Proof of principal testing with newborn screening for SMA
Research type
Research Study
Full title
Newborn screening for Spinal Muscular Atrophy (SMA) - a proof of principal study using anonymised blood spots.
IRAS ID
249972
Contact name
Francesco Muntoni
Contact email
Sponsor organisation
Great Ormond Street Hospital for Children NHS foundation Trust
Duration of Study in the UK
0 years, 6 months, 0 days
Research summary
Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases. Newborn blood spot screening (NBS) to detect SMA has been implemented in public health laboratories in some countries already. In the UK dried blood spots are collected within a few days of birth on all babies and subsequent newborn screening is currently carried out for other diseases but not for SMA. We would like to carry out a proof of principal testing to show that an assay for SMA can be carried out on these routinely collected dried blood spots (completely anonymised). As noted within Code of Practice for Blood spots, residual newborn blood spots may also be used for research where the samples have been anonymised and the research project has ethical approval, as outlined in the Human Tissue Act and in MRC Guidance,9 without individual informed consent.
We would also run some known anonymised SMA positive dried blood spots. The sole aim of the study is to assess the performance of the commercial kit to provide evidence that NBS screening for SMA could feasibly be carried out in routine NBS screening labs.
REC name
London - West London & GTAC Research Ethics Committee
REC reference
19/LO/1801
Date of REC Opinion
25 Nov 2019
REC opinion
Favourable Opinion