Rare Disease Group
- To establish and maintain a registry of all individuals affected by aHUS in the UK
- To provide information to clinicians on the investigation and management of aHUS
- To provide information to affected individuals and their families on aHUS
- To facilitate collaborative research into all aspects of aHUS
In October 2017 a patient focus group was held at the National Renal Complement Therapeutics Centre in Newcastle. aHUS patient representatives from across all of the UK were present to discuss their ideas for generating a National Service for aHUS with patients at its core. To help facilitate discussion staff from the NRCTC, members of the rare disease group and Sandra Currie from Kidney Research UK were present.
The key wishes from the patient group were:
1. Patient information- One of our key remits is to provide high quality advice to patients and clinicians about C3G and aHUS. We have developed a website (www.atypicalhus.co.uk) providing both lay and professional advice
2. Publicising recent research – an NRCTC Newsletter is now produced on a quarterly basis highlighting recent research, changes to the aHUS service, and a questions to the expert feature. This is available on line (www.atypicalhus.co.uk), by e-mail or by post to all patients, family, friends and clinicians.
3. Regional patient roadshows. It was suggested that aHUS staff and RDG members could hold patient information meetings around the UK. The first NRCTC regional roadshow was held on the 10th March in Durham with patients attending from the North East and Yorkshire. The next planned event will be in Liverpool.
4. Patient handheld record – To ensure equality of access, in addition to our digital platforms, we are creating a written version of our aHUS and C3G patient information. This will be included in our aHUS Patient Handheld Record which will be sent to all our patients on initial diagnosis. In addition to providing information this will act as record of important blood monitoring tests and contact information.
National Renal Complement Therapeutics Service 2017 – 2018 annual report
Publications from the aHUS rare disease group
- Walsh PR, Johnson S. 2017 Treatment and management of children with haemolytic uraemic syndrome. Arch Dis Child.
- Legendre CM, Campistol JM, Feldkamp T, Remuzzi G, Kincaid JF, Lommele A, et al. 2017 Outcomes of patients with atypical haemolytic uraemic syndrome with native and transplanted kidneys treated with eculizumab: a pooled post hoc analysis. Transpl Int.
- Kerr H, Wong E, Makou E, Yang Y, Marchbank K, Kavanagh D, et al. 2017 Disease-linked mutations in factor H reveal pivotal role of cofactor activity in self-surface-selective regulation of complement activation. J Biol Chem;292:13345-13360.
- Hallam D, Collin J, Bojic S, Chichagova V, Buskin A, Xu Y, et al. 2017 An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age-Related Macular Degeneration and Indicates a Beneficial Role for UV Light Exposure. Stem Cells;35:2305-2320.
- Goodship TH, Cook HT, Fakhouri F, Fervenza FC, Fremeaux-Bacchi V, Kavanagh D, et al. 2017 Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference. Kidney Int;91:539-551.
- Victoria Brocklebank, Newcastle University , Secretary
- David Kavanagh, Senior Lecturer in Nephrology, RDG Lead
- Tina Dutt
- Sian Griffin
- Sally Johnson, Consultant Paediatric Nephrologist, Newcastle Hospitals NHS Foundation Trust
- Michal Malina
- Kevin Marchbank, Lecturer in Applied Immunobiology, Newcastle University
- Christine Maville
- Neal Padmanabhan
- Steve Perkins, Professor, Department of Structural and Molecular Biology, University College London
- Neil Sheerin, Professor of Nephrology, Newcastle University
- Kate Smith-Jackson
- Paddy Walsh
- Edwin Wong
- Len Woodward, aHUSUK Representative
- Emily Gover
- Rodney Gilbert
Tim Goodship – Fees received by Newcastle University from Alexion Pharmaceuticals (aHUS Advisory Board, UK CI for eculizumab studies, UK CI for aHUS Registry, lectures and seminars). Chair of the Board of Trustees, Kidney Research UK.
Claire Harris – Contract of employment as Head of Complement at GSK, Stevenage, UK.
Matthew Pickering – Fees received from Alexion Pharmaceuticals for invited lectures and funding for pre-clinical studies on experimental complement reagents.