It's a rare and fatal genetic condition whose name sounds almost made up. Floppy baby syndrome, or spinal muscular atrophy (SMA), is thought to occur in approximately one in 6,000 births and tragically, many sufferers do not live beyond their first birthday. But thanks to a $3 million dollar award courtesy of this year's Breakthrough Prize, scientists and researchers are closer than ever to finding a cure.
SMA is an incurable childhood disease that affects the nerves that control muscle function. While mental faculties are unimpaired, it can cause physical deformity, fatal breathing problems and difficulty eating and drinking. There are four distinct forms, with Type 1 being the most common - and the most severe. Most die before reaching one year old, and those with type 2 often die in their teens.
C. Frank Bennett and Adrian Krainer were among the winners of this year's prize for developing a drug called Nusinersen, which treats SMA by targeting a closely-related gene to the one that is affected by the condition. It allows this secondary gene to produce survival motor neuron protein, which allows the neurons that carry signals from the brain to the muscles to persist, therefore compensating for the problem mutation.
Nusinersen has been available for the last 18 months and has already demonstrated to have a dramatic effect in children. During a recent trial in which babies with SMA were injected with the drug, they not only stabilized, but they also began to gain strength. The trial was so successful that the babies who were given the placebo treatment were immediately switched to the drug.
“It is quite clearly something that works," said professor Kevin Talbot, head of clinical neurology at the University of Oxford. Talbot added that it also represents a breakthrough in how neurological diseases are treated.
Dr. Richard Finkel, pediatric neurologist at the Nemours Children’s Hospital in Orlando, Florida and leader of the Nusinersen trial, agrees.
“It’s a sentinel moment,” he said. “Having spent 30 years telling parents that we had nothing to offer their baby except for comfort care, basically sending them home with a death sentence, having something that can be offered to them is remarkable. It’s not a cure, but it’s a great first step.”
Dubbed "The Oscars for science", the Breakthrough Prize was launched in 2012 and is currently maintained and organized by billionaire philanthropists who offer up large cash awards in celebration of scientific advancement. With annual, multi-million dollar awards available in three distinct categories (Life Sciences, Fundamental Physics and Mathematics), recipients are able to continue their life-changing work across a variety of fields.