Fabry Disease – RDG

  • Aims of the Group

    The main objectives of the Fabry Disease Rare Disease Group are to:

    • Provide reliable information for patients and relatives regarding the condition
    • Provide referral information for clinicians, including details about where to send samples
    • Improve referral pathways between the relevant specialties in each geographical area e.g. cardiology and nephrology
    • Design and implement studies to determine the burden of undiagnosed disease and make testing for Fabry more accessible nationwide
    • Organise patient information days to promote face-to-face contact between clinicians and patients/families
  • Current Activities

    The RDG will initially focus on the following areas of work:

    • Agree the RaDaR dataset for Fabry Disease patients
    • Write information for patients/relatives
    • Write information for healthcare professionals
    • Compile useful links to guidelines and resources
    • Compile map of UK specialist clinics with contact details of specialist clinics and existing regional MDTs (Fabry treatment centres)
  • International Links

    The Fabry Registry and the Fabry Outcomes Survey are both industry hosted international registries. They are limited by incomplete data sets and difficulties in access.

    The International Study Group for Fabry Nephropathy is a network of renal pathologists with an interest in this condition which has produced a scoring system for renal biopsies.

    The Fabry Disease RDG has no formal links to these groups. The RaDaR registry will contribute to, but not compete with, the existing international registries where appropriate.

  • Patient Support Groups

    The Society for Mucopolysaccharide Diseases (MPS Society) is the only registered UK charity providing professional support to individuals and families affected by MPS and related Lysosomal Storage Diseases throughout the UK. The Fabry Disease RDG are fortunate to have support from Christine Lavery the Chief Executive of the MPS society.

  • Reports
  • Group Members
    • Dr Paul Brennan, Consultant Clinical Geneticist, Institute of Genetic Medicine, Newcastle University
    • Prof Perry Elliott, Consultant Cardiologist, University College London
    • Dr Derralynn Hughes, Consultant in Haematology/Lysosomal Storage Disorders, University College London
    • Ms Christine Lavery, Chief Executive MPS Society
    • Dr Shabbir Moochhala, Consultant Nephrologist, Royal Free Hospital, London
    • Prof John Sayer, Professor of Renal Medicine Institute of Genetic Medicine, Newcastle University RDG Lead
    • Mr John Todd, Patient Representative
    • Prof Neil Turner, Consultant Nephrologist, Queen’s Medical Research Institute, Edinburgh
  • Disclosure of Conflicts of Interest

    Dr Shabbir Moochhala, Prof John Sayer and Prof Neil Turner have received honoraria from Genzyme for consultancy work.

    Prof John Sayer has received research funding from Genzyme.

    Paul Brennan has received lecture fees and travel expenses from Genzyme

    Derralynn Hughes has received honoraria for speaking and advisory boards and support for travel from Genzyme, Shire Actelion, Amicus and Protalix in relation to Fabry Disease and support for research from Genzyme and Shire.

Fabry Disease RDG version 2 updated February 2017
Written by the Fabry Disease Rare Disease Group