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:

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.

Cystinosis RDG Annual Report 2019 – 2020

RDG Lead(s)	David Game, Adult Nephrologist, Guy’s & St Thomas’ Hospital, London RDG Lead
Patient representative(s)	Neil Sugden, Patient Representative Thomas Kenning, Patient Representative and Trustee, Cystinosis Foundation UK Will Newman, patient representative
Other members	Sally-Anne Hulton, Paediatric Nephrologist, Birmingham Children’s Hospital Graham Lipkin, Adult Nephrologist, University Hospital Birmingham Lavanya Kamesh, Adult Nephrologist, University Hospital Birmingham 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 John Sayer, Adult Nephrologist, Royal Victoria Infirmary Newcastle

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

Rare Disease Group

Aims of the Group

Current Activities

International Links

Patient Support Groups

Reports

Group Members

Disclosure of Conflicts of Interest