physician in Medical Genetics, Department of Medical Genetics, University of Cambridge and Addenbrooke’s Hospital.

Objectives

The objectives of the study are to:

  • Provide a first point of contact for patients and parents, clinicians and researchers across the UK
  • Over time, establish a database of clinical and genetic data of FA patients in the UK – “the UK FA Registry”
  • Evaluate current care pathways and provisions for the management of FA in children.
  • Evaluate current care pathways and provisions for the management of FA in adults.
  • Support the provision of support and clinical care coordination for patients with FA.
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