Database Development for Newborn Screening Disorders



Full Study Name

A study to develop a genotype-phenotype correlative database for six Newborn Screening Disorders by performing Next Generation DNA Sequencing on a small panel of genes and collecting medical record information from screen positive and clinically affected patients


Sheffield Children’s NHS Foundation Trust

Lead Site

Sheffield Children’s NHS Foundation Trust

Chief Investigator

Ann Dalton

Local Principal Investigator

Andrew Morris

Study Status


Main Aims

To develop a correlative database for six inherited Newborn Screening disorders in order to understand how genetic variation is linked to patient symptoms and disease severity

Inclusion Criteria

Patients will be recruited that are either screen positive i.e. individuals identified as positive by NBS for either PKU, MCADD, MSUD, IVA, GA1 or HCU (pyridoxine unresponsive) or clinically affected i.e. children or adults that display symptoms and have been diagnosed with one of these disorders. Patients need to consent to all mandatory consent questions but not to optional consent questions. Adult patients must sign a consent form and if possible, children must sign an assent form. The parent or carer of each child must also sign a separate consent form.

Exclusion Criteria

Deceased patients will be excluded as well as patients that do not consent to all mandatory consent questions or if they cannot give a venous blood sample. Patients would also be excluded if they choose to be withdrawn from the study after initial consent.

Open Sites

Sheffield, Manchester, Birmingham, Great Ormond Street, Guys and St Thomas’, Nottingham, Leicester, UCLH

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