Nephrotic Syndrome – RDG
- Aims of the Group
- To compile a comprehensive UK registry of childhood and adult Nephrotic Syndrome, which includes detailed clinical information, laboratory results and genetic testing information where available. The information will be available to the patients/parents, their clinicians, and, in an anonymised form, to the Nephrotic Syndrome Rare Disease Group for research purposes.
- To investigate the underlying cause of Nephrotic Syndrome by comprehensive genetic testing of all patients (with full informed consent), and the study of patient plasma for biomarkers of disease
To inform patients about the latest research and educational advances regarding the disease
To put patients in touch with recognised support groups and charities
- To develop treatment and investigation guidelines for clinicians and patients
- To enable clinical trials to be designed and carried out to further management of the disease
- Current Activities
Current grant funding is from:
- The Nephrotic Syndrome Trust (NeST)
- NephCure $225,000 (2013-16)
- Kids Kidney Research £70,077 (2013-16)
- The British Council £45,000 (2013-16)
- NIHR Translational Research Collaboration £386,000 (2014-16)
- NIHR Clinical Training Fellowship (2014-17)
The Nephrotic Syndrome Trust organises regular Open Days for patients and families, the most recent being held in Bristol in March 2017.
The Nephrotic Syndrome Rare Disease Group together with the Kings College London Genome Core have recently acquired NIHR funding to include the Nephrotic Syndrome RaDaR data on the BioResource for Rare Diseases run by Prof Willem Ouwehand in Cambridge. This is a consortium encompassing a number of Biomedical Research Centers including Kings College London, Imperial College, University College London and Cambridge and will provide funding for up to 1000 genomes. This would include adult and childhood disease.
This is part of the BRIDGE biobanking study and has existing links with the Eurenomics Consortium. Ethics is in place but this is a pure research exercise to establish cause of disease rather than a diagnostic facility, with samples anonymised and unlinked. The agreement is that subsequent confirmation of deleterious changes in known genes would be possible subsequently in a QC clinical genetics lab only.
NURTuRE (the National Unified Renal Translational Research Enterprise) is a unique kidney biobank for chronic kidney disease (CKD) and idiopathic nephrotic syndrome (INS), covering England, Scotland and Wales, which has the potential to unlock answers to some of the biggest questions about CKD and INS.
Biological samples (plasma, serum, urine, DNA and tissue) from 3,000 patients with CKD and over 800 patients with INS are being collected and stored under strict Standard Operating Procedures for both academic and industry research worldwide. This will lead to a greater ability to identify patients who will benefit from better, earlier diagnosis and person-specific new treatments, leading to better health outcomes.
We need patient volunteers for NURTuRE – no extra hospital visits… just your consent to be involved in this exciting, pioneering study.
If you are a patient with NS at one of the participating renal units, you may be offered the opportunity to take part in the NURTuRE biobank study. If you haven’t yet been approached, and you are interested in participating, please ask the doctor or nurse at your renal unit.
NURTuRE is a research collaboration involving a charity, academia and industry, managed by Kidney Research UK and jointly led by the University of Bristol (NURTuRE-INS (NephroS) study) and the University of Nottingham (NURTuRE-CKD study).
Full details at www.nurturebiobank.org/patients
- International Links
Active collaborations are in place to build Registries in Delhi, India; Cairo, Egypt and Michigan, USA.
A tri-lateral partnership between the UK, USA and India has been funded by the British Council.
The UK Registry is also a part of the European ‘Eurenomics’ Consortium, designed to build European cohorts of patients and investigate the disease using the latest scientific technologies.
- Patient Support Groups
Patient Information Days
The latest Nephrotic Syndrome Patient Information Day was held in Bristol on the 29th March 2017.
Previous events were held in Manchester (2016) and Birmingham (2015) For further details of these events please visit the Nephrotic Syndrome Trust.
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. 2017. Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA. J Clin Invest. Mar 1;127(3):942-953.
Genomic and clinical profiling of a national Nephrotic Syndrome cohort advocates a precision medicine approach to disease management. 2017. Bierzynska, A, McCarthy, H, Soderquest, K, Sen, E, Colby, E, Ding, W, Nabhan, M, Kerecuk, L, Welsh, G & Saleem, M. Kidney International, vol 91., pp. 937-947
FAT1 mutations cause a glomerulotubular nephropathy. 2016. Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, Morris LG, ffrench-Constant C, Allen N, McNeill H, Büscher R, Kyrieleis H, Wallot M, Gaspert A, Kistler T, Milford DV, Saleem MA, Keng WT, Alexander SI, Valentini RP, Licht C, Teh JC, Bogdanovic R, Koziell A, Bierzynska A, Soliman NA, Otto EA, Lifton RP, Holzman LB, Sibinga NE, Walz G, Tufro A, Hildebrandt F. Nat Commun. Feb 24;7:10822
MAGI2 Mutations Cause Congenital Nephrotic Syndrome. 2016 Agnieszka Bierzynska, Katrina Soderquest, Philip Dean, Elizabeth Colby, Ruth Rollason, Caroline Jones, Carol D. Inward, Hugh J. McCarthy, Michael A. Simpson, Graham M. Lord, Maggie Williams, Gavin I. Welsh, Ania B. Koziell, Moin A. Saleem on behalf of NephroS, the UK study of Nephrotic Syndrome. Journal of the American Society of Nephrology.
Simultaneous sequencing of 24 genes associated with steroid resistant nephrotic syndrome, harnessing Next Generation Sequencing. 2013. Hugh J McCarthy, Agnieszka Bierzynska, Matt Wherlock , Milos Ognjanovic, Larissa Kerecuk, Shivaram Hegde, Sally Feather, Rodney D Gilbert, Leah Krischock, Caroline Jones, Manish Sinha, Nicholas Webb, Martin Christian, Stephen Marks, Ania Koziell, Gavin I Welsh, Moin A Saleem on behalf of RADAR and the UK SRNS study group. Clinical Journal of the American Society of Nephrology.
- Group Members
- Dr Detlef Bockenhauer, London
- Dr Martin Christian, Nottingham
- Mrs Wendy Cook Patient Representative
- Dr Rodney Gilbert, Southampton
- Dr Lorraine Harper, Birmingham
- Dr Ania Koziell, London
- Dr Rachel Lennon, Manchester
- Dr Hugh McCarthy, Bristol
- Prof Moin Saleem, Bristol RDG Lead
- Dr Manish Sinha, London
- Dr Richard Trompeter, London
- Dr Kjell Tullus, London
- Dr Nick Webb, Manchester
- Disclosure of Conflicts of Interest
Nick Webb has Advisory Board positions with Merck and Abbott in relationship to proteinuria reducing therapies.
Written by the Nephrotic Syndrome Rare Disease Group