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 Manchester in March 2016.

    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.

  • 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

    Support comes from the Nephrotic Syndrome Trust (NeST) and the NephCure Foundation.

    The latest news from NeST can be found here.

    Patient Information Day

    Nephrotic Syndrome Patient Information Day was held at Royal Manchester Children’s Hospital, Oxford Road, Manchester, M13 9WL on Wednesday 16th March 2016. For further information please click here.

    A previous event was held on Monday 27th April 2015 at Birmingham Children’s Hospital. For further details of the event please click here or visit the Nephrotic Syndrome Trust.

  • Reports


    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.

    Nephrotic Syndrome RDG Report 2012

    Nephrotic Syndrome RDG Report 2013

    Nephrotic Syndrome RDG Report 2015 – 2016

  • 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.

Nephrotic Syndrome RDG Version 6 Updated January 2017
Written by the Nephrotic Syndrome Rare Disease Group