Newborn screening for SMA
Research type
Research Study
Full title
Population-based newborn screening for spinal muscular atrophy to evaluate uptake and feasibility of screening in the UK context
IRAS ID
296802
Contact name
Laurent Servais
Contact email
Sponsor organisation
University of Oxford, Research Governance, Ethics & Assurance team
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
2 years, 11 months, 30 days
Research summary
Spinal muscular atrophy (SMA) is a rare, but treatable, genetic disease that typically occurs in infancy and early childhood. SMA progressively, and irreversibly, destroys motor neurons in the brainstem and spinal cord, which control important voluntary and involuntary motions, in turn leading to deterioration or loss of muscle strength. This can begin during the first 3 months of a child’s life, and in those with the most common and severe type of SMA, 95% of all motor neurons can be lost before the age of 6 months. The majority of children with this type of SMA, if untreated, will not survive beyond 2 years of age without permanent ventilatory support. Of those who do, many will not achieve independent sitting and few, if any, will ever walk independently.
The aim and objective of this screening study is to assess the uptake, reliability, and feasibility of neonatal screening for SMA in a UK setting. It is hoped that by doing so it will help establish the early detection, diagnosis, and access to the recently available therapeutic options for SMA. Screening will be done through the routine UK newborn blood spot screening pathway, using spare capacity from a newborns’ Guthrie card (dried blood spot sample). A major objective of the design of the study design has been to ensure that it will not interfere with the current UK standard screening procedure in any way.
REC name
South Central - Oxford C Research Ethics Committee
REC reference
21/SC/0394
Date of REC Opinion
8 Dec 2021
REC opinion
Favourable Opinion