Pilot study: newborn screening for spinal muscular atrophy

Spinal muscle atrophy caused by the 7th exon deletion in the SMN1 gene is a lethal autosomal recessive neuromuscular disease with incidence 1:6,000-1:10,000. The disease has a number of subtypes, but the most common and clinically severe is type I, in which the expected survival without specific treatment is less than 2 years. Therefore, it is necessary to implement Spinal muscular atrophy in the newborn screening. Unlike other diseases, in the case of spinal muscle atrophy it is possible only through DNA analysis, which can be conducted from screening cards already collected from newborns (at the moment in Latvia for six disorders is performed newborn screening). During the project, it is planned to offer for all newborn parents (~19,000) the opportunity to participate in expanded newborn screening (proposing that ~10,000 will agree to participate) and to provide molecular results not later than 3 weeks. In cases where the disease is confirmed, genetic counselling will be carried out and further patient care is based on guidelines from the Coordination Centre for Rare Diseases. The benefits of the project will be: a population study in the neonatal cohort on the incidences of spinal muscle atrophy in Latvia (in addition to determining the frequency of mutant carriers), a validated genetic testing method suitable for screening of newborns, treatment initiated in early-diagnosed patients that will significantly improve their life expectancy and quality.