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:

  • To improve the care for all patients with cystinosis in the UK
  • To collaborate with the National Designation Centres for Cystinosis
  • To work together with Cystinosis Foundation UK and other patient groups
  • To register every willing patient with cystinosis onto RaDaR
  • To promote research for the benefit of patients with cystinosis, and their families
  • To promote educational resources for patients with cystinosis, and their families

Working with the evolving national designation centres, and other specialist units to promote equity of access to high quality clinical care

Working with RaDaR to ensure high quality data capture to enable quality assurance and future research projects in cystinosis

Recruitment of patients to the NIHR National Bioresource for Cystinosis

Contributing to research in new preparations to treat cystinosis

We work in collaboration with various cystinosis groups around the world, including:

Cystinosis Network Europe

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:

  • Sally-Anne Hulton, Paediatric Nephrologist, Birmingham Children’s Hospital
  • Graham Lipkin, Adult Nephrologist, University Hospital Birmingham
  • Lavanya Kamesh, Adult Nephrologist, University Hospital Birmingham
  • David Game, Adult NephrologistGuy’s & St Thomas’ Hospital, London RDG Lead
  • Amrit Kaur, Paediatric Nephrologist, Manchester Children’s Hospital
  • Susmito Biswas, Ophthalmologist, Manchester Royal Eye Hospital
  • Muir Morton, Adult Nephrologist, Manchester Royal Infirmary
  • Kate Hillman, Adult Nephrologist, Manchester Royal Infirmary
  • Nabil Melham, Paediatric Nephrologist, Evelina Children’s Hospital London
  • Caroline Booth, Paediatric Nephrologist, Evelina Children’s Hospital London
  • Thomas Kenning, Patient Representative and Trustee, Cystinosis Foundation UK
  • John Sayer, Adult Nephrologist, Royal Victoria Infirmary Newcastle
  • Neil Sugden, Patient Representative

Some members of the RDG have received honoraria for speaking and/or research grants from Chiesi and/or Recordati Rare Diseases

Reviewed 12/05/2023


NICE accredited clinical practice guidelines 

Available here

25th Annual Report

Analyses about the care provided to patients at UK renal centres.

Read the report

2022 UKRR AKI Report

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

Read the report