Cystinosis – RDG

Welcome to the Cystinosis Rare Disease Group (RDG) page.

Cystinosis is a rare inherited condition that affects 1 in 100,000 to 200,000 people. It is characterised by the accumulation of cystine within the cells of the body. If left untreated the accumulated cystine can cause damage to the kidneys, eyes, muscle, pancreas and the brain. You can find further information on the following pages:

  • Aims of the Group
    • Compile a register of all UK patients with Cystinosis and document their outcomes
    • Develop best practice guidelines
    • Develop comprehensive patient information
    • Undertake and encourage research for patients with Cystinosis
    • Improve care for all patients with Cystinosis in the UK
  • Current Activities

    A Cystinosis Patient Education Day will be held on Tuesday 19th September 2017 from 9.30am – 4.30pm at the Post Graduate Centre, Queen Elizabeth Hospital, Birmingham.

    Patients and Health Professionals with an interest in Cystinosis are welcome.

    To register for a place, please contact Michelle LoweMichelle.lowe@uhb.nhs.uk

    Cystinosis Patient Day 2017

    A Cystinosis Study Day for Clinicians was held at the Queen Elizabeth Hospital in Birmingham on Tuesday 1st October 2013. For further details please click here.

    The Cystinosis RDG is currently working on various projects and further information for this website including:

    • Best practice guidelines
    • Uploading articles relevant to Cystinosis
    • Contributing towards research into new treatment preparations
    • Applying for national designation for the care of patients with Cystinosis
  • International Links

    The Cystinosis RDG plans to link their RaDaR data with the established European CEMARA Cystinosis database to create a cohort of 500-600 patients.

  • Patient Support Groups

    The Cystinosis Foundation UK supports individuals, families and researchers in the Cystinosis community.

    A Cystinosis Patient and Clinician Education Day will be held on Tuesday 19th September from 9.30 – 16.30 at the Postgraduate Centre, Queen Elizabeth Hospital, Birmingham.

    Further details will be available nearer the time but to express an interest in taking part as a speaker please contact Michelle.Lowe@uhb.nhs.uk

  • Reports
  • Group Members

    The Cystinosis RDG is made up of Consultants, Nurse Specialists and patient representatives who all have experience and a special interest in Cystinosis. The members of the group are:

    • Roz Anderson, Professor, University of Sunderland
    • Mark Bradbury, Pediatric Nephrologist, Manchester Children’s Hospital
    • John Feehally, Adult Nephrologist, Leicester General Hospital 
    • Sally Hulton, Pediatric Nephrologist, Birmingham Children’s Hospital
    • Alastair Hutchinson, Adult Nephrologist, Manchester
    • Thomas Kenning, Patient Representative
    • Graham Lipkin, Adult Nephrologist, University Hospital Birmingham RDG Lead
    • Marlies Ostermann, Adult Nephrologist, Guy’s & St Thomas’ Hospital London
    • John Sayer, Adult Nephrologist, Royal Victoria Infirmary Newcastle
    • Reena Sharma, IMD Consultant, Salford Royal Hospital
    • Michelle Smith, Clinical Nurse Specialist, University Hospital Birmingham
    • Neil Sugden, Patient Representative
    • William Van’t Hoff, Paediatric Nephrologist, Great Ormond Street Hospital London
    • Stephen Waldek, Independent Medical Consultant
  • Disclosure of Conflicts of Interest

    None reported

Cystinosis RDG Version 9 Updated July 2017
Written by the Cystinosis Rare Disease Group