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Monica Buchanan, Director of Communications
Hartford, Conn.- This week Governor Ned Lamont signed into law House Bill 7282, instituting newborn screening for spinal muscular atrophy (SMA). The bill makes Connecticut the latest to join a growing list of states now that makes screening for SMA in all newborns mandatory. SMA is the leading genetic cause of death for infants under two years of age.
“This is a crucial step towards early and effective treatment for SMA, which is now available and proved to be the most effective if started as early as in the newborn period,” said Gyula Acsadi, MD, Division Head of Neurology at Connecticut Children’s. “A typical SMA patient, treated early, will be able to achieve normal developmental milestones rather than significantly decline if left untreated.”
“Newborn screening, combined with early treatment, is the best chance we have to change the course of SMA for the next generation. We are thrilled that Connecticut has taken this important step,” said Lesley Bennett, volunteer patient advocate with the National Organization for Rare Disorders (NORD).
Spinal muscular atrophy is a genetic neuromuscular disease characterized by muscle atrophy and weakness. The most frequent form the disease (SMA Type 1) manifests early in life and is the leading genetic cause of death in infants and toddlers before two year of age unless invasive ventilator support is provider. Brain cells are not affected by this disease, and affected patients have normal intelligence.
In clinical trials for Spinraza, which was approved by the FDA in December 2016 and administered at Connecticut Children’s, infants treated before showing symptoms gained more motor milestones than those treated after showing symptoms. The most severe forms of SMA cause rapid motor neuron loss, providing a small window for optimal treatment—an opportunity often lost due to the diagnostic delays that many families experience.
As a Muscular Dystrophy Association (MDA) Care Center, Connecticut Children’s provides the most advanced treatments and clinical trials for Duchenne muscular dystrophy and spinal muscular atrophy (SMA). In 2018, the center received a five-year extension of work with Spinraza from drugmaker Biogen and received a grant from National Cure SMA to create a registry from EPIC to follow patients over a number of years.
SMA generally affects as many as 10,000 to 25,000 children and adults in the United States, and therefore it is one of the most common rare diseases. One in 6,500 children are born with this disease. SMA is a recessive genetic disease, meaning that SMA carriers do not exhibit SMA symptoms. If both parents are carriers of the SMA gene, then each of their children has a 1 in 4 chance of having the disease.
Read more about one of our SMA patients, Eva.
About Connecticut Children’s
Connecticut Children’s is the only hospital in Connecticut dedicated exclusively to the care of children and ranked one of the best children’s hospitals in the nation by U.S. News & World Report and a Magnet® designated hospital. Connecticut Children’s provides more than 30 pediatric specialties along with community-based programs to uniquely care for the physical, social, and emotional needs of children. Our team of pediatric experts and care coordinators bring access to breakthrough research, advanced treatments for both rare and common diseases, and innovative health and safety programs to every child. Connecticut Children’s is a not-for-profit organization with a mission to improve access to healthcare for all children through convenient locations, care alliances and partnerships.
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