Metabolism of Renal cells in Alkaptonuria

  • Research type

    Research Study

  • Full title

    Renal cell metabolism in renal tubular cell cultures established from the urinary sediments of patients with Alkaptonuria.

  • IRAS ID

    180714

  • Contact name

    Jeannette Usher

  • Contact email

    jeanette.usher@rlbuht.nhs.uk

  • Sponsor organisation

    Royal Liverpool & Broadgreen University Hospitals NHS Trust

  • Duration of Study in the UK

    5 years, 0 months, days

  • Research summary

    We are collecting urine samples from AKU patients, some of these will have a few kidney cells that we can grow under special conditions in a flask. Having these cells will allow us to try new treatments for AKU without involving human or animal testing. Not all the samples we take will grow successfully those that do will be used to create a renal cell bank resource for alkaptonuria that will allow the development of specific research and diagnostic tools, as well as, new therapeutic methods for patients suffering from rare diseases.
    We will extract DNA and RNA from the cell cultures and this will be used for genetic testing, we will examine genes that are active in the kidney for changes in the DNA code. Such changes can affect kidney function. We will also examine the strength of signal given out by these genes to see if it is altered in patients when compared to normal healthy controls.
    Patient confidentiality will be safeguarded during and after the study and samples will be given a code to make them anonymous, but the donor could be identified through a code to which access will be restricted to the person in charge of the bank, thus the samples will be anonymously handled by the researchers. De-codification will only be made by the principal investigator or by a person expressly appointed by the researcher. Our procedures for handling, processing, storage and destruction of your data match the Caldicott principles of patient confidentiality and data protection.

  • REC name

    East Midlands - Leicester Central Research Ethics Committee

  • REC reference

    15/EM/0363

  • Date of REC Opinion

    11 Aug 2015

  • REC opinion

    Further Information Favourable Opinion