Research Study for Existing Newborn Screening Conditions

Researchers at Sheffield Children’s NHS Foundation Trust are leading an exciting research project to investigate the Applications of Next Generation DNA Sequencing in Newborn Screening. Climb are supporting this study to ensure that patient and public opinion is being considered throughout the course of the research project.

If you or your child has one of the following conditions, the Research Team would love to hear from you:

  • 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 Metabolic 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?
Newborn Screening is used worldwide to identify babies affected with rare, often fatal, but treatable disorders. Analysis of dried blood spot 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 to analyse genetic changes associated with Newborn Screening 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 Next Generation Sequencing can be used as an initial or follow-up test for Newborn Screening to improve the clinical utility of existing UK Newborn Screening programmes.

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

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