fluorescent image of a neuromuscular junction taken through a microscope

Spinal muscular atrophy gene therapy

Spinal muscular atrophy gene therapy

There has been exciting progress towards developing gene therapies for SMA.

Spinal muscular atrophy, or SMA, is a type of MND where the disease most commonly starts in patients when they are babies or young children. However, in contrast to adult-onset MND (ALS), SMA is caused by a mutation in just one gene that is passed down through families.

Gene therapy

Because the genetic cause of SMA has been known for many years, progress towards SMA treatment is relatively advanced.

Our researchers, with others worldwide, are studying ‘gene therapy’ approaches for SMA: this means using a variety of methods to restore the function of, or put back a healthy copy of, the mutated gene into patients. The technicalities of delivering genes into neurons, and then getting them to function normally, is a huge challenge. Yet there continues to be significant progress every year, and there are now some encouraging clinical trials ongoing in which gene therapy is being tested for safety.