Investigating steroid hormones in dried blood spots in paediatric CAH

  • Research type

    Research Study

  • Full title

    Investigating steroid hormones in dried blood spot samples in children and young people with congenital adrenal hyperplasia

  • IRAS ID

    337362

  • Contact name

    Mehul Dattani

  • Contact email

    m.dattani@ucl.ac.uk

  • Sponsor organisation

    The UCL Institute of Child Health

  • Duration of Study in the UK

    4 years, 0 months, 1 days

  • Research summary

    Congenital adrenal hyperplasia (CAH) is a group of conditions that cause ill health and sometimes death. In CAH the body is missing a chemical substance (enzyme), which stimulates the adrenal glands to release hormones, including cortisol. Without cortisol, the body is less able to cope with illness, which can be life-threatening. Children with CAH need to take lifelong hormone replacement multiple times each day. They need regular blood tests to monitor hormone concentrations in the body and need regular dose adjustments.
    At Great Ormond Street Hospital (GOSH) we look after ~200 children with CAH and admit them yearly to monitor their hormone concentrations over 24 hours. A cannula (a thin, plastic tube) is inserted into a vein, so that blood samples can be taken every 2 hours. This can be uncomfortable/painful. Hospital admission can also impact on a patient’s/carer’s quality of life. It is also costly to the NHS, involving an overnight stay for the patient and intensive nursing involvement.
    We aim to improve patient and parent/carer experience by testing a minimally invasive method of blood sampling, which involves ‘dried blood spot’ (DBS) samples that can be taken at home.
    We will take DBS samples from 30 children with CAH. We will use blood taken from a finger prick and their cannula at the time of their planned hormone test - only two drops of blood will be needed per DBS sample. We will develop a new test to analyse DBS samples and compare these hormone results to current standard hospital laboratory tests which require cannula blood samples.
    This work will lead to a new at-home test being developed, to see how well hormone replacement treatment works. This will be more convenient for patients/families and should lead to better CAH disease control. It will save the NHS money and may benefit other patient groups.

  • REC name

    West Midlands - South Birmingham Research Ethics Committee

  • REC reference

    24/WM/0024

  • Date of REC Opinion

    23 Jan 2024

  • REC opinion

    Favourable Opinion