Cystinosis

Rare Disease Group

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:

  • Patient Information
  • Clinician Information
  • 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

A patient day was held in January 2019.

RaDaR data is currently being used for NICE Clinical Commissioning Proposition (mercaptamine eye drops) ID 019 and for a National Designation Centre proposal with NHSE 2018/19

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

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

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

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 
  • David Game, Adult Nephrologist, Guy’s & St Thomas’ Hospital, London RDG Lead
  • Sally Hulton, Pediatric Nephrologist, Birmingham Children’s Hospital
  • Alastair Hutchinson, Adult Nephrologist, Manchester
  • Thomas Kenning, Patient Representative
  • Graham Lipkin, Adult Nephrologist, University Hospital Birmingham
  • 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

Guidelines

NICE accredited clinical practice guidelines 

Available here

22nd Annual Report

Analyses about care provided to patients at UK renal centres.

Read the report

UKRR AKI Report

A report on the nationwide collection of AKI warning test scores. 

Read the report