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Newborn screening research study


Researchers at Sheffield Children’s NHS Foundation Trust are currently recruiting children and adult patients with the following Newborn Screening (NBS) disorders:

  • Phenylketonuria (PKU)
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
  • Maple Syrup Urine Disease (MSUD)
  • Isovaleric Acidaemia (IVA)
  • Glutaric Aciduria Type 1 (GA1)
  • Homocystinuria (pyridoxine unresponsive; HCU)

The study would like to recruit patients from the following hospitals:

  • Birmingham Children’s Hospital
  • Central Manchester University Hospitals
  • Sheffield Children’s Hospital
  • Guy’s and St Thomas’
  • Great Ormond Street Hospital
  • Nottingham Queen Medical Centre
  • Leicester Royal Infirmary
  • Sheffield Northern General Hospital
  • University College London Hospitals
  • Bristol Royal Hospital for Children

At the patient’s hospital, participants will be asked to provide a blood sample. DNA from this sample will be used for genetic sequencing of specific genes associated with these inherited disorders.

Participants will need to consent to sharing of medical record information such as symptoms, treatments and test results including genetics. All information collected will be stored securely in a confidential database.

Hospital visits with the research nurse should last approximately thirty minutes and refreshments will be provided. It is recommended that children are accompanied by a parent, carer or relative during the hospital visit.

Participants may withdraw from the study at any point.

Why are we doing this?

NBS is used worldwide to identify babies affected with rare, often fatal, but treatable disorders. Analysis of dried blood spot (DBS) samples taken shortly after birth provides cost-effective testing in a short time frame. Infants found to have a specific condition will receive rapid medical attention, but predicting disease severity and appropriate management in a child without symptoms can be challenging.

The research team will use Next Generation DNA Sequencing (NGS) to analyse genetic changes associated with NBS disorders. Clinical details including patient symptoms, blood chemicals and genetic mutations will be entered into a database.

Understanding better the relationship between the genetics and the clinical symptoms in these diseases, will help provide improved and personalised treatment to affected babies, children and adults.

This project will establish whether NGS can be used as an initial or follow-up test for NBS to improve the clinical utility of existing UK NBS programmes.

If you are interested in taking part or if you have any queries about the study, please contact the Project Manager

This research study is led by Dr Ann Dalton and Professor Anne Goodeve at Sheffield Children’s NHS Foundation Trust. This research is supported by an award from the Health Innovation Challenge Fund (HICF-R9-518), a parallel funding partnership between the Department of Health and the Wellcome Trust.

This research has been approved by the West Midlands – South Birmingham Research Ethics Committee.

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